Patterned dystrophy of retinal pigment epithelium
Patterned Dystrophy of Retinal Pigment Epithelium                                                                            [...]
Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)
Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Sneddon disease
Sneddon Disease                                                                                                                                      [...]
Noonan syndrome (male turner syndrome) 8
Noonan Syndrome (Male Turner Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 [...]
Okihiro syndrome
Okihiro Syndrome                                                                                                                                    [...]
Andersen-warburg syndrome
Andersen-Warburg Syndrome (Whitnall-Norman Syndrome; Oligophrenia Microphthalmos  Syndrome; Norrie Disease; Atrophia Oculi Congenital Fetal Iritis Syndrome; Congenital  Progressive Oculo-Acoustico-Cerebral Dysplasia)                               [...]
Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid) 8
Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 [...]
Sweet syndrome (acute febrile neutrophilic dermatosis) 1
Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 [...]
Congenital cataract with oxycephaly (tower skull syndrome) 278
Congenital Cataract with Oxycephaly (Tower Skull Syndrome) & [...]
Lens-iris diaphram retropulsion syndrome
Lens-Iris Diaphram Retropulsion Syndrome                                                                                         [...]
W
W [...]
Bloom syndrome (bloom-torre-mackacek syndrome; levi-type dwarfism; telangiectasis; facial dwarfism) 159
Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Levi-Type Dwarfism; Telangiectasis; Facial Dwarfism) [...]
Cataract, nuclear (coppock cataract; cataract, discoid) 213
Cataract, Nuclear (Coppock Cataract; Cataract, Discoid) &n [...]
Alkaptonuria (ochronosis; garrod syndrome)
Alkaptonuria (Ochronosis; Garrod Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare autosomal recessive metabolic disease; enzyme homogentisic acid oxidase missing; both sexes a [...]
Rubinstein-taybi syndrome 1
Rubinstein-Taybi Syndrome                                                                                                                  1 General: Inheritance polygenic or multifactorial; rare. Ocular: Antimongoloid slant of lid fissure [...]
Patterned dystrophy of retinal pigment epithelium
Patterned Dystrophy of Retinal Pigment Epithelium                                                                            General: Autosomal dominant; probably there is a migration of pigment granules in the pigment epithelium, resulting [...]
Epicanthus
Epicanthus                                                                                                                                                 [...]
Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)
Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; nonconsanguineous parents; lethal. Ocular: Hypertelorism; epicanthal folds. Clinical: Multiple pter [...]
Chronic progressive external ophthalmoplegia (cpeo; ophthalmoplegia plus) 250
Chronic Progressive External Ophthalmoplegia (CPEO; Ophthalmoplegia Plus) &n [...]
Folling syndrome (phenylketonuria; phenylpyruvic oligophrenia; ikiotia phenylketonuria syndrome) 4
Folling Syndrome (Phenylketonuria; Phenylpyruvic Oligophrenia; Ikiotia Phenylketonuria Syndrome)Â Â Â Â Â Â 4 General: Rare; autosomal recessive; phenylalanine cannot be converted to tyrosine; poor prognosis without early diet therapy; both sex [...]
One-and-a-half syndrome
One-and-a-Half Syndrome                                                                                                                       General: Lesions in medial longitudinal fasciculus and paramedian pontine reticular formation; lat [...]
Herpes simplex
Herpes Simplex                                                                                                                                          General: Large, complex deoxyribonucleic acid (DNA) virus. Ocular: Conjunctivitis; ker [...]
Schonenberg syndrome (dwarf-cardiopathy syndrome) 1
Schonenberg Syndrome (Dwarf-Cardiopathy Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Consanguinity and familial occurrence; etiology obscure. Ocular: Blepharophimosis; epicanthal folds; pseudoptosis. [...]
Ocular vaccinia
Ocular Vaccinia                                                                                                                                         General: Occurs from virus used for smallpox vaccination; transferred from vaccination s [...]
Sneddon disease
Sneddon Disease                                                                                                                                      General: Livedo reticularis; neurologic abnormalities; labile hypertension; apparently auto [...]
Photosensitivity and sunburn
Photosensitivity and Sunburn                                                                                                                  General: Enhanced responsiveness to natural or artificial nonionizing electromagnetic radiation; p [...]
Retinoschisis (rs)
Retinoschisis (RS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Sex-linked; may not manifest until middle life. Ocular: Intraretinal splitting [...]
Noonan syndrome (male turner syndrome) 8
Noonan Syndrome (Male Turner Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Similar to Turner syndrome, but with normal chromosomal analysis; X-linked dominant inheritance; X-linke [...]
Ota syndrome (nevus of ota; oculodermal melanocytosis; nevus fuscoceruleus-ophthalmomaxillaris syndrome)
Ota Syndrome (Nevus of Ota; Oculodermal Melanocytosis; Nevus Fuscoceruleus-Ophthalmomaxillaris Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Migraine (vascular headache)
Migraine (Vascular Headache)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Recurrent attacks of pain in the head; usually unilateral; often familial. Ocular: Abnor [...]
Dejerine-roussy syndrome (retrolenticular syndrome; dejerine-roussy syndrome; posterior thalamic syndrome; thalamic hyperesthetic anesthesia syndrome; thalamic syndrome) 352
Dejerine-Roussy Syndrome (Retrolenticular Syndrome; Dejerine-Roussy Syndrome; Posterior Thalamic Syndrome; Thalamic Hyperesthetic Anesthesia Syndrome; Thalamic Syndrome) [...]
Moyamoya disease (multiple progressive intracranial arterial occlusion)
Moyamoya Disease (Multiple Progressive Intracranial Arterial Occlusion)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Almost exclusively seen in Japanese infants and children; cerebrovascular disorder that results in occlusion of the lar [...]
Okihiro syndrome
Okihiro Syndrome                                                                                                                                    General: Autosomal recessive syndrome of Duane syndrome (retraction syndrome). Ocular: Nar [...]
Mucous membrane pemphigoid
Mucous Membrane Pemphigoid                                                                                                              General: Immune mediated disease characterized by autoantibodies to the basement membrane zone at the su [...]
Plummer-vinson syndrome (sideropenic dysphagia syndrome; paterson-brown-kelly syndrome; waldenstrom-kjellberg syndrome)
Plummer-Vinson Syndrome (Sideropenic Dysphagia Syndrome; Paterson-Brown-Kelly Syndrome; Waldenstrom-Kjellberg Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Deficiency of vitamin B co [...]
Aminopterin-induced syndrome
Aminopterin-Induced Syndrome                                                                                                                   General: Teratogenic effect of aminopterin and derivatives on fetus; present at birth; usually fe [...]
Rud syndrome 1
Rud Syndrome                                                                                                                                        1 General: Etiology unknown; immature nerve cells and decreased number of cells; Betz cells i [...]
Relapsing fever (recurrent fever)
Relapsing Fever (Recurrent Fever)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute infectious disease caused by Borrelia transmitted by lice; characterized by recurrent bou [...]
Bare lymphocyte syndrome
Bare Lymphocyte Syndrome General: Rare, severe combined immunodeficiency characterized by the lack of expression of human leukocyte antigen (HLA) A, B, and C antigens with severe T and B deficiency. Ocular: Horizontal nystagmus; candida [...]
Thanatophoric dwarfism 1
Thanatophoric Dwarfism                                                                                                                       1 General: Etiology unknown, but autosomal recessive inheritance is suspected; seen most frequently [...]
Rhe syndrome (retino-hepato-endocrinologic syndrome)
RHE Syndrome (Retino-Hepato-Endocrinologic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: More common in females. Ocular: Total color blindness; thinning of retinal vessels with atrophy; optic disk pallor; [...]
Retinal disinsertion syndrome
Retinal Disinsertion Syndrome                                                                                                              General: None. Ocular: Subluxation of the lens; microphthalmos; bilateral keratoconus; retinal det [...]
Submandibular, ocular, and rectal pain with flushing 1
Submandibular, Ocular, and Rectal Pain with Flushing                                                                    1 General: Autosomal dominant; brief, severe pain of submandibular, ocular, and rectal areas with flushing of surrounding [...]
Bietti disease (bietti marginal crystalline dystrophy) 146
Bietti Disease (Bietti Marginal Crystalline Dystrophy) &nbs [...]
Corneal snowflake dystrophy 303
Corneal Snowflake Dystrophy & [...]
Andersen-warburg syndrome
Andersen-Warburg Syndrome (Whitnall-Norman Syndrome; Oligophrenia Microphthalmos  Syndrome; Norrie Disease; Atrophia Oculi Congenital Fetal Iritis Syndrome; Congenital  Progressive Oculo-Acoustico-Cerebral Dysplasia)                               [...]
Craniofrontonasal dysplasia 313
Craniofrontonasal Dysplasia & [...]
Myotonic dystrophy syndrome (myotonia atrophica syndrome; dystrophia myotonica; curschmann-steinert syndrome)
Myotonic Dystrophy Syndrome (Myotonia Atrophica Syndrome; Dystrophia Myotonica; Curschmann-Steinert Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare autosom [...]
Barre-lieou syndrome (posterior cervical sympathetic syndrome)
Barre-Lieou Syndrome (Posterior Cervical Sympathetic Syndrome) General: Irritation of the vertebral nerve causing circulatory disturbance in the area of the cranial nuclei; fifth and eighth nerves mainly involved; trauma and arthritic chan [...]
Infectious mononucleosis (mononucleosis; epstein-barr virus, acute; acute epstein-barr virus)
Infectious Mononucleosis (Mononucleosis; Epstein-Barr Virus, Acute; Acute Epstein-Barr Virus) General: Asymptomatic in childhood; manifested in late adolescence of early adulthood; associated with Burkitt lymphoma and nasopharyngeal carcino [...]
Diffuse unilateral subacute neuroretinitis syndrome (dusn; unilateral wipeout syndrome; wipeout syndrome) 369
Diffuse Unilateral Subacute Neuroretinitis Syndrome (DUSN; Unilateral Wipeout Syndrome; Wipeout Syndrome) &n [...]
Lost lens syndrome
Lost Lens Syndrome                                                                                                                                 General: Occurs when the intraocular lens is completely dislocated into the vitreous cavity, [...]
Candidiasis 191
Candidiasis [...]
Susac syndrome 1
Susac Syndrome                                                                                                                                      1 General: Rare; unknown origin; characterized by the triad of encephalopathy, fluctuation he [...]
Ward syndrome (epitheliomatous phakomatosis; nevus-jaw cyst syndrome) 1
Ward Syndrome (Epitheliomatous Phakomatosis; Nevus-Jaw Cyst Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant. Ocular: Hypertelorism; dystopia canthorum; nevi of eyelids; congenital cataracts; congenital corneal opacit [...]
Uveitis masquerade syndrome(s) (vms)
Uveitis Masquerade Syndrome(s) (VMS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Uveitis masquerade syndrome is a group of disorders that mimic uveitis; cells seen may be of noninflam [...]
Cowden’s disease 307
Cowden’s Disease [...]
Actinomycosis
Actinomycosis                                                                                                                                                  General: Gram-positive Actinomyces israelii. Ocular: Hypopyon; conjunctivitis; [...]
Baraitser-winter syndrome
Baraitser-Winter Syndrome General: X-linked mental retardation, macrosomia, macrocephaly, and obesity syndrome. Ocular: Ptosis; hypertelorism; down-slanting palpebral fissures. Clinical: May be confused with Noonan syndrome; phenotypic [...]
Ocular toxoplasmosis (toxoplasmic retinochoroiditis; toxoplasmosis)
Ocular Toxoplasmosis (Toxoplasmic Retinochoroiditis; Toxoplasmosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Parasite infestation caused by Toxoplasma gondii; cell-mediated immunity is believed to be the major defense mechanism [...]
Xxxxy syndrome 1
XXXXY Syndrome                                                                                                                                 1 General: 49 chromosome anomaly; characterized by mental retardation; hypoplastic male genitalia; [...]
Chromosome 18 partial deletion (long-arm) syndrome (monosomy 18 partial [long-arm] syndrome; de grouchy syndrome) 246
Chromosome 18 Partial Deletion (Long-Arm) Syndrome (Monosomy 18 Partial [Long-Arm] Syndrome; De Grouchy Syndrome) &n [...]
Pericentric syndrome (pericentric inversion of chromosome 11)
Pericentric Syndrome (pericentric Inversion of Chromosome 11)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; leukocyte chromosomes show a pericentric inversion of chromosome 11. Ocular: Strabismus; [...]
Retinal cone degeneration
Retinal Cone Degeneration                                                                                                                    General: Autosomal dominant; diffuse cone degeneration; progressive loss of visual acuity; macular [...]
Alexander disease
Alexander Disease                                                                                                                                           General: Rare degenerative neurologic disorder characterized by diffuse demyelinatio [...]
Canalis opticus syndrome 190
Canalis Opticus Syndrome &nbs [...]
9p- syndrome
9p- Syndrome                                                                                                                                            General: Congenital mental retardation syndrome due to a 9p deletion. Ocular: Mongoloi [...]
Poliomyelitis (infantile paralysis)
Poliomyelitis (Infantile Paralysis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute viral infection characterized by varying degrees of neuronal injury, with special l [...]
Cataract, anterior polar 203
Cataract, Anterior Polar &nbs [...]
Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid) 8
Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Probably autosomal recessive. Ocular: Nystagmus; sluggish pupil reaction; restricted ocular movements; optic disk pallor; [...]
Smith-lemli-opitz syndrome (cerebrohepatorenal syndrome)
Smith-Lemli-Opitz Syndrome (Cerebrohepatorenal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; similarities with trisomy 18 syndrome; prognosis poor, with death in early infancy (see Zellweger [...]
Annette von droste-hulshoff syndrome
Annette Von Droste-Hulshoff Syndrome General: Premature birth; pseudo strabismus due to macular ectopia in retinopathy of prematurity. Ocular: Myopia; retinal detachment; negative and positive angle kappa; esotropia; temporal macular ecto [...]
Jensen disease (juxtapapillary retinopathy)
Jensen Disease (Juxtapapillary Retinopathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown. Ocular: Circumscribed inflammatory changes of the choroid; field defect. Cli [...]
Hollenhorst syndrome (chorioretinal infarction syndrome) 5
Hollenhorst Syndrome (Chorioretinal Infarction Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Caused by inadvertent pressure on the eye by the headrest from faulty positioning of the patient's head during [...]
Eldridge syndrome
Eldridge Syndrome                                                                                                                                   General: Autosomal recessive inheritance; also may involve an enzyme deficiency. Ocular: M [...]
Erb-goldflam syndrome (erb ii syndrome; hoppe-goldflam disease; pseudoparalytic syndrome; myasthenia gravis)
Erb-Goldflam Syndrome (Erb II Syndrome; Hoppe-Goldflam Disease; Pseudoparalytic Syndrome; Myasthenia Gravis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â G [...]
Sympathetic ophthalmia 1
Sympathetic Ophthalmia                                                                                                                        1 General: Trauma or injury to one eye and later onset of inflammation in the other eye. Ocular: [...]
Mucus fishing syndrome
Mucus Fishing Syndrome                                                                                                                         General: Excessive mucus production created by mechanical damage of conjunctival epithelium; epit [...]
Acanthamoeba
Acanthamoeba                                                                                                                                                General: Caused by Acanthamoeba polyphaga and Acanthamoeba sectiunel (see Herpes Sim [...]
Retinal detachment
Retinal Detachment                                                                                                                                General: Autosomal dominant; multilayered retinal tissue separates along an interface formed i [...]
Pseudo-graefe syndrome (fuchs sign)
Pseudo-Graefe Syndrome (Fuchs Sign)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Misdirection of regenerating oculomotor nerve (cranial nerve III) fibers to other muscles after inju [...]
Blepharo-naso-facial malformation syndrome 154
Blepharo-Naso-Facial Malformation Syndrome &nbs [...]
Frankl-hochwart syndrome (pineal-neurologic-ophthalmic syndrome) 4
Frankl-Hochwart Syndrome (Pineal-Neurologic-Ophthalmic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Pineal tumor, usually in early adulthood; poor prognosis. Ocular: Limitation of upward gaze; concentric field constrictio [...]
Torre-muir syndrome
Torre-Muir Syndrome                                                                                                                            General: Multiple sebaceous gland tumors of nonglabrous skin and visceral malignancy (primarily c [...]
Sweet syndrome (acute febrile neutrophilic dermatosis) 1
Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Cause unknown; common in middle-aged women; associated with acute leukemia; acute febrile neutrophilic dermatos [...]
Optic atrophy, non-leber-type, with early onset
Optic Atrophy, Non-Leber-Type, with Early Onset                                                                              General: Sex-linked; onset early in life. Ocular: Optic atrophy. Clinical: Mental retardation; hyperactive kne [...]
Schistosomiasis (bilharziasis)
Schistosomiasis (Bilharziasis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Parasitic infection by Schistosoma mansoni. Ocular: Hyphema; parasite in anterior cham [...]
Trisomy 20 syndrome
Trisomy 20 Syndrome                                                                                                                            General: Trisomy 20q (duplication) syndrome. Ocular: Oblique palpebral fissures, strabismus. [...]
Congenital cataract with oxycephaly (tower skull syndrome) 278
Congenital Cataract with Oxycephaly (Tower Skull Syndrome) & [...]
Coarctation of the aorta 256
Coarctation of the Aorta &nbs [...]
Gaisbock syndrome (emotional polycythemia; stress erythrocytosis) 4
Gaisbock Syndrome (Emotional Polycythemia; Stress Erythrocytosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Prevalent in men, heavy smokers; associated with emotional tension and stress. Ocular: Afferent pupillary defect; [...]
Drummond syndrome (idiopathic hypercalcemia; blue diaper syndrome) 387
Drummond Syndrome (Idiopathic Hypercalcemia; Blue Diaper Syndrome) [...]
Nocardiosis
Nocardiosis                                                                                                                                                General: Aerobic Actinomycetaceae that may cause a chronic suppurative process; aerob [...]
Lens-iris diaphram retropulsion syndrome
Lens-Iris Diaphram Retropulsion Syndrome                                                                                         General: Associated with small incision phacoemulsification Ocular: Infusion of fluid into the anterior cham [...]
Traumatic encephalopathy syndrome (posttraumatic general cerebral syndrome; postconcussion syndrome; punch-drunk syndrome) 1
Traumatic Encephalopathy Syndrome (Posttraumatic General Cerebral Syndrome; Postconcussion Syndrome; Punch-Drunk Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Small foc [...]
Sulfite oxidase deficiency 1
Sulfite Oxidase Deficiency                                                                                                                      1 General: Rare abnormality of sulfur metabolism in which there is an accumulation of S-sulfocyst [...]
Rheumatic fever
Rheumatic Fever                                                                                                                                     General: Streptococcal infection; mechanisms may involve immune cross-reactivity between bac [...]
Oculo-oto-oro-reno-erythropoietic disease
Oculo-Oto-Oro-Reno-Erythropoietic Disease                                                                                         General: Etiology unknown; slowly progressive course; ocular lesions similar to those of tuberous sclerosis, b [...]
Hutchinson-gilford syndrome (progeria) 5
Hutchinson-Gilford Syndrome (progeria)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Inheritance unknown; belongs to group of ectodermal dysplasias (see Werner Syndrome-Progeria of Ad [...]
Water intoxication syndrome (overhydration syndrome) 1
Water Intoxication Syndrome (Overhydration Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Administration of water in excess of kidney excretion capacity; psychogenic water drinker; may be chronic, with sl [...]
Bieber syndrome 143
Bieber Syndrome & [...]
Lubarsch-pick syndrome (primary amyloidosis; idiopathic amyloidosis; amyloidosis)
Lubarsch-Pick Syndrome (Primary Amyloidosis; Idiopathic Amyloidosis; Amyloidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare condition of unknown etiology; inherited as a dominant trait, with male preponderance; characterized by amyloid accumulation in [...]
Conjunctivitis, ligneous 290
Conjunctivitis, Ligneous &nbs [...]
Craniocleidodysostosis syndrome (cleidocranial dysostosis syndrome; marie-sainton syndrome; scheuthaurer syndrome; hulkcrantz anosteoplasia; mutational dysostosis syndrome) 311
Craniocleidodysostosis Syndrome (Cleidocranial Dysostosis Syndrome; Marie-Sainton Syndrome; Scheuthaurer Syndrome; Hulkcrantz Anosteoplasia; Mutational Dysostosis Syndrome) &n [...]
Negative acceleration syndrome (hydrostatic pressure syndrome; supersonic bailout syndrome)
Negative Acceleration Syndrome (Hydrostatic Pressure Syndrome; Supersonic Bailout Syndrome) General: At rapid deceleration, blood volume is shifted to the brain and face of the individual due to rapid elevation of intravascular blood pressu [...]
Cutis marmorata syndrome (marble skin syndrome) 338
Cutis Marmorata Syndrome (Marble Skin Syndrome) [...]
Oxalosis (primary hyperoxaluria; lepoutre syndrome)
Oxalosis (Primary Hyperoxaluria; Lepoutre Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive and acquired forms; metabolic disorders with accumulation of oxalic acid in tissues; type [...]
Alagille syndrome
Alagille Syndrome (AGS; Alagille-Watson Syndrome, AWS; Cholestasis with Peripheral Pulmonary Stenosis; Arteriohepatic Dysplasia, AHD; Hepatic Ductular Hypoplasia, Syndromatic)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: May be associa [...]
W
W Waardenburg Syndrome (Van Der Hoeve-Halberstam-Waardenburg Syndrome; Waardenburg- Klein Syndrome; Embryonic Fixation Syndrome; Interoculo-Iridodermato-Auditive Dysplasia)Â Â 1 General: Irregular dominant inheritance; development [...]
Bloom syndrome (bloom-torre-mackacek syndrome; levi-type dwarfism; telangiectasis; facial dwarfism) 159
Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Levi-Type Dwarfism; Telangiectasis; Facial Dwarfism) [...]
Raeder syndrome (paratrigeminal paralysis; horton headache; histamine cephalalgia; ciliary neuralgia; cluster headache; periodic migrainous neuralgia)
Raeder Syndrome (Paratrigeminal Paralysis; Horton Headache; Histamine Cephalalgia; Ciliary Neuralgia; Cluster Headache; Periodic Migrainous Neuralgia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Interruption of sympat [...]
Majewski syndrome
Majewski Syndrome                                                                                                                                 General: Autosomal recessive; normal chromosomes; perinatal mortality; has been suggested to b [...]
Charcot-marie- tooth disease (progressive neuritic muscular atrophy; progressive peroneal muscular atrophy) 230
Charcot-Marie- Tooth Disease (Progressive Neuritic Muscular Atrophy; Progressive Peroneal Muscular Atrophy) &nbs [...]
Möbius ii syndrome (congenital facial diplegia; congenital paralysis of the sixth and seventh nerves; congenital oculofacial paralysis; von graefes syndrome)
Möbius II Syndrome (Congenital Facial Diplegia; Congenital Paralysis of the Sixth and Seventh Nerves; Congenital Oculofacial Paralysis; Von Graefes Syndrome)                                                                 General: Congenit [...]
Cerebroretinal vasculopathy 227
Cerebroretinal Vasculopathy & [...]
Cataract, nuclear (coppock cataract; cataract, discoid) 213
Cataract, Nuclear (Coppock Cataract; Cataract, Discoid) &n [...]
Amaurosis fugax syndrome
Amaurosis Fugax Syndrome                                                                                                                          General: Caused by malignant hypertension; often occurs in association with heavy smoking; may [...]
Cranial nerves, recurrent paresis 309
Cranial Nerves, Recurrent Paresis & [...]
Anterior capsule contraction syndrome
Anterior Capsule Contraction Syndrome General: Associated with diabetes mellitus, myotonic muscular dystrophy, uveitis, shrinkage of anterior capsular opening after anterior continuous curvilinear capsularhexis Ocular: Uveitis, retinitis [...]
Cocaine intoxication syndrome 258
Cocaine Intoxication Syndrome [...]
Meckel syndrome (dysencephalia splanchnocystic syndrome; gruber syndrome) 7
Meckel Syndrome (Dysencephalia Schnocystic Syndrome; Gruber Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Autosomal recessive; ocular manifestations are similar to those of trisomy 13-l5 syndrome. Ocular: Cryptophthalmos; clinical anophth [...]
Nystagmus, voluntary 8
Nystagmus, Voluntary                                                                                                                              8 General: Autosomal dominant; usually is purely horizontal, but it may be vertical or-torsiona [...]
Epicanthus
Epicanthus                                                                                                                                                 General: Autosomal dominant. Ocular: Epicanthus; epiblepharon of upper and lower l [...]
Cerebro-oculo-facio-skeletal syndrome (cofs syndrome) 226
Cerebro-Oculo-Facio-Skeletal Syndrome (COFS Syndrome) &nbs [...]
Vestibular paralysis, bilateral
Vestibular Paralysis, Bilateral                                                                                                                General: Infective process bilaterally affecting the vestibular system in any site between the se [...]
Avulsed retinal vessel syndrome
Avulsed Retinal Vessel Syndrome General: Visual prognosis good; reports of avulsed retinal vessels not associated with retinal breaks. Ocular: Recurrent vitreous hemorrhages caused by an avulsed retinal vessel, during retinal tear formati [...]
Congenital tilted disk syndrome 287
Congenital Tilted Disk Syndrome &nb [...]
African eye worm disease (loiasis)
African Eye Worm Disease (Loiasis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by filarial nematode Loa loa; transmitted to humans by diurnally biting flies (de [...]
Fibrosarcoma
Fibrosarcoma                                                                                                                                            General: Malignant tumor of fibrous connective tissue; most commonly seen in persons 30 [...]
Thompson syndrome 1
Thompson Syndrome                                                                                                                             1 General: Autosomal dominant inheritance. Ocular: Congenital optic atrophy; nystagmus; blindness [...]
Macular dystrophy, concentric annuli (bull's-eye macular dystrophy)
Macular Dystrophy, Concentric Annuli (Bull's-Eye Macular Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; no male-to-male transmission observed. Ocular: Dyschromatopsia; foveal hyperpigmentation; perifovea [...]
Hunt syndrome (ramsay-hunt syndrome; geniculate neuralgia; herpes zoster auricularis) 5
Hunt Syndrome (Ramsay-Hunt Syndrome; Geniculate Neuralgia; Herpes Zoster Auricularis)Â Â Â Â Â Â Â 5 General: Herpes of the geniculate ganglion; course is prolonged; characterized by severe pain that frequently precedes skin and mucosal lesions a [...]
Straw peter syndrome (slovenly peter syndrome; struwwelpeter syndrome)
Straw Peter Syndrome (Slovenly Peter Syndrome; Struwwelpeter Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; combination of organic and environmental factors; affects 5% to 20% of the general school population; in presch [...]
Abdominal typhus (enteric fever; typhoid fever)
Abdominal Typhus (Enteric Fever; Typhoid Fever)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causative agent, Salmonella typhi. Ocular: Conjunctivitis; chemosis; corneal ulcer; tenonitis; par [...]
Oculodental syndrome (peters syndrome; rutherford syndrome)
Oculodental Syndrome (Peters Syndrome; Rutherford Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Similar to Rieger syndrome and Meyer-Schwickerath-Weyer syndrome; Peters syndrome inherited as autosomal recessive with [...]
Potter syndrome (renal agenesis syndrome; renofacial syndrome)
Potter Syndrome (Renal Agenesis Syndrome; Renofacial Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Unknown etiology; may be severe form of the trisomy 18 syndrome; results from prolonged oligohydramnios of any cause. O [...]
Nystagmus, congenital (congenital idiopathic nystagmus) 8
Nystagmus, Congenital (Congenital Idiopathic Nystagmus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Autosomal dominant; pattern of inheritance in congenital nystagmus, whether of the 'motor' or 'sensory' type, [...]
Thrombocytopenia 1
Thrombocytopenia                                                                                                                                  1 General: Decrease in platelets. Ocular: Retinal hemorrhages; papilledema; visual field defe [...]
Touraine-solente-gole syndrome (pachydermoperiostosis; acropachyderma; audry ii syndrome; brugsch syndrome; friedrich-erb-arnold syndrome; hehlinger syndrome)
Touraine-Solente-Gole Syndrome (Pachydermoperiostosis; Acropachyderma; Audry II Syndrome; Brugsch Syndrome; Friedrich-Erb-Arnold Syndrome; Hehlinger Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare; hereditary; predominant in males; [...]
Boutonneuse fever (marseilles fever) 167
Boutonneuse Fever (Marseilles Fever) &nbs [...]
Ophthalmoplegia, familial static
Ophthalmoplegia, Familial Static                                                                                                             General: Autosomal dominant; forms include internal, external, and total ophthalmoplegia. Ocular [...]
Goldberg disease
Goldberg Disease                                                                                                                                      General: Unclassified syndrome with features of mucopolysaccharidoses, sphingolipidoses, a [...]
Pseudohypoparathyroidism syndrome (chronic renal tubular insufficiency syndrome; seabright-bantam syndrome; albright hereditary osteodystrophy)
Pseudohypoparathyroidism Syndrome (Chronic Renal Tubular Insufficiency Syndrome; Seabright-Bantam Syndrome; Albright Hereditary Osteodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; autosomal dominant; m [...]
Stannus cerebellar syndrome
Stannus Cerebellar Syndrome                                                                                                               General: Vitamin B (riboflavin) deficiency. Ocular: Nystagmus; increased lacrimation; asthenopia; bl [...]
Vitiligo 1
Vitiligo                                                                                                                                                      1 General: Patchy depigmentary disorder of the skin; progressive; etiology unknown; [...]
Albers-schonberg disease
Albers-Schonberg Disease (Marble Bone Disease; Osteosclerosis Fragilis Generalisata; Osteopetrosis; Osteopoikilosis; Osteosclerosis Congenita Diffusa) General: Simple recessive inheritance, also dominant transmission; benign form is asympto [...]
Yersiniosis
Yersiniosis                                                                                                                                                General: Caused by gram-negative bacilli Yersinia enterocolitica or Yersinia pseudotu [...]
Vincent infection (gingivitis; trench mouth) 1
Vincent Infection (Gingivitis; Trench Mouth)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Onset usually sudden; remission, but may reoccur; young adults. Ocular: Conjunctivitis; corneal ul [...]
D
D Danbolt-Closs Syndrome (Acrodermatitis Enteropathica; Brandt Syndrome) &n [...]
Stanesco syndrome (stanesco dysostosis syndrome; osteochondrosis-osteopetrosis) 1
Stanesco Syndrome (Stanesco Dysostosis Syndrome; Osteochondrosis-Osteopetrosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant; present from birth; both sexes affected. Ocular: Exophthalmos. Clinical: Small stature; brachycephaly; dep [...]
Nance-horan syndrome
Nance-Horan Syndrome                                                                                                                           General: Rare; X-linked oculodental trait; occurs in both sexes; present from birth. Ocular: P [...]
Goltz syndrome (focal dermal hypoplasia syndrome)
Goltz Syndrome (Focal Dermal Hypoplasia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: X-linked dominant inheritance; lethal in males; skin manifestations present at birth. Ocular: Microphthalmia [...]
Color blindness, blue-mono-cone monochromatic type 269
Color Blindness, Blue-Mono-Cone Monochromatic Type &n [...]
Macular dystrophy ectodermal dysplasia and ectrodactyly (eem syndrome)
Macular Dystrophy ectodermal Dysplasia and Ectrodactyly (EEM syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Associated with abetaloproteinemia Ocular: Macular dystrophy; hypotroichosis; vitreous hemorrhage; persistant hyloid artery [...]
Van bogaert-hozay syndrome
Van Bogaert-Hozay Syndrome                                                                                                              General: Manifest after age 3 years; similar to Rubinstein-Taybi syndrome; etiology unknown; affects bot [...]
Pierre-robin syndrome (robin syndrome; micrognathia-glossoptosis syndrome)
Pierre-Robin Syndrome (Robin Syndrome; Micrognathia-Glossoptosis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; manifestations at birth; pathogenesis based on arrested fetal development; history of intrauterine disturbance in [...]
Cone dysfunction syndrome (achromatopsia) 273
Cone Dysfunction Syndrome (Achromatopsia) [...]
Distichiasis (distichiasis with congenital anomalies of the heart and peripheral vasculature) 376
Distichiasis (Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature) 376 General: Autosomal dominant. Ocular: Double rows of eyelashes; congenital ectropi [...]
Kugelberg-welander syndrome (juvenile muscular atrophy) 6
Kugelberg-Welander Syndrome (Juvenile Muscular Atrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal recessive; juvenile spinal muscular atrophy; affects both sexes; onset in late childhood or adolescence. [...]
R
R Radiation Injury (Gamma Rays; Infrared Rays; Microwaves; Radio Waves; X-Rays)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Electromagnetic radiation can cause ionization in biologic tissues. Ocular: Hyperemia of conjunctiva; corneal ulcer; pun [...]
Steele-richardson-olszewski syndrome (progressive supranuclear palsy)
Steele-Richardson-Olszewski Syndrome (Progressive Supranuclear Palsy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Nerve cell degeneration centered in the brainstem; resemblance to Lhermitte pyramidopallidal syndrome and to Jakob disease [...]
Ocular vaccinia
Ocular Vaccinia                                                                                                                                         General: Occurs from virus used for smallpox vaccination; transferred from vaccination s [...]
Okihiro syndrome
Okihiro Syndrome                                                                                                                                    General: Autosomal recessive syndrome of Duane syndrome (retraction syndrome). Ocular: Nar [...]
Nematode ophthalmia syndrome (visceral larva migrans syndrome; toxocariasis)
Nematode Ophthalmia Syndrome (Visceral Larva Migrans Syndrome; Toxocariasis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Usually found in children; invasion by larvae of Toxocara canis and Toxocara cati of viscera and eyes; pronounced eosinophilia; as ma [...]
Triangular syndrome
Triangular Syndrome                                                                                                                             General: Rare; follows trauma of excessive compression during surgery, such as Faden operation. [...]
X
X X Chromosomal Deletion                                                                                                                       General: Deletion of proximal part of long arm of the X chromosome; deletion covers pa [...]
Chromosome 11 long-arm deletion syndrome 244
Chromosome 11 Long-Arm Deletion Syndrome [...]
Subclavian steal syndrome 1
Subclavian Steal Syndrome                                                                                                                    1 General: Reversal of blood flow through the vertebral artery caused by stenosis of one subclavian [...]
Proteus infections
Proteus Infections                                                                                                                                    General: Gram-negative bacilli found in water, soil, and decaying organic substances. O [...]
Corneal dystrophy, hereditary polymorphous posterior (pcd) 298
Corneal Dystrophy, Hereditary Polymorphous Posterior (PCD) & [...]
Temporal arteritis syndrome (cranial arteritis syndrome; giant cell arteritis; hutchinson-horton-magath-brown syndrome)
Temporal Arteritis Syndrome (Cranial Arteritis Syndrome; Giant Cell Arteritis; Hutchinson-Horton-Magath-Brown Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Shigellosis (bacillary dysentery) 1
Shigellosis (Bacillary Dysentery)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Caused by Shigella; frequently passed through food and via food handlers; more commonly s [...]
Hilding syndrome (destructive iridocyclitis and multiple joint dislocations) 5
Hilding Syndrome (Destructive Iridocyclitis and Multiple Joint Dislocations)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Atrophy of body cartilages and joint dislocations without destruction of bone or joint surfaces. Ocular: Severe oc [...]
Trisomy 13 syndrome (trisomy dl syndrome, patau syndrome, reese syndrome)
Trisomy 13 Syndrome (Trisomy Dl Syndrome, Patau Syndrome, Reese Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Extra chromosome in the D group; fatal in the first few months of life; trisomy 13-l5 resembles trisomy D1. Ocular: Anophthalmia; mi [...]
Gorlin-chaudhry-moss syndrome
Gorlin-Chaudhry-Moss Syndrome                                                                                                         General: Etiology unknown. Ocular: Microphthalmia; hypertelorism; depressed supraorbital ridges; inabili [...]
Aarskog syndrome (facial-digital-genital syndrome)
Aarskog Syndrome (Facial-Digital-Genital Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: X-linked recessive; males fully affected; females exhibit partial features; normal birth weight and le [...]
Mulvihill-smith syndrome
Mulvihill-Smith Syndrome                                                                                                                       General: Progeroid disorder. Ocular: Keratoconus; conjunctivitis. Clinical: Patients have sh [...]
Matsoukas syndrome (oculo-cerebro-articulo-skeletal syndrome) 7
Matsoukas Syndrome (Oculo-Cerebro-Articulo-Skeletal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Autosomal dominant; some of the features are found in Larsen syndrome, Schwartz syndrome, Hallermann-Streiff syndrome, [...]
Pseudoprogeria syndrome
Pseudoprogeria Syndrome                                                                                                                     General: Rare; autosomal recessive; absent eyebrows and eyelashes with mental retardation. Ocular [...]
Juvenile xanthogranuloma (jxg; nevoxanthoendothelioma) 6
Juvenile Xanthogranuloma (JXG; Nevoxanthoendothelioma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Childhood disease; unknown etiology. Ocular: Uveal tract tumor presenting as spontaneous hyphema; secondary glau [...]
Visual disorientation syndrome (riddoch syndrome) 1
Visual Disorientation Syndrome (Riddoch Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Parietal lobe lesion. Ocular: Visual agnosia; stereoscopic vision and central vision unimpaired; homonymous [...]
Adie syndrome
Adie Syndrome (Holmes-Adie Syndrome; Markus Syndrome; Saenger Syndrome; Tonic Pupil; Â Iridoplegia Interna; Myotonic Pupil; Pseudotonic Pupillotonia; Weill-Reys Syndrome; Â Ross Syndrome) General: Cause unknown; more frequent in females; manif [...]
Iris retraction syndrome (posterior synechiae and iris retraction syndrome)
Iris Retraction Syndrome (Posterior Synechiae and Iris Retraction Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rhegmatogenous retinal detachment, hypotony, and retrodisplacement of the iris with seclusion of the pupil, often associate [...]
Koerber-salus-elschnig syndrome (sylvian aqueduct syndrome; nystagmus retractorius syndrome) 6
Koerber-Salus-Elschnig Syndrome (Sylvian Aqueduct Syndrome; Nystagmus Retractorius Syndrome)Â Â Â Â Â Â 6 General: Caused by tumor or inflammation in region of aqueduct of Sylvius, third and fourth ventricle, or corpora quadrigemina. Ocular: L [...]
Nielsen syndrome (exhaustive psychosis syndrome; neuromuscular exhaustion syndrome) 8
Nielsen Syndrome (Exhaustive Psychosis Syndrome; Neuromuscular Exhaustion Syndrome)Â Â Â Â Â Â Â Â 8 General: Chronic infections; postoperative phases frequently are associated with extreme stress and fatigue; similar manifestations often have been [...]
Ophthalmopathic syndrome (thyrohypophysial syndrome)
Ophthalmopathic Syndrome (Thyrohypophysial Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Exophthalmos, usually bilateral; pituitary hypersecretion or enhanced tissue sensitivity to exophthalmos-producing f [...]
Mucormycosis (phycomycosis)
Mucormycosis (Phycomycosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute, often fatal infection caused by saprophytic fungi; associated with diabetes mellitus [...]
Suprarenal sympathetic syndrome (pheochromocytoma syndrome; adrenal sympathetic syndrome; adrenal medulla tumor syndrome) 1
Suprarenal Sympathetic Syndrome (Pheochromocytoma Syndrome; Adrenal Sympathetic Syndrome; Adrenal Medulla Tumor Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Tumors p [...]
Paine syndrome
Paine Syndrome                                                                                                                                        General: Microcephaly-spastic diplegia; occurs only in males; onset from birth; sex-linked [...]
Leukemia
Leukemia                                                                                                                                                   General: Acute or chronic blood disorder. Ocular: Engorgement of conjunctival vesse [...]
F
F Fabry Disease (Angiokeratoma Corporis Diffusum Syndrome; Diffuse Angiokeratosis; Fabry-Anderson Syndrome; Glycosphingolipid Lipidosis; Glycosphingolipidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Li [...]
Karsch-neugebauer syndrome (nystagmus-split hand syndrome)
Karsch-Neugebauer Syndrome (Nystagmus-Split Hand Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Horizontal nystagmus; strabismus; cataract; fundus changes. Clinical: Split hand and spl [...]
Lewis syndrome (tuberoserpiginous syphilid of lewis)
Lewis Syndrome (Tuberoserpiginous Syphilid of Lewis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Lesions more common on nose and ears but may involve eyelids primarily; clinical manifestations are similar t [...]
Gopalan syndrome (burning feet syndrome; nutritional melalgia syndrome)
Gopalan Syndrome (Burning Feet Syndrome; Nutritional Melalgia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Female preponderance; onset age 20 to 40 years; pantothenic acid deficiency; lack of nicotinic acid, and low-protein diet are co [...]
Hydrophobia (lyssa; rabies)
Hydrophobia (Lyssa; Rabies)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute viral zoonosis of the central nervous system. Ocular: Lid retraction; widening of [...]
Alport syndrome
Alport Syndrome (Hereditary Familial Congenital Hemorrhagic Nephritis; Hereditary Nephritis; Â Familial Nephritis) General: Autosomal dominant inheritance; early death in males; normal life span in females. Ocular: Anterior lenticonus (bil [...]
Acrodermatitis chronica atrophicans
Acrodermatitis Chronica Atrophicans                                                                                                          General: Rare familial skin disorder; autosomal recessive; both sexes equally affected; occurs in i [...]
Retinal ischemic syndrome
Retinal Ischemic Syndrome                                                                                                                    Ocular: Bilateral conjunctival injection; iris rubeosis; posterior synechia; retinal vascular tortu [...]
Keratitis fugax hereditaria 6
Keratitis Fugax Hereditaria                                                                                                                     6 General: Autosomal dominant; onset from age 4 to 12 years; characterized by acute attacks of ke [...]
C
C C Syndrome (Opitz Trigonocephaly Syndrome; Trigonocephaly Syndrome) [...]
Acne rosacea (acne erythematosa; ocular rosacea)
Acne Rosacea (Acne Erythematosa; Ocular Rosacea)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; usually occurs in women 30 to 50 years of age; pathogenetic mechanism remains unclear [...]
Pfeiffer syndrome
Pfeiffer Syndrome                                                                                                                                    General: Congenital craniosynostotic syndrome with a high rate of mortality shortly after b [...]
Scaphocephaly syndrome 1
Scaphocephaly Syndrome                                                                                                                      1 General: Craniofacial dysostoses with failure in the development of the primitive mesoderm; facial [...]
Kirk syndrome 6
Kirk Syndrome                                                                                                                                         6 General: Etiology unknown; raised hereditary masses over central cornea; rare, only one f [...]
Wolf-hirschhorn syndrome 1
Wolf-Hirschhorn Syndrome                                                                                                                  1 General: Partial deletion of the short arm of chromosome 4 (4p) Ocular: exodeviation; nasolacrimal [...]
Barlow syndrome (mitral valve prolapse)
Barlow Syndrome (Mitral Valve Prolapse) General: Common; usually benign; asymptomatic; predominant in females; vague with psychoneurotic basis. Ocular: Retinal branch arterial occlusion; retinal emboli; keratoconus; ophthalmic migraine; [...]
Microcephaly, microphthalmia, cataracts, and joint contractures
Microcephaly, Microphthalmia, Cataracts, and Joint Contractures                                                   General: Autosomal dominant; ocular features like Hagberg-Santavuori syndrome. Ocular: Microphthalmia; cataracts; hypopigme [...]
Blepharoptosis, myopia, ectopia lentis 156
Blepharoptosis, Myopia, Ectopia Lentis &n [...]
Berardinelli-seip syndrome (congenital generalized lipodystrophy) 140
Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy) &nbs [...]
Pityriasis rubra pilaris (kaposi disease [2]; devergie disease; hebra disease; tarral-besnier disease; lichen ruber; lichen ruber acuminatus; pityriasis pilaris) 9
Pityriasis Rubra Pilaris (Kaposi Disease [2]; Devergie Disease; Hebra Disease; Tarral-Besnier Disease; Lichen Ruber; Lichen Ruber Acuminatus; Pityriasis Pilaris)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Abnormal keratinizat [...]
Scalded skin syndrome (toxic epidermal necrolysis; ritter disease; toxic epidermal necrolysis of lyell; staphylococcal scalded skin syndrome; lyell syndrome; epidermolysis acuta toxica; toxic epidermal necrolysis) 1
Scalded Skin Syndrome (Toxic Epidermal Necrolysis; Ritter Disease; Toxic Epidermal Necrolysis of Lyell; Staphylococcal Scalded Skin Syndrome; Lyell Syndrome; Epidermolysis Acuta Toxica; Toxic Epidermal Necrolysis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Ectrodactyly, ectodermal dysplasia, clefting syndrome (eec syndrome) 399
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC Syndrome) &nb [...]
Albinism (brown oculocutaneous albinism; nettleship falls syndrome)
Albinism (Brown Oculocutaneous Albinism; Nettleship Falls Syndrome) Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Congenital hypopigmentation. 1. Complete. Ocular: Iris thin, pale blue; prominent choroidal vessels with poorl [...]
Multiple sulfatase deficiency
Multiple Sulfatase Deficiency                                                                                                                   General: Autosomal recessive Ocular Congenital peripheral cataract; retinal degeneration; che [...]
Brittle cornea syndrome (brittle cornea, blue sclera and red hair syndrome; blue sclera syndrome) 174
Brittle Cornea Syndrome (Brittle Cornea, Blue Sclera and Red Hair Syndrome; Blue Sclera Syndrome) 174 General: Autosomal recessive; rare. Ocular: Spontaneous perforation of cornea ( [...]
Peters anomaly
Peters Anomaly                                                                                                                                         General: Autosomal recessive; may be morphologic entity with several eye syndromes, inclu [...]
Deerfly fever (francis disease; rabbit fever; tularemia; deerfly tularemia) 348
Deerfly Fever (Francis Disease; Rabbit Fever; Tularemia; Deerfly Tularemia) &n [...]
Weissenbacher-zweymuller syndrome
Weissenbacher-Zweymuller Syndrome                                                                                                 General: Probably neonatal expression of Stickler syndrome; autosomal dominant. Ocular: Myopia; congenital g [...]
Iris neovascularization with pseudoexfoliation syndrome
Iris Neovascularization with Pseudoexfoliation Syndrome                                                                   General: Anoxia secondary to iris vessel obstruction; electron microscopic studies reveal endothelial thickening with [...]
Feer syndrome (swift-feer syndrome; infantile acrodynia; acrodynia; pink disease) 4
Feer Syndrome (Swift-Feer Syndrome; Infantile Acrodynia; Acrodynia; Pink Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Etiology unknown, possibly allergic reaction to mercury or infection; onset in early childhood; both sexes equally affected. Oc [...]
Amyloidosis of gingiva and conjunctiva, with mental retardation
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation (Primary Systemic Amyloidosis)Â Â General: Autosomal recessive; primary amyloidosis differs from secondary by the mesodermal tissues being affected and nodular form of deposits [...]
Longfellow-graether syndrome
Longfellow-Graether Syndrome                                                                                                             General: Rare; etiology unknown. Ocular: Grossly dilated retinal veins; intermittent attacks of unioc [...]
Fuchs-lyell syndrome (debré-lamy-lyell syndrome; toxic epidermal necrolysis) 4
Fuchs-Lyell Syndrome (Debré-Lamy-Lyell Syndrome; Toxic Epidermal Necrolysis)                       4 General: Allergic reaction with severe manifestations; similar to Fuchs-Salzmann- Terrien syndrome (see Fuchs-Salzmann-Terrien Syndrome); m [...]
Iris dysplasia hypertelorism-psychomotor retardation syndrome
Iris Dysplasia Hypertelorism-Psychomotor Retardation Syndrome                                                    General: Autosomal dominant inheritance; some features in common with Rieger syndrome. Ocular: Hypertelorism; telecanthus; [...]
Cataract, congenital total with posterior sutural opacities 206
Cataract, Congenital Total with Posterior Sutural Opacities &nbs [...]
Cataract, floriform 209
Cataract, Floriform &nb [...]
Corneo-dermato-osseous syndrome (cdo syndrome; corneal dystrophy, epithelial with skin and skeletal changes) 304
Corneo-Dermato-Osseous Syndrome (CDO Syndrome; Corneal Dystrophy, Epithelial with Skin and Skeletal Changes) [...]
Papilloma (wart; verruca)
Papilloma (Wart; Verruca)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Cutaneous or mucosal tumor of proliferating epithelial and fibrovascular tissues; viral [...]
Bardet-biedl syndrome
Bardet-Biedl Syndrome General: Polydactyly; obesity; cognitive delay; retinal degeneration; nystagmus. Ocular: 30% to 65% of patients have clinical nystagmus that may mimic spasmus nutans but either lacks head nodding or is not suppressed [...]
Citrullinemia 252
Citrullinemia &nb [...]
Muscular dystrophy, congenital, with infantile cataract and hypogonadism
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism                                 General: Autosomal recessive; rare; reported in isolated Norwegian village. Ocular: Infantile cataract. Clinical: Ovarian agenesi [...]
Ankylostomiasis (hookworm disease)
Ankylostomiasis (Hookworm Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causative agents include Necator americanus, Ancylostoma duodenale, Ancylostoma braziliense [...]
Sturge-weber syndrome (meningocutaneous syndrome; vascular encephalotrigeminal syndrome; neuro-oculocutaneous angiomatosis; encephalofacial angiomatosis; encephalotrigeminal syndrome) 1
Sturge-Weber Syndrome (Meningocutaneous Syndrome; Vascular Encephalotrigeminal Syndrome; Neuro-Oculocutaneous Angiomatosis; Encephalofacial Angiomatosis; Encephalotrigeminal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Little syndrome (nail-patella syndrome; hereditary osteo-onycho-dysplasia; hood syndrome)
Little Syndrome (Nail-Patella Syndrome; Hereditary Osteo-Onycho-Dysplasia; HOOD Syndrome) General: Inherited as autosomal dominant; affects males and females equally. Ocular: Hypertelorism; ptosis; epicanthus; microcornea; keratoconus; s [...]
Postvaccinial ocular syndrome
Postvaccinial Ocular Syndrome                                                                                                             General: Immediate contamination and inoculation or as a delayed reaction; incubation time 3 days. [...]
Fat adherence syndrome
Fat Adherence Syndrome                                                                                                                        General: Presence of a scar or adhesion that originates in extraconal fat and extends through Teno [...]
Central nervous system deficiency syndrome (garland syndrome; spillan-scott syndrome) 218
Central Nervous System Deficiency Syndrome (Garland Syndrome; Spillan-Scott Syndrome) 218 General: Cause unknown; found in prisoners who had long been on a deficient diet; no [...]
Optic pit syndrome
Optic Pit Syndrome                                                                                                                                   General: Congenital. Ocular: Serous detachment of macula; situs inversus; peripapillary [...]
Senter syndrome (keratitis-ichthyosis-deafness syndrome; kid syndrome; ichthyosiform erythroderma, corneal involvement, and deafness
Senter Syndrome (Keratitis-Ichthyosis-Deafness Syndrome; KID Syndrome; Ichthyosiform Erythroderma, Corneal Involvement, and Deafness                                                                           General: Autosomal recessive. [...]
Cogan (1) syndrome (nonsyphilitic interstitial keratitis) 262
Cogan (1) Syndrome (Nonsyphilitic Interstitial Keratitis) &n [...]
Monbrun-benisty syndrome (ocular stump causalgia)
Monbrun-Benisty Syndrome (Ocular Stump Causalgia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Sympathetic irritation of resected sympathetic fiber to the eye; occurs after trauma of eye. Ocular: Severe r [...]
Retinoschisis, acquired (acquired retinoschisis [rs])
Retinoschisis, Acquired (Acquired Retinoschisis [RS])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Present in 4% to 22% of normal population over age 40 years; splitting in the outer plexiform layer; occasi [...]
Dracontiasis (dracunculosis; guinea worm infection; dracunculiasis) 385
Dracontiasis (Dracunculosis; Guinea Worm Infection; Dracunculiasis) &nbs [...]
Trisomy 21q- syndrome (21q deletion syndrome)
Trisomy 21q- Syndrome (21q Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 21q deletion syndrome. Ocular: Blepharochalasis; microphthalmia with persistent hypoplastic pri [...]
Plasma lecithin deficiency (cholesterol acyltransferase deficiency) 9
Plasma Lecithin Deficiency (Cholesterol Acyltransferase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Autosomal recessive. Ocular: Corneal stromal opacities comprising small gray dots in central and peripheral ar [...]
Nance-horan syndrome
Nance-Horan Syndrome                                                                                                                           General: Rare; X-linked oculodental trait; occurs in both sexes; present from birth. Ocular: P [...]
Niacin overdose (nicotinic acid overdose) 8
Niacin Overdose (Nicotinic Acid Overdose)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: B vitamin used in large doses to lower serum cholesterol and triglyceride levels or as a vasodila [...]
Amniogenic band syndrome (ring constriction; streeter dysplasia)
Amniogenic Band Syndrome (Ring Constriction; Streeter Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by fetus swallowing one or more of the free-floating strands that result from amniotic rupture; the tensi [...]
Acosta syndrome (mountain sickness; mountain climber syndrome; monge syndrome; soroche syndrome)
Acosta Syndrome (Mountain Sickness; Mountain Climber Syndrome; Monge Syndrome; Â Soroche Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Carotid artery syndrome (cavernous sinus fistula syndrome; red-eyed shunt syndrome) 201
Carotid Artery Syndrome (Cavernous Sinus Fistula Syndrome; Red-Eyed Shunt Syndrome) 201 General: Seventy-five percent of cases caused by trauma; others occur spontaneous [...]
Progressive external ophthalmoplegia and scoliosis
Progressive External Ophthalmoplegia and Scoliosis                                                                          General: Rare; isolated muscle dystrophic involvement of extraocular muscles; onset in childhood or early adulthood; [...]
Lacrimo-auriculo-dento-digital syndrome (ladd-levy-hollister syndrome)
Lacrimo-Auriculo-Dento-Digital Syndrome (Ladd-Levy-Hollister Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; all features have been reported as isolated traits. Ocular: Aplasia or hypoplasia of puncta; obstruction [...]
Webino syndrome (wall-eyed bilateral internuclear ophthalmoplegia) 1
WEBINO Syndrome (Wall-Eyed Bilateral Internuclear Ophthalmoplegia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Differential diagnosis includes demyelinating disease, arteriosclerotic cerebrovascular disease, trauma, Arnold-Chiari malform [...]
Clostridium perfringens 255
Clostridium Perfringens [...]
Marshall (d) syndrome (atypical ectodermal dysplasia) 7
Marshall (D) Syndrome (Atypical Ectodermal Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Autosomal dominant; variant of ectodermal dysplasia; onset at birth. Ocular: Myopia; congenital cataract (s [...]
Glaucoma, hereditary juvenile
Glaucoma, Hereditary Juvenile                                                                                                               General: Autosomal dominant, present at birth; there has been linkage with chromosome 1q21q23; age a [...]
Congenital cataracts facial dysmorphism neuropathy syndrome 276
Congenital Cataracts Facial Dysmorphism Neuropathy Syndrome [...]
Pituitary dysfunction and chorioretinopathy (cpd syndrome; chorioretinopathy and pituitary dysfunction) 9
Pituitary Dysfunction and Chorioretinopathy (CPD Syndrome; Chorioretinopathy and Pituitary Dysfunction)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Pelizaeus-merzbacher disease (aplasia axialis extracorticalis congenita; sudanophilic leukodystrophy)
Pelizaeus-Merzbacher Disease (Aplasia Axialis Extracorticalis Congenita; Sudanophilic Leukodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Ge [...]
Brill-symmers disease (lymphosarcoma; giant follicular lymphoma) 173
Brill-Symmers Disease (Lymphosarcoma; Giant Follicular Lymphoma) [...]
Pugh syndrome
Pugh Syndrome                                                                                                                                       General: May be misdiagnosed as UGH (uveitis, glaucoma, hyphemas) syndrome; unrelated to the [...]
Lipodystrophy (kobberling-dunnigan syndrome)
Lipodystrophy (Kobberling-Dunnigan Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Disturbance of the fat metabolism; autosomal dominant; affects females predominantly; occurs at puberty. [...]
Gaucher syndrome (glucocerebroside storage disease; glucosyl ceramide lipidosis; cerebroside lipidosis)
Gaucher Syndrome (Glucocerebroside Storage Disease; Glucosyl Ceramide Lipidosis; Cerebroside Lipidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Vitamin a deficiency 1
Vitamin A Deficiency                                                                                                                              1 General: Worldwide cause of blindness; onset in childhood; dietary vitamin A insufficiency; i [...]
Blackwater fever 150
Blackwater Fever [...]
Camak syndrome (cataract, microcephaly, arthrogryposis, kyphosis syndrome) 188
CAMAK Syndrome (Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome) 188 General: Lo [...]
Pseudo-pseudo-foster kennedy syndrome
Pseudo-Pseudo-Foster Kennedy Syndrome                                                                                         General: Mimic disease of Pseudo-Foster Kennedy Syndrome consisting of ischemic optic neuropathy and meningioma. [...]
Pulmonary insufficiency
Pulmonary Insufficiency                                                                                                                        General: Elevated CO2 levels. Ocular: Tortuosity of conjunctival and retinal vasculature; retin [...]
Chediak-higashi syndrome (anomalous leukocytic inclusions with constitutional stigmata) 234
Chediak-Higashi Syndrome (Anomalous Leukocytic Inclusions with Constitutional Stigmata) 234 General: Occurs in albinoid siblings born of consanguineous parents; tyrosinase-pos [...]
Degos syndrome (malignant atrophic papulosis; degos-delort-tricot syndrome; cutaneointestinal syndrome; kolmeier-degos syndrome) 349
Degos Syndrome (Malignant Atrophic Papulosis; Degos-Delort-Tricot Syndrome; Cutaneointestinal Syndrome; Kolmeier-Degos Syndrome) &nbs [...]
Vitreoretinochoroidopathy (vrcp; autosomal dominant vitreoretinochoroidopathy; advirc) 1
Vitreoretinochoroidopathy (VRCP; Autosomal Dominant Vitreoretinochoroidopathy; ADVIRC) 1 General: Autosomal dominant. Ocular: Chorioretinal hypopigmentation or hyperpigmentation; preretinal punctate opacities; retinal arteriolar narrowing [...]
Rieger syndrome (axenfeld-rieger syndrome; dysgenesis mesodermalis corneae et irides; dysgenesis mesostromalis; axenfeld posterior embryotoxon-juvenile glaucoma)
Rieger Syndrome (Axenfeld-Rieger Syndrome; Dysgenesis Mesodermalis Corneae et Irides; Dysgenesis Mesostromalis; Axenfeld Posterior Embryotoxon-Juvenile Glaucoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; neural crest abnormalit [...]
Tourette syndrome (gilles de la tourette syndrome; brissaud ii syndrome; caprolalia generalized tic; guinon myospasia impulsiva) 1
Tourette Syndrome (Gilles de la Tourette Syndrome; Brissaud II Syndrome; Caprolalia Generalized Tic; Guinon Myospasia Impulsiva)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 Genera [...]
Riley-smith syndrome (bannayan-riley-ruvalcaba syndrome)
Riley-Smith Syndrome (Bannayan-Riley-Ruvalcaba Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; possibly heterozygous condition (single autosomal gene); macrocephaly-pseudopapilledema-multiple hema [...]
Naffziger syndrome (scalenus anticus syndrome)
Naffziger Syndrome (Scalenus Anticus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Compression of brachial plexus and subclavian artery by scalenus anticus muscle; symptoms vary from mild, [...]
Pigmentary ocular dispersion syndrome (pigmentary glaucoma)
Pigmentary Ocular Dispersion Syndrome (Pigmentary Glaucoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Polygenic inheritance; onset at average age 52 years; distribution of pigment in chamber angle; atrophy of posterior ir [...]
L
L Lacrimal Duct Defect                                                                                                                               General: Autosomal dominant. Ocular: Imperforate nasolacrimal ducts with or wi [...]
Oral-facial-digital syndrome (ofds)
Oral-Facial-Digital Syndrome (OFDS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Group of syndromes characterized by congenital anomalies of the oral cavity, face, and digits; s [...]
Weber syndrome (weber-dubler syndrome; cerebellar peduncle syndrome; alternating oculomotor paralysis; ventral medial midbrain syndrome) 1
Weber Syndrome (Weber-Dubler Syndrome; Cerebellar Peduncle Syndrome; Alternating Oculomotor Paralysis; Ventral Medial Midbrain Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Lesion of t [...]
Myopia-ophthalmoplegia syndrome
Myopia-Ophthalmoplegia Syndrome                                                                                                      General: Sex-linked; characteristics seen in males; carried by females. Ocular: Ptosis; myopia; complete [...]
Erythema nodosum (dermatitis contusiformis)
Erythema Nodosum (Dermatitis Contusiformis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Young females; hypersensitive reaction secondary to viral, bacterial, and fungal infections; duration 2 t [...]
Fuchs-salzmann- terrien syndrome 4
Fuchs-Salzmann- Terrien Syndrome                                                                                                      4 General: Features similar to those of Fuchs-Lyell syndrome; both are based on drug allergies (antibiotics [...]
Melkersson-rosenthal syndrome (melkersson idiopathic fibroedema; miescher cheilitis granulomatosis) 7
Melkersson-Rosenthal Syndrome (Melkersson Idiopathic Fibroedema; Miescher Cheilitis Granulomatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 Ge [...]
Marchesani syndrome (weill-marchesani syndrome; inverted marfan syndrome; brachymorphy with spherophakia; dystrophia mesodermalis congenita hyperplastica)
Marchesani Syndrome (Weill-Marchesani Syndrome; Inverted Marfan Syndrome; Brachymorphy with Spherophakia; Dystrophia Mesodermalis Congenita Hyperplastica)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Pattern of inheritance uncertain; [...]
Benson disease (asteroid bodies of the vitreous; asteroid hyalitis; snowball opacities of the vitreous; scintillatio albescens) 139
Benson Disease (Asteroid Bodies of the Vitreous; Asteroid Hyalitis; Snowball Opacities of the Vitreous; Scintillatio Albescens) [...]
Pertussis (whooping cough)
Pertussis (Whooping Cough)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causative agent Haemophilus pertussis (Bordetella pertussis); not all patients who develop [...]
Hypertrophic neuropathy
Hypertrophic Neuropathy                                                                                                                        General: Autosomal recessive. Ocular: Cataract. Clinical: Elevated spinal fluid protein; sev [...]
Sparganosis
Sparganosis                                                                                                                                              General: Infestations in humans by the plerocercoid larvae of the cestodes Spirometra m [...]
Lermoyez syndrome
Lermoyez Syndrome                                                                                                                                 General: Form of Ménière disease; however, hearing acuity improves during the climax of the ve [...]
Silent sinus syndrome
Silent Sinus Syndrome                                                                                                                            General: Spontaneous enophthalmos and hypoglobus associated with a small, ipsilateral maxillary [...]
Cooley anemia (thalassemia; thalassemia major; thalassemia minor) 294
Cooley Anemia (Thalassemia; Thalassemia Major; Thalassemia Minor) [...]
Ultraviolet radiation 1
Ultraviolet Radiation                                                                                                                              1 General: Eye and skin are the only organs of the body particularly sensitive to the nonioniz [...]
Gastrocutaneous syndrome
Gastrocutaneous Syndrome                                                                                                                     General: Combination of symptoms including peptic ulcer, hiatal hernia, multiple lentigines, cafe-a [...]
Foville syndrome (foville peduncular syndrome) 4
Foville Syndrome (Foville Peduncular Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Pontine area tumor, hemorrhage, tuberculoma, multiple sclerosis, or unilateral obstruction of paramedian [...]
Methemoglobinemia
Methemoglobinemia                                                                                                                                  General: Deficiency of enzyme; inherited or acquired, with acquired most common; caused by co [...]
Pseudo-foster kennedy syndrome
Pseudo-Foster Kennedy Syndrome                                                                                                       General: Mimic disease of Foster Kennedy syndrome consisting of ischemic optic neuropathy and glioma. Oc [...]
Bassen-kornzweig syndrome (abetalipoproteinemia; acanthocytosis; familial hypolipoproteinemia) 126
Bassen-Kornzweig Syndrome (Abetalipoproteinemia; Acanthocytosis; Familial Hypolipoproteinemia) &nb [...]
Juvenile rheumatoid arthritis (jra; still disease) 6
Juvenile Rheumatoid Arthritis (JRA; Still Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Onset before age 16 years; greater occurrence of systemic manifestations, monarticular and oligoartic [...]
Oculocerebral syndrome with hypopigmentation (amish oculocerebral syndrome; cross syndrome)
Oculocerebral Syndrome with Hypopigmentation (Amish Oculocerebral Syndrome; Cross Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Aut [...]
Gruner-bertolotti syndrome
Gruner-Bertolotti Syndrome                                                                                                                   General: Various causes, including pineal tumor, supranuclear lesions, thrombosis of anterior choro [...]
Microspherophakia with hernia
Microspherophakia with Hernia                                                                                                             General: Autosomal dominant. Ocular: Microspherophakia; glaucoma. Clinical: Inguinal hernia. J [...]
Robinow-silverman-smith syndrome (achondroplastic dwarfism; mesomelic dwarfism; robinow dwarfism) 1
Robinow-Silverman-Smith Syndrome (Achondroplastic Dwarfism; Mesomelic Dwarfism; Robinow Dwarfism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Auto [...]
Fröhlich syndrome (dystrophia adiposogenitalis) 4
Fröhlich Syndrome (Dystrophia Adiposogenitalis)                                                                                4 General: Caused by chromophobe adenoma of pituitary, Rathke pouch tumors; craniopharyngiomas; suprasellar tumors [...]
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia; goldenhar-gorlin syndrome)
Goldenhar Syndrome (Oculo-Auriculo-Vertebral Dysplasia; Goldenhar-Gorlin Syndrome)Â Â Â Â Â Â Â Â Â Â Â General: Most cases have been sporadic, but cases of autosomal dominant and recessive inheritance have been reported; male preponderance (60%); pr [...]
Wilson disease (hepatolenticular degeneration)
Wilson Disease (Hepatolenticular Degeneration)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Lesion in the putamen and lenticular nucleus; familial; occurs in first decade of life; reduced liver fu [...]
Narp syndrome
NARP Syndrome                                                                                                                                      General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome. Ocul [...]
Z
Z Zellweger Syndrome (Cerebrohepatorenal Syndrome of Zellweger)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare; congenital; lethal disease; prevalent in females; demyelination of cerebral white matter, spinal cord [...]
Periocular metastatic tumors (ocular metastatic tumors)
Periocular Metastatic Tumors (Ocular Metastatic Tumors)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Neoplasms that develop from malignant cells and are carried from a primary site of malignancy. Ocular: Reti [...]
Short syndrome 1
Short Syndrome                                                                                                                                      1 General: Autosomal recessive; short stature; hyperextensibility; hernia; ocular depression; [...]
Symonds syndrome (otitic hydrocephalus syndrome; serous meningitis syndrome; benign intracranial hypertension; pseudotumor cerebri) 1
Symonds Syndrome (Otitic Hydrocephalus Syndrome; Serous Meningitis Syndrome; Benign Intracranial Hypertension; Pseudotumor Cerebri)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Children and adolesc [...]
Windshield wiper syndrome 1
Windshield Wiper Syndrome                                                                                                                 1 General: Following cataract extraction with a posterior chamber J loop intraocular lens; intraocular [...]
Cerebral palsy 224
Cerebral Palsy &n [...]
Wernicke syndrome i (superior hemorrhagic polioencephalopathic syndrome; hemorrhagic polioencephalitis superior syndrome; encephalitis hemorrhagica superioris; avitaminosis b; thiamine deficiency; beriberi; gayet-wernicke syndrome; wernicke-korsakoff syndrome) 1
Wernicke Syndrome I (Superior Hemorrhagic Polioencephalopathic Syndrome; Hemorrhagic Polioencephalitis Superior Syndrome; Encephalitis Hemorrhagica Superioris; Avitaminosis B; Thiamine Deficiency; Beriberi; Gayet-Wernicke Syndrome; Wernicke-Korsa [...]
Ewing sarcoma (ewing syndrome)
Ewing Sarcoma (Ewing Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Highly metastatic round cell tumor of bone; most commonly involves long or trunk bones; metastasi [...]
Pillay syndrome (ophthalmomandibulomelic dysplasia)
Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; both sexes affected. Ocular: Corneal opacities. Clinical: Temporomandibular fusion; ob [...]
Kniest dysplasia (metatropic dwarfism type ii)
Kniest Dysplasia (Metatropic Dwarfism Type II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant disease; Swiss cheese pattern on cartilage biopsy specimen; due to either alteration [...]
Donohue syndrome (leprechaunism) 380
Donohue Syndrome (Leprechaunism) &n [...]
Peutz-touraine syndrome (peutz-jeghers syndrome)
Peutz-Touraine Syndrome (Peutz-Jeghers Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Recognized in infants; autosomal dominant; gastrointestinal polyps; jejunal polyps are consistent feature; the [...]
Basedow syndrome (graves disease; hyperthyroidism; thyrotoxicosis; exophthalmic goiter; parry disease) 125
Basedow Syndrome (Graves Disease; Hyperthyroidism; Thyrotoxicosis; Exophthalmic Goiter; Parry Disease) & [...]
Ring d chromosome
Ring D Chromosome                                                                                                                              General: Variant of the chromosome 13 deletion syndrome; ring chromosomes. Ocular: Hyperteloris [...]
Optic atrophy-spastic paraplegia syndrome
Optic Atrophy-Spastic Paraplegia Syndrome                                                                                        General: Degenerative disorder of CNS associated with optic atrophy; sex-linked. Ocular: Optic atrophy. Cl [...]
Vesell syndrome (deafness-strabismus symphalangia syndrome)
Vesell Syndrome (Deafness-Strabismus Symphalangia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; possibly autosomal dominant inheritance. Ocular: Strabismus. Clinical: Symphalangism; hearing los [...]
Lenoble-aubineau syndrome (nystagmus-myoclonia syndrome)
Lenoble-Aubineau Syndrome (Nystagmus-Myoclonia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Familial; pathogenesis not known; prevalent in males; manifest during first years of life; X-linked dominant inheritance [...]
Nelson syndrome
Nelson Syndrome                                                                                                                                      General: Caused by elevated, incompletely suppressible, or nonsuppressible levels of circul [...]
Pituitary necrosis syndrome (postpartum hypopituitarism syndrome; sheehan syndrome; simmonds-sheehan syndrome) 9
Pituitary Necrosis Syndrome (Postpartum Hypopituitarism Syndrome; Sheehan Syndrome; Simmonds-Sheehan Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Etiolog [...]
Ascariasis
Ascariasis                                                                                                                                                         General: Roundworm infection caused by Ascaris lumbricoides. Ocular: Conjun [...]
Pterygium of conjunctiva and cornea
Pterygium of Conjunctiva and Cornea                                                                                                 General: Autosomal dominant; more frequent in people who work outdoors; occurs late in life. Ocular: Wing [...]
Brown syndrome (superior oblique tendon sheath syndrome) 175
Brown Syndrome (Superior Oblique Tendon Sheath Syndrome) & [...]
Congential varicella syndrome 288
Congential Varicella Syndrome [...]
Fragile x syndrome 4
Fragile X Syndrome                                                                                                                                  4 General: X-linked recessive; primarily affects males. Ocular: Strabismus; nystagmus; high [...]
Diabetes mellitus (willis disease) 364
Diabetes Mellitus (Willis Disease) [...]
Tar syndrome (thrombocytopenia absent radius syndrome) 1
TAR Syndrome (Thrombocytopenia Absent Radius Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Bilateral absence of the radius and hypomegakaryocytic thrombocytopenia. Ocular: May have cataracts, glaucoma, megaloco [...]
Hydranencephaly
Hydranencephaly                                                                                                                                      General: Rare; development disorder in which cerebral hemispheres are replaced by a cystic [...]
Hemifacial hyperplasia with strabismus (bencze syndrome) 5
Hemifacial Hyperplasia with Strabismus (Bencze Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Autosomal dominant; abnormal growth of facial skeleton and soft tissue and viscera; left side prominent. Ocu [...]
Posthypoxic encephalopathy syndrome (posthypoxic syndrome; parietooccipital syndrome)
Posthypoxic Encephalopathy Syndrome (Posthypoxic Syndrome; Parietooccipital Syndrome)Â Â Â Â Â General: Hypoxia secondary to carbon monoxide poisoning, high altitude, complication during anesthesia, hypoglycemia, or cardiac failure, causing wi [...]
Garcin syndrome (half-base syndrome; schmincke tumor-unilateral cranial paralysis)
Garcin Syndrome (Half-Base Syndrome; Schmincke Tumor-Unilateral Cranial Paralysis)Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causes include tumors of nasopharynx, rapidly progressing growth of a sarcoma of base of skull, meningitis, and cranial polyneuritis; c [...]
Gerstmann syndrome (dominant hemisphere syndrome; left angular gyrus syndrome)
Gerstmann Syndrome (Dominant Hemisphere Syndrome; Left Angular Gyrus Syndrome)Â Â Â Â Â Â Â Â Â Â Â General: Most frequently caused by tumors of dominant hemisphere in which the angular gyrus is involved; may follow an ischemic posterior cerebellar [...]
Olivopontocerebellar atrophy iii (opca iii; opca with retinal degeneration)
Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; neurologic lesion; dominant with variable penetration. Ocular: Retinopathy variable: peripheral, macular [...]
Schomberg disease 1
Schomberg Disease                                                                                                                                 1 General: Blood dyscrasias; associated with thrombocytopenia. Ocular: Subconjunctival hemorr [...]
Leptomeningeal adhesive thickening (chronic adhesive arachnoiditis)
Leptomeningeal Adhesive Thickening (Chronic Adhesive Arachnoiditis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Follows a chronic leptomeningeal infection, trauma, or subarachnoid hemorrhage; insidious onset. Ocular: Diplopia. [...]
Cri-du-chat syndrome (cat-cry (5p-) syndrome; crying cat syndrome; bi deletion syndrome; lejeune syndrome) 322
Cri-du-Chat Syndrome (Cat-Cry (5p-) Syndrome; Crying Cat Syndrome; BI Deletion Syndrome; Lejeune Syndrome) & [...]
Hyperparathyroidism
Hyperparathyroidism                                                                                                                               General: Increased secretion of parathyroid hormone. Glasslike crystals of conjunctiva; band k [...]
Weyers syndrome (2) (weyers iv syndrome; lridodental dysplasia; dentoirideal dysplasia; dysgenesis iridodentalis; dysgenesis mesodermalis corneae et irides with digodontia) 1
Weyers Syndrome (2) (Weyers IV Syndrome; lridodental Dysplasia; Dentoirideal Dysplasia; Dysgenesis Iridodentalis; Dysgenesis Mesodermalis Corneae et Irides with Digodontia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Present from birth; hereditary; etiolo [...]
Chromosome 18 partial deletion (short-arm) syndrome (monosomy 18 partial [short-arm] syndrome) 247
Chromosome 18 Partial Deletion (Short-Arm) Syndrome (Monosomy 18 Partial [Short-Arm] Syndrome) &nb [...]
Mosse syndrome (polycythemia-hepatic cirrhosis syndrome)
Mosse Syndrome (Polycythemia-Hepatic Cirrhosis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Unknown etiology. Ocular: Scleral icterus; marked retinal venous tortuosity and dilation; retinal artery occlusio [...]
Pregnancy
Pregnancy                                                                                                                                                General: Pregnancy results in hormonal changes that produce ocular effects; symptoms re [...]
Posterior iris chafing syndrome
Posterior Iris Chafing Syndrome                                                                                                          General: Complication following intraocular lens imtation attributed to sulcus-fixed posterior chamber [...]
Micro syndrome
Micro Syndrome                                                                                                                                       General: Autosomal recessive microcephaly and microcornea; Muslim Pakistani inheritance; pr [...]
Multiple mucosal neuromata with endocrine tumors syndrome (multiple mucosal neuromas, pheochromocytoma, and medullary thyroid carcinoma syndrome)
Multiple Mucosal Neuromata with Endocrine Tumors Syndrome (Multiple Mucosal Neuromas, Pheochromocytoma, and Medullary Thyroid Carcinoma Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Pheochromocytoma can be inherited and [...]
Pinta (nonvenereal treponematosis) 9
Pinta (Nonvenereal Treponematosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Caused by spirochete Treponema carateum; infectious; contagious; found in Mexico, Central Amer [...]
Cranio-oro-digital syndrome (otopalatodigital syndrome; opd ii syndrome; facio-palato- osseous syndrome; fpo) 315
Cranio-Oro-Digital Syndrome (Otopalatodigital Syndrome; OPD II Syndrome; Facio-Palato- Osseous Syndrome; FPO) [...]
Homocystinuria syndrome 5
Homocystinuria Syndrome                                                                                                                       5 General: Rare disorder of amino acid metabolism; autosomal recessive inheritance; approximately o [...]
Aspergillosis
Aspergillosis General: Systemic infection common in poultry farmers, feeders or breeders of pigeons, and persons who work with grains; should be considered in immunocompromised patients. Ocular: Corneal ulcer; blepharitis; keratitis; scl [...]
Bielschowsky-lutz-cogan syndrome (internuclear ophthalmoplegia) 144
Bielschowsky-Lutz-Cogan Syndrome (Internuclear Ophthalmoplegia) [...]
Fuchs (1) syndrome (heterochromic cyclitis syndrome)
Fuchs (1) Syndrome (Heterochromic Cyclitis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; mild infective cyclitis is the most likely cause; etiology remains unclear, although it is l [...]
Xyy syndrome 1
XYY Syndrome                                                                                                                                       1 General: Y chromosome polysomy syndrome. Ocular: Colobomata. Clinical: Mild mental reta [...]
V exotropia syndrome 1
V Exotropia Syndrome                                                                                                                           1 Exotropia greater looking up by 15 diopters than looking down; underaction of superior oblique o [...]
Hallermann-streiff syndrome (dyscephalic-mandibulo-oculo-facial syndrome; oculo-mandibulo-dyscephaly; ullrich-fremery-dohna syndrome; francois dyscephalic syndrome; mandibulo-oculo- facial dyscephaly syndrome; francois-hallermann-streiff syndrome; hallermann-streiff-francois syndrome; audry i syndrome; dohna syndrome; francois syndrome (1); dyscephaly- teeth abnormality-dwarfism; dyscephalia oculomandibularis-hypotrichosis; mandibulo-ocular dyscephalia hypotrichosis; fremery-dohna syndrome; oculo-mandibulo-facial dyscephaly)
Hallermann-Streiff Syndrome (Dyscephalic-Mandibulo-Oculo-Facial Syndrome; Oculo-Mandibulo-Dyscephaly; Ullrich-Fremery-Dohna Syndrome; Francois Dyscephalic Syndrome; Mandibulo-Oculo- Facial Dyscephaly Syndrome; Francois-Hallermann-Streiff Syndrome; [...]
Hoof and mouth disease 5
Hoof and Mouth Disease                                                                                                                          5 General: Viral etiology. Ocular: Conjunctival painful red blisters. Clinical: Mucous membr [...]
Greig syndrome (ocular hypertelorism syndrome; hypertelorism; primary embryonic hypertelorism; hypertelorism ocularis)
Greig Syndrome (Ocular Hypertelorism Syndrome; Hypertelorism; Primary Embryonic Hypertelorism; Hypertelorism Ocularis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Lanzieri syndrome
Lanzieri Syndrome                                                                                                                                   General: Developmental anomaly that belongs to group of craniofacial malformations; present [...]
Jacod syndrome (negri-jacod syndrome; petrosphenoidal space syndrome)
Jacod Syndrome (Negri-Jacod Syndrome; Petrosphenoidal Space Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Lesion involving cranial nerves II to VI; most frequently a malignant nasopharyngeal tumor originating in lateropharyngeal area [...]
Fibrinoid syndrome
Fibrinoid Syndrome                                                                                                                                  General: From 2 to 14 days postvitrectomy, white-gray criss-cross layers of fibrin appear on [...]
Oculopalatoskeletal syndrome
Oculopalatoskeletal Syndrome                                                                                                                 General: Autosomal recessive; developmental defect of eye and occipital bone; skeletal abnormalitie [...]
Favre-racouchot syndrome (nodular elastoidosis)
Favre-Racouchot Syndrome (Nodular Elastoidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Reaction to sun; permanent, slowly progressing condition; occurs in people chronically exposed to sun; usu [...]
Von monakow syndrome (monakow anterior choroidal artery syndrome) 1
Von Monakow Syndrome (Monakow Anterior Choroidal Artery Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Rupture or thrombosis of anterior choroidal artery; aneurysm; tumor. Ocular: Visual field defect; hemianopia. Clinical: Hemiple [...]
Hereditary microcornea, glaucoma, and absent frontal sinuses 5
Hereditary Microcornea, Glaucoma, and Absent Frontal Sinuses                                                       5 General: Autosomal dominant. Ocular: Microcornea; glaucoma; epicanthal folds; optic cupping. Clinical: Thickened palma [...]
Midas syndrome (microphthalmia, dermal aplasia and sclerocornea)
MIDAS Syndrome (Microphthalmia, Dermal Aplasia and Sclerocornea)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: X-linked phenotype; male-lethal trait Ocular: Bilateral microphthalmia; sclerocornea; blepharophimosis Clinical: derma [...]
Von hippel-lindau syndrome (retinocerebral angiomatosis; angiomatosis retinae; cerebelloretinal hemangioblastomatosis; lindau syndrome; retinal capillary hamartoma) 1
Von Hippel-Lindau Syndrome (Retinocerebral Angiomatosis; Angiomatosis Retinae; Cerebelloretinal Hemangioblastomatosis; Lindau Syndrome; Retinal Capillary Hamartoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Dominant inheritance; angiomat [...]
Orf syndrome (ecthyma infectiosum)
ORF Syndrome (Ecthyma Infectiosum)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Infectious disease; transmitted between animals; worldwide distribution; human infection from sheep. [...]
Blue rubber bleb nevus syndrome (bean syndrome) 160
Blue Rubber Bleb Nevus Syndrome (Bean Syndrome) [...]
Roberts pseudothalidomide syndrome 1
Roberts Pseudothalidomide Syndrome                                                                                                 1 General: Rare autosomal recessive disorder characterized by prenatal and postnatal growth retardation, limb [...]
Marfan syndrome (dolichostenomelia; arachnodactyly; hyperchondroplasia; dystrophia mesodermalis congenita)
Marfan Syndrome (Dolichostenomelia; Arachnodactyly; Hyperchondroplasia; Dystrophia Mesodermalis Congenita)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Hy [...]
Psoriasis (psoriasis vulgaris)
Psoriasis (Psoriasis Vulgaris)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic skin disease of unknown etiology; both sexes affected; onset at any age; diseas [...]
Hypervitaminosis a
Hypervitaminosis AÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Excessive vitamin A ingestion. Ocular: Papilledema; congenital cataract; congeni [...]
Angioedema
Angioedema (Angioneurotic Edema; Giant Edema; Giant Urticaria; Hives; Nettle Rash; Â Quincke Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Polymyalgia rheumatica
Polymyalgia Rheumatica                                                                                                                        General: Affects older patients; usually Caucasian women; relationship between polymyalgia and tem [...]
Cerebrofacial-reno-arthro-syndactylia syndrome 225
Cerebrofacial-Reno-Arthro-Syndactylia Syndrome [...]
Camfak syndrome (cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome) 189
CAMFAK Syndrome (Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome) 189 General: Autosomal recessive; there is evidence supporting that it is a neurologic dis [...]
Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging 172
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging [...]
Allergic to everything syndrome
Allergic to Everything Syndrome                                                                                                                  General: 'Environmentally ill' or allergic to unusual or common substances in the environment; [...]
Retinoschisis, autosomal dominant
Retinoschisis, Autosomal Dominant                                                                                                      General: Autosomal dominant; degenerative abnormal splitting of retinal sensory layers. Ocular: Loss o [...]
Caisson syndrome (bends syndrome; diver's palsy; compressed-air illness) 186
Caisson Syndrome (Bends Syndrome; Diver's Palsy; Compressed-Air Illness) &nb [...]
Spanlang-tappeiner syndrome (keratosis palmoplantaris and corneal dystrophy syndrome)
Spanlang-Tappeiner Syndrome (Keratosis Palmotaris and Corneal Dystrophy Syndrome)Â Â Â General: Autosomal dominant; etiology unknown; occurs in both sexes; onset age 5 to 20 years; linear palmar and diffuse tar keratosis with dystrophy of the [...]
Cataract, microphthalmia and nystagmus 212
Cataract, Microphthalmia and Nystagmus &n [...]
Anorexia nervosa (apepsia hystericci)
Anorexia Nervosa (Apepsia Hystericci)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Compulsive neurosis; refusal to eat; occurs in adolescent to young adult females; symptoma [...]
Congenital vertical retraction syndrome 289
Congenital Vertical Retraction Syndrome & [...]
Sebaceous gland carcinoma 1
Sebaceous Gland Carcinoma                                                                                                                 1 General: Ocular adnexa contains various sebaceous glands from which carcinomas may arise; predilectio [...]
Avitaminosis b2 (ariboflavinosis; pellagra)
Avitaminosis B2 (Ariboflavinosis; Pellagra) General: Niacin deficiency. Ocular: Conjunctivitis; corneal vascularization; keratitis; pupillary dilation; optic atrophy; optic neuritis; cataract; blepharitis; central scotoma; marked photopho [...]
Sipple syndrome (multiple endocrine neoplasia 2 or 2a; multiple endocrine adenomatosis 2 or 2a; familial chromaffinomatosis; multiple neuroma; pheochromocytoma-thyroid medullary carcinoma; pct; men2 or men2a; mea2 or mea2a)
Sipple Syndrome (Multiple Endocrine Neoplasia 2 or 2A; Multiple Endocrine Adenomatosis 2 or 2A; Familial Chromaffinomatosis; Multiple Neuroma; Pheochromocytoma-Thyroid Medullary Carcinoma; PCT; MEN2 or MEN2A; MEA2 or MEA2A)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Conradi syndrome (multiple epiphyseal dysplasia congenita; dysplasia epiphysealis congenita; chondrodystrophia foetalis hypoplastica; calcinosis universalis; congenital calcifying chondrodystrophy; stippled epiphyses syndrome; conradi-hünermann syndrome; chondrodysplasia punctata) 291
Conradi Syndrome (Multiple Epiphyseal Dysplasia Congenita; Dysplasia Epiphysealis Congenita; Chondrodystrophia Foetalis Hypoplastica; Calcinosis Universalis; Congenital Calcifying Chondrodystrophy; Stippled Epiphyses Syndrome; Conradi [...]
Ormond syndrome (retroperitoneal fibrosis)
Ormond Syndrome (Retroperitoneal Fibrosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Periureteral fibrosis that constricts ureter; most frequent in males; average age at onset is 46 years [...]
Foot-in-the-wound syndrome
Foot-in-the-Wound Syndrome                                                                                                                 General: Occurs when the anterior chamber intraocular lens haptic is within the wound. Ocular: Ha [...]
Terrien disease (terrien marginal degeneration; gutter dystrophy; peripheral furrow keratitis; senile marginal atrophy) 1
Terrien Disease (Terrien Marginal Degeneration; Gutter Dystrophy; Peripheral Furrow Keratitis; Senile Marginal Atrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 [...]
Claude syndrome (inferior nucleus ruber syndrome; rubro-spinal-cerebellar-peduncle syndrome) 253
Claude Syndrome (Inferior Nucleus Ruber Syndrome; Rubro-Spinal-Cerebellar-Peduncle Syndrome) &nb [...]
Dandy-walker syndrome (atresia of the foramen of magendie) 344
Dandy-Walker Syndrome (Atresia of the Foramen of Magendie) & [...]
Second eye syndrome
Second Eye Syndrome                                                                                                                            General: Associatedwith the second cataract surgery within one month of the first. Ocular: Inc [...]
Ophthalmodynia hypertonica copulationis syndrome
Ophthalmodynia Hypertonica Copulationis Syndrome                                                                        General: Provocation of a diagnosed and otherwise controlled angle-closure glaucoma by prolonged sexual intercourse in t [...]
Goldscheider syndrome (weber-cockayne syndrome; epidermolysis bullosa; dominant epidermolysis bullosa dystrophiea albopapuloidea)
Goldscheider Syndrome (Weber-Cockayne Syndrome; Epidermolysis Bullosa; Dominant Epidermolysis Bullosa Dystrophiea Albopapuloidea)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: [...]
Sorsby ii syndrome (sorsby macular dystrophy) 1
Sorsby II Syndrome (Sorsby Macular Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Both sexes affected; onset in third and fourth decades of life. Ocular: Retinal hemorrhages; retinal exud [...]
Lead poisoning
Lead Poisoning                                                                                                                                          General: Now rare and mostly of industrial origin; cumulative poisoning; excreted slowly [...]
Paragonimiasis (distomiasis; endemic hemoptysis)
Paragonimiasis (Distomiasis; Endemic Hemoptysis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic lung infection; causative agent is Paragonimus trematode; transmitted by eating undercooked crabs [...]
Vitreoretinal skeletal syndrome 1
Vitreoretinal Skeletal Syndrome                                                                                                            1 General: Associated with various systemic skeletal abnormalities; autosomal dominant. Ocular: Opt [...]
Van der hoeve syndrome (osteogenesis imperfecta; osteopsathyrosis; ekman syndrome; lobstein syndrome; spurway syndrome; vrolik syndrome; eddowes syndrome; brittle bone disease)
Van Der Hoeve Syndrome (Osteogenesis Imperfecta; Osteopsathyrosis; Ekman Syndrome; Lobstein Syndrome; Spurway Syndrome; Vrolik Syndrome; Eddowes Syndrome; Brittle Bone Disease)Â Â Â General: Autosomal dominant. Ocular: Glaucoma; blue scler [...]
Parkinson syndrome (paralysis agitans; shaking palsy)
Parkinson Syndrome (Paralysis Agitans; Shaking Palsy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Late stages of epidemic encephalitis; present with arteriosclerosis and with manganese and carbon monoxide po [...]
Histiocytosis x (hand-schuller-christian syndrome; lipoid granuloma; xanthomatous granuloma syndrome; schuller-christian-hand syndrome; letterer-siwe syndrome; acute histiocytosis x; eosinophilic granuloma; reticuloendotheliosis syndrome) 5
Histiocytosis X (Hand-Schuller-Christian Syndrome; Lipoid Granuloma; Xanthomatous Granuloma Syndrome; Schuller-Christian-Hand Syndrome; Letterer-Siwe Syndrome; Acute Histiocytosis X; Eosinophilic Granuloma; Reticuloendotheliosis Syndrome)Â Â Â Â Â Â Â Â Â [...]
Basal cell carcinoma 123
Basal Cell Carcinoma &n [...]
Hypothalamique carrefour syndrome (carrefour hypothalamique syndrome)
Hypothalamique Carrefour Syndrome (Carrefour Hypothalamique Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Onset is sudden with hemiplegia; etiology unknown. Ocular: Visual loss. Clinical: Hypertension; hemianesthesia; apraxia; aste [...]
Thelaziasis 1
Thelaziasis                                                                                                                                                1 General: Ocular infection caused mainly by the nematode Thelazia callipardon; natura [...]
Bazzana syndrome (angiospastic ophthalmo-auricular syndrome) 128
Bazzana Syndrome (Angiospastic Ophthalmo-Auricular Syndrome) &nb [...]
Legg-perthes disease (legg-calve-perthes disease; legg-calve-waldenstrom syndrome; coxa plana; legg disease; legg-calve disease)
Legg-Perthes Disease (Legg-Calve-Perthes Disease; Legg-Calve-Waldenstrom Syndrome; Coxa a; Legg Disease; Legg-Calve Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: [...]
Progressive systemic sclerosis (scleroderma; systemic scleroderma)
Progressive Systemic Sclerosis (Scleroderma; Systemic Scleroderma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic connective tissue disease of unknown etiology; chronic and usually progressive disorder; typical onset is in [...]
Negative acceleration syndrome (hydrostatic pressure syndrome; supersonic bailout syndrome)
Negative Acceleration Syndrome (Hydrostatic Pressure Syndrome; Supersonic Bailout Syndrome) General: At rapid deceleration, blood volume is shifted to the brain and face of the individual due to rapid elevation of intravascular blood pressu [...]
Beard disease (neurasthenia; nervous exhaustion) 131
Beard Disease (Neurasthenia; Nervous Exhaustion) &nbs [...]
Olivopontocerebellar atrophy iii (opca iii; opca with retinal degeneration)
Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; neurologic lesion; dominant with variable penetration. Ocular: Retinopathy variable: peripheral, macular [...]
Hie syndrome (hyperimmunoglobulinemia e syndrome) 5
HIE Syndrome (Hyperimmunoglobulinemia E Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Mononuclear cells inhibit normal neutrophil and monocyte chemotaxis; caused by Staphylococcus aureus and Candida tr [...]
Forsius-eriksson syndrome (aland disease)
Forsius-Eriksson Syndrome (Aland Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Associated with the natives of the Aland Islands; sex-linked inheritance; consanguinity versus mutant [...]
Macular edema, cystoid
Macular Edema, Cystoid                                                                                                                          General: Autosomal dominant; edema due to leaking perimacular capillaries. Ocular: Retinal cap [...]
Dimmer syndrome (keratitis nummularis) 370
Dimmer Syndrome (Keratitis Nummularis) &n [...]
Capgras syndrome (illusion of double syndrome; l’illusion des sosies; phantom double syndrome; nonrecognition-misidentification syndrome) 193
Capgras Syndrome (Illusion of Double Syndrome; L’illusion des Sosies; Phantom Double Syndrome; Nonrecognition-Misidentification Syndrome) &nb [...]
Multiple mucosal neuromata with endocrine tumors syndrome (multiple mucosal neuromas, pheochromocytoma, and medullary thyroid carcinoma syndrome)
Multiple Mucosal Neuromata with Endocrine Tumors Syndrome (Multiple Mucosal Neuromas, Pheochromocytoma, and Medullary Thyroid Carcinoma Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Pheochromocytoma can be inherited and [...]
Pyostomatitis
Pyostomatitis                                                                                                                                            General: Reaction of chronic inflamed skin due to secondary infection; body resistance [...]
Frontometaphyseal dysplasia (fmd) 4
Frontometaphyseal Dysplasia (FMD)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Sex-linked; rare; bony dysplasia. Ocular: Strabismus; supraorbital deformity; hyperopia; hyper [...]
Leiomyoma
Leiomyoma                                                                                                                                                General: Rare, benign tumor that arises from smooth muscle; usually well encapsulated. [...]
Superior vena cava syndrome (vena cava superior syndrome) 1
Superior Vena Cava Syndrome (Vena Cava Superior Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Compression or obstruction of the superior vena cava by aortic aneurysms, mediastinal neoplasms, thyroid adenoma, or car [...]
Partial trisomy 16q syndrome
Partial Trisomy 16q Syndrome                                                                                                                General: Partial trisomy 16q with chromosome banding; rare. Ocular: Narrow palpebral fissures; ant [...]
Bacterial endocarditis
Bacterial Endocarditis General: Inflammation of the lining on the heart caused by an infective agent. Ocular: Conjunctival petechial hemorrhages; retinal hemorrhages; Roth spots; cotton-wool spots; branch or central retinal arterial occlus [...]
Optic atrophy, juvenile (optic atrophy, congenital; kjer-type optic atrophy; optic atrophy, kjer-type; oak syndrome [optic atrophy, kjer type])
Optic Atrophy, Juvenile (Optic Atrophy, Congenital; Kjer-Type Optic Atrophy; Optic Atrophy, Kjer-Type; OAK Syndrome [Optic Atrophy, Kjer Type])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; [...]
Uveal effusion syndrome
Uveal Effusion Syndrome                                                                                                                      General: Congenital anomaly of sclera and, in some cases, the vortex vein; inability to transport e [...]
Chromosome 13q partial deletion (long-arm syndrome; 13q syndrome) 245
Chromosome 13q Partial Deletion (Long-Arm Syndrome; 13q Syndrome) [...]
Pendred syndrome (sporadic goiter with deafness)
Pendred Syndrome (Sporadic Goiter with Deafness)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; defect in thyroxine biosynthesis. Ocular: Retinal pigmentary degenerative changes; p [...]
Sjögren-larsson syndrome (oligophrenia ichthyosis spastic diplegia syndrome) 1
Sjögren-Larsson Syndrome (Oligophrenia Ichthyosis Spastic Diplegia Syndrome)                         1 General: Rare; autosomal recessive; consanguinity; loss of neurons and gliosis throughout gray matter; autosomal recessively inherited di [...]
U
U UGH Syndrome (Uveitis-Glaucoma-Hyphema Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by a defective anterior chamber lens; can be caused by toxic substance incorporated into the plasti [...]
Cestan-chenais syndrome (cestan [1] syndrome) 229
Cestan-Chenais Syndrome (Cestan [1] Syndrome) & [...]
Hypertrichosis (hirsutism)
Hypertrichosis (Hirsutism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Excessive hair growth due to endocrinologic or physiologic states. Ocular: Keratitis [...]
Nocardiosis
Nocardiosis                                                                                                                                                General: Aerobic Actinomycetaceae that may cause a chronic suppurative process; aerob [...]
Ethan syndrome, secondary
Ethan Syndrome, Secondary                                                                                                                   General: Classic nystagmus blockage syndrome, but after strabismus surgery development of head turn [...]
Ophthalmodynia hypertonica copulationis syndrome
Ophthalmodynia Hypertonica Copulationis Syndrome                                                                        General: Provocation of a diagnosed and otherwise controlled angle-closure glaucoma by prolonged sexual intercourse in t [...]
Doyne honeycomb choroiditis (dominant orbruch membrane drusen; hutchinson-tays central guttate choroiditis; holthouse-batten superficial choroiditis; malattia-leventinese syndrome) 384
Doyne Honeycomb Choroiditis (Dominant Orbruch Membrane Drusen; Hutchinson-Tays Central Guttate Choroiditis; Holthouse-Batten Superficial Choroiditis; Malattia-Leventinese Syndrome) 384 General: Autosomal domin [...]
Spastic paraplegia, x-linked (sppx)
Spastic Paraplegia, X-Linked (SPPX)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: X-linked; early onset; slow progression and long survival with eventual involvement of the cerebe [...]
Rebeitz-kolodny-richardson syndrome
Rebeitz-Kolodny-Richardson Syndrome                                                                                              General: Etiology unknown; possibly metabolic failure at cellular level; occurs in late middle age; neural achr [...]
Glander syndrome
Glander Syndrome                                                                                                                                   General: Serious infection caused by Malleomyces mallei; no naturally acquired infections in [...]
Flynn-aird syndrome 4
Flynn-Aird Syndrome                                                                                                                              4 General: May be basic hereditary enzyme deficiency, probably autosomal dominant; no sex predi [...]
Parinaud oculoglandular syndrome (parinaud conjunctiva-adenitis syndrome; catscratch oculoglandular syndrome; catscratch disease; bartonella henselae)
Parinaud Oculoglandular Syndrome (Parinaud Conjunctiva-Adenitis Syndrome; Catscratch Oculoglandular Syndrome; Catscratch Disease; Bartonella henselae)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Most frequently seen in childre [...]
Hemimacrosomia syndrome (steiner syndrome; hemigigantism; hemifacial or unilateral hypertrophy)
Hemimacrosomia Syndrome (Steiner Syndrome; Hemigigantism; Hemifacial or Unilateral Hypertrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Ge [...]
Angiolymphoid hyperplasia with eosinophilia (kimura disease)
Angiolymphoid Hyperplasia with Eosinophilia (Kimura Disease) General: Benign, slow-growing tumor involving primarily the face and scalp; etiology unknown but inflammatory reaction suspected; occurring primarily in young Oriental males. O [...]
Dirofilariasis 372
Dirofilariasis &n [...]
Grönblad-strandberg syndrome (systemic elastodystrophy; pseudoxanthoma elasticum; elastorrhexis; darier-grönblad-strandberg syndrome)
Grönblad-Strandberg Syndrome (Systemic Elastodystrophy; Pseudoxanthoma Elasticum; Elastorrhexis; Darier-Grönblad-Strandberg Syndrome)                                                                                              General: Aut [...]
Engelmann syndrome (osteopathia hyperostotica [scleroticans] multiplex infantilis; diaphyseal dysplasia; camurati-engelmann disease; hereditary multiple diaphyseal sclerosis; juvenile paget disease)
Engelmann Syndrome (Osteopathia Hyperostotica [Scleroticans] Multiplex Infantilis; Diaphyseal Dysplasia; Camurati-Engelmann Disease; Hereditary Multiple Diaphyseal Sclerosis; Juvenile et Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Bamatter syndrome (osteoplastic geroderma; walt disney dwarfism)
Bamatter Syndrome (Osteoplastic Geroderma; Walt Disney Dwarfism) General: Hereditary X-linked; rare; onset in early childhood; precocious aging; osteoporosis; autosomal recessive inheritance. Ocular: Glaucoma; microphthalmia; microcornea; [...]
Roy syndrome 1
Roy Syndrome                                                                                                                                         1 General: Long history of smoking tobacco. Ocular: Cataract, usually unilateral, posterio [...]
Uyemura syndrome (fundus albipunctatus with hemeralopia and xerosis)
Uyemura Syndrome (Fundus Albipunctatus with Hemeralopia and Xerosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare; resembles retinitis punctata albescens, fundus albipunctatus, and congenital idiopathic night blindness or Oguchi disease; [...]
I
I Impetigo                                                                                                                                                     General: Superficial primary pyoderma caused by streptococci and Staphy [...]
Epiphyseal dysplasia, microcephaly, and nystagmus
Epiphyseal Dysplasia, Microcephaly, and Nystagmus                                                                           General: Autosomal recessive. Ocular: Nystagmus; retinitis pigmentosa. Clinical: Epiphyseal dysplasia; microcep [...]
Pappataci fever (phlebotomus fever; sandfly fever)
Pappataci Fever (Phlebotomus Fever; Sandfly Fever)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Viral etiology; transmitted by the sandfly Phlebotomus papatasii. Ocular: Pick sign of conjunctiva (conj [...]
Cone-rod dystrophy (crd) 274
Cone-Rod Dystrophy (CRD) &nbs [...]
Nystagmus, hereditary vertical 8
Nystagmus, Hereditary Vertical                                                                                                              8 General: Autosomal dominant. Ocular: Motor-type vertical and horizontal nystagmus; hyperactive v [...]
Newcastle disease (fowlpox) 8
Newcastle Disease (Fowlpox)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Acquired directly by people handling chickens (see Parinaud Oculoglandular Syndrome); se [...]
Myopia, sex-linked
Myopia, Sex-Linked                                                                                                                                  General: Sex-linked; linkage to factor VIII gene; probable location Xq28. Ocular: Myopia; [...]
Encephalitis, acute
Encephalitis, Acute                                                                                                                                   General: In approximately 0.1% to 0.2% of patients having rubeola (measles), an acute ence [...]
Sprengel syndrome (high scapula congenita) 1
Sprengel Syndrome (High Scapula Congenita)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology unknown; nonprogressive. Ocular: Hypertelorism. Clinical: One scapula short in vertical ax [...]
Biemond syndrome 145
Biemond Syndrome [...]
Rosenberg-chutorian syndrome 1
Rosenberg-Chutorian Syndrome                                                                                                          1 General: Recessive inheritance; inheritance is considered X-linked semidominant. Ocular: Optic atrophy. [...]
Retrolental fibroplasia (rlf; retinopathy of prematurity)
Retrolental Fibroplasia (RLF; Retinopathy of Prematurity)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Bilateral disease seen primarily in premature infants with immature retinal vessels; excessive use of oxygen re [...]
Ormond syndrome (retroperitoneal fibrosis)
Ormond Syndrome (Retroperitoneal Fibrosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Periureteral fibrosis that constricts ureter; most frequent in males; average age at onset is 46 years [...]
Diphtheria 371
Diphtheria [...]
Reticular degeneration of pigment epithelium (rdpe)
Reticular Degeneration of Pigment Epithelium (RDPE)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; associated with age-related macular degeneration. Ocular: Hypopigmentation of retinal pigme [...]
Kahler disease (myelomatosis; multiple myeloma)
Kahler Disease (Myelomatosis; Multiple Myeloma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Disseminated malignancy of plasma cells located predominantly in the bone marrow. Ocular: Tumor of orb [...]
Lyme disease
Lyme Disease                                                                                                                                             General: Caused by tick bite; symptoms resolve after treatment. Ocular: Keratitis may [...]
Papillon-leage-psaume syndrome (oro-digital-facial syndrome; linguofacial dysplasia of grob; gorlin syndrome; dysplasia linguofacialis; ofd syndrome; oro-digital-facial dysostosis; grob linguofacial dysplasia)
Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis; Grob Linguofacial Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Barrier deprivation syndrome (binkhorst membrane deprivation syndrome; worst decompartmentalization of eye syndrome)
Barrier Deprivation Syndrome (Binkhorst Membrane Deprivation Syndrome; Worst Detmentalization of Eye Syndrome) General: Intracapsular cataract extraction; trauma to posterior capsule with extracapsular cataract extraction; more frequent in [...]
Cataract, congenital or juvenile (cataract, juvenile, hutterite type) 205
Cataract, Congenital or Juvenile (Cataract, Juvenile, Hutterite Type) [...]
Peters anomaly
Peters Anomaly                                                                                                                                         General: Autosomal recessive; may be morphologic entity with several eye syndromes, inclu [...]
Microphthalmos, myopia, and corectopia
Microphthalmos, Myopia, and Corectopia                                                                                             General: Autosomal dominant; characterized by microphthalmos, myopia, and corectopia. Ocular: Microphthalm [...]
Choroidoretinal degeneration with retinal reflex in heterozygous women 242
Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women [...]
Komoto syndrome (congenital eyelid tetrad; cet) 6
Komoto Syndrome (Congenital Eyelid Tetrad; CET)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal dominant; all races affected; most patients are of normal intelligence. Ocular: Ptosis; epicant [...]
Hansen disease (leprosy) 5
Hansen Disease (Leprosy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Communicable disease caused by Mycobacterium leprae. Ocular: Keratitis; leukoma; pan [...]
Jugular foramen syndrome (vernet syndrome) 6
Jugular Foramen Syndrome (Vernet Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Injuries, aneurysms, and tumors (more commonly due to metastatic lesion than primary neoplasms) affecting [...]
Foster kennedy syndrome (basal-frontal syndrome; gowers-paton-kennedy syndrome)
Foster Kennedy Syndrome (Basal-Frontal Syndrome; Gowers-Paton-Kennedy Syndrome)Â Â Â Â Â Â Â Â Â Â Â General: Caused by tumor in base of frontal lobe or sphenoidal meningioma. Ocular: Central scotoma may be present on side of optic atrophy; enlarge [...]
Ohaha syndrome (ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis)
OHAHA Syndrome (Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, Athetosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis (OHARA) are distinguishing symptoms; sudden onset of deafness at an age [...]
Ophthalmoplegia, progressive external, with ragged red fibers
Ophthalmoplegia, Progressive External, with Ragged Red Fibers                                                      General: Autosomal dominant. Ocular: Progressive ophthalmoplegia. Clinical: Ragged red fibers in skeletal muscle from t [...]
Williams-beuren syndrome (supravalvular aortic stenosis; beuren elfin face; hypercalcemia supravalvular aortic stenosis; hypercalcemic face)
Williams-Beuren Syndrome (Supravalvular Aortic Stenosis; Beuren Elfin Face; Hypercalcemia Supravalvular Aortic Stenosis; Hypercalcemic Face)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Corneal crystals, myopathy, and nephropathy 296
Corneal Crystals, Myopathy, and Nephropathy &nb [...]
Capsular block syndrome 195
Capsular Block Syndrome [...]
Thalasselis syndrome 1
Thalasselis Syndrome                                                                                                                             1 General: Keratoconus-tetany-menopause. Ocular: Spontaneous keratoconus. Clinical: Syndrom [...]
German syndrome (fetal trimethadione; tridione)
German Syndrome (Fetal Trimethadione; Tridione)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Both sexes affected; prenatal onset; occurs when trimethadione or paramethadione is taken during pregnancy [...]
Wagner syndrome (hyaloideoretinal degeneration; hereditary hyaloideoretinal degeneration and palatoschisis; clefting syndrome; goldmann-favre syndrome; favre hyaloideoretinal degeneration; retinoschisis with early hemeralopia) 1
Wagner Syndrome (Hyaloideoretinal Degeneration; Hereditary Hyaloideoretinal Degeneration and Palatoschisis; Clefting Syndrome; Goldmann-Favre Syndrome; Favre Hyaloideoretinal Degeneration; Retinoschisis with Early Hemeralopia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Retinal vascular hypoplasia with persistence of primary vitreous
Retinal Vascular Hypoplasia with Persistence of Primary Vitreous                                                  General: Bilateral congenital retinopathy characterized by retinal vascular hypoplasia and persistence of primary vitreous; e [...]
Pigmentary ocular dispersion syndrome (pigmentary glaucoma)
Pigmentary Ocular Dispersion Syndrome (Pigmentary Glaucoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Polygenic inheritance; onset at average age 52 years; distribution of pigment in chamber angle; atrophy of posterior ir [...]
Metastatic bacterial endophthalmitis
Metastatic Bacterial Endophthalmitis                                                                                                     General: Causative agent usually of low pathogenicity (e.g., Staphylococcus albus, Staphylococcus epide [...]
Measles (morbilli; rubeola) 7
Measles (Morbilli; Rubeola)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Acute, extremely communicable disease that affects young school-aged children; caused [...]
Wallenberg syndrome (dorsolateral medullary syndrome; lateral bulbar syndrome) 1
Wallenberg Syndrome (Dorsolateral Medullary Syndrome; Lateral Bulbar Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Occlusion of the posterior inferior cerebellar artery; onset after age 40 years; similar to Babinski-Nageotte syndrome but crossed hemi [...]
Kaufman oculocerebrofacial syndrome 6
Kaufman Oculocerebrofacial Syndrome                                                                                                6 General: Autosomal recessive; significant positive and negative features. Ocular: Hypertelorism; epicantha [...]
Sunset syndrome 1
Sunset Syndrome                                                                                                                                    1 General: Occurs when the capsule or zonules have been sufficiently damaged to allow the post [...]
Amebiasis (amebic dysentery, entamoeba histolytica)
Amebiasis (Amebic Dysentery, Entamoeba Histolytica)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by Entamoeba histolytica; E. histolytica cysts in stools are diagnostic. Ocular: Conjunctivit [...]
Velocardiofacial syndrome
Velocardiofacial Syndrome                                                                                                                    General: Autosomal dominant; anomaly of neural crest derivatives; most common syndrome of clefting [...]
Headache neurologic defects and cerebrospinal fluid lymphcytosis syndrome 5
Headache Neurologic Defects and Cerebrospinal Fluid Lymphcytosis Syndrome                             5 General: Age range 7-52 years of age; no gender bias Ocular: Papillema; homonymous hemianopia; photopsias; sixth nerve palsy Clini [...]
Isotretinoin teratogen syndrome
Isotretinoin Teratogen Syndrome                                                                                                            General: Maternal ingestion of isotretinoin (Accutane) during early pregnancy. Ocular: Small palpeb [...]
Dengue fever 357
Dengue Fever &nbs [...]
Polymyositis-dermatomyositis (dermatomucomyositis; neuromyositis; polymyositis gregarina; wagner-unverricht syndrome)
Polymyositis-Dermatomyositis (Dermatomucomyositis; Neuromyositis; Polymyositis Gregarina; Wagner-Unverricht Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Aut [...]
Pompe disease (generalized glycogenosis)
Pompe Disease (Generalized Glycogenosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Absence of acid maltase; type II glycogen storage disease with decreased acid maltase resulting in el [...]
Joubert syndrome (familial cerebellar vermis agenesis)
Joubert Syndrome (Familial Cerebellar Vermis Agenesis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; both sexes affected; onset in early infancy. Ocular: Choroidal coloboma; nystagmus; oc [...]
Dermoid (dermoid choristoma; dermoid cyst; dermolipoma; lipodermoid) 361
Dermoid (Dermoid Choristoma; Dermoid Cyst; Dermolipoma; Lipodermoid) &nb [...]
Bonnet-dechaume-blanc syndrome (cerebroretinal arteriovenous aneurysm syndrome; neuroretinoangiomatosis syndrome; wyburn-mason syndrome) 163
Bonnet-Dechaume-Blanc Syndrome (Cerebroretinal Arteriovenous Aneurysm Syndrome; Neuroretinoangiomatosis Syndrome; Wyburn-Mason Syndrome) &nbs [...]
Von sallmann-paton-witkop syndrome (hereditary benign intraepithelial dyskeratosis; witkop-von sallmann syndrome; hbid syndrome) 1
Von Sallmann-Paton-Witkop Syndrome (Hereditary Benign Intraepithelial Dyskeratosis; Witkop-von Sallmann Syndrome; HBID Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant; conjun [...]
Tapetal-like reflex syndrome 1
Tapetal-Like Reflex Syndrome                                                                                                              1 General: Rare. Ocular: Ring scotoma; discrete bright yellow spots in posterior polar region deep t [...]
Rubella syndrome (congenital rubella syndrome; german measles; gregg syndrome) 1
Rubella Syndrome (Congenital Rubella Syndrome; German Measles; Gregg Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Rubella infection of the mother during first trimester of pregnancy; ocular disease is the most commonly found abnormality in patients wit [...]
Hennebert syndrome (luetic-otitic-nystagmus syndrome) 5
Hennebert Syndrome (Luetic-Otitic-Nystagmus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Caused by congenital syphilis; manifestations in childhood; when a fistula in the labyrinth exists, compression o [...]
Hartnup syndrome (pellagra-cerebellar ataxia-renal aminoaciduria syndrome; h disease; niacin deficiency)
Hartnup Syndrome (pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome; H Disease; Niacin Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Pityriasis rubra pilaris (kaposi disease [2]; devergie disease; hebra disease; tarral-besnier disease; lichen ruber; lichen ruber acuminatus; pityriasis pilaris) 9
Pityriasis Rubra Pilaris (Kaposi Disease [2]; Devergie Disease; Hebra Disease; Tarral-Besnier Disease; Lichen Ruber; Lichen Ruber Acuminatus; Pityriasis Pilaris)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Abnormal keratinizat [...]
H
H Haemophilus Aegyptius (Koch-Weeks Bacillus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by gram-negative Koch-Weeks bacillus in warm-climate regions; characterized by a 24- [...]
Naffziger syndrome (scalenus anticus syndrome)
Naffziger Syndrome (Scalenus Anticus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Compression of brachial plexus and subclavian artery by scalenus anticus muscle; symptoms vary from mild, [...]
P
P e Syndrome (Hypertensive Diencephalic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Irritation of parasympathetic and sympathetic centers in diencephalon; intradermal histamine 0.25 mg [...]
Cerebellar degeneration with slow movements 221
Cerebellar Degeneration with Slow Movements &nb [...]
Oculocerebellar tegmental syndrome
Oculocerebellar Tegmental Syndrome                                                                                                    General: Vascular lesion of mesencephalon with softening in peduncular area. Ocular: Paralysis of associ [...]
Hypotrichosis with juvenile macular dystrophy syndrome (hjmd)
Hypotrichosis with juvenile macular dystrophy syndrome (HJMD)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare; autosomal recessive. Ocular: Macular dystrophy; hypotrichosis; vitreous hemorrhage in newborns Clinical: [...]
Cushing (1) syndrome (adrenocortical syndrome; hyperadrenalism syndrome; pituitary basophilism; suprarenal syndrome) 335
Cushing (1) Syndrome (Adrenocortical Syndrome; Hyperadrenalism Syndrome; Pituitary Basophilism; Suprarenal Syndrome) &nb [...]
Pupil, egg-shaped
Pupil, Egg-Shaped                                                                                                                                  General: Autosomal dominant; rare. Ocular: Oval pupils; enlarged pupils; pupils react poor [...]
Leri syndrome (pleonosteosis syndrome; carpal tunnel syndrome)
Leri Syndrome (pleonosteosis Syndrome; Carpal Tunnel Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant type of congenital osseous dystrophy; early epiphyseal bone formation of extremities; Morton metatars [...]
Arthrogryposis multiplex congenita
Arthrogryposis Multiplex Congenita General: Heterogeneous group of disorders of multiple proposed etiologies; often one manifestation of a complex of congenital anomalies; probable autosomal recessive transmission; found in Eskimos; affects [...]
Schizophrenia 1
Schizophrenia                                                                                                                                          1 General: Organic brain syndrome due to degeneration or toxic, infectious, or metabolic c [...]
Argyll robertson syndrome (spinal miosis)
Argyll Robertson Syndrome (Spinal Miosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by syphilis or, rarely, epidemic encephalitis; disseminated sclerosis; diabetes; brain [...]
Darier-white syndrome (keratosis follicularis; dyskeratosis follicularis syndrome; psorospermosis) 345
Darier-White Syndrome (Keratosis Follicularis; Dyskeratosis Follicularis Syndrome; Psorospermosis) &nb [...]
Craniofacial, deafness, hand syndrome 312
Craniofacial, Deafness, Hand Syndrome &nb [...]
Rhabdomyosarcoma
Rhabdomyosarcoma                                                                                                                               General: Most common malignant orbital neoplasm of childhood; usually occurs before age 10 years; [...]
Optic nerve hypoplasia, familial (bilateral, unilateral)
Optic Nerve Hypoplasia, Familial (Bilateral, Unilateral)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; congenital defect of optic nerve and retina that occurs in both unilateral and bila [...]
Osteogenesis imperfecta congenita, microcephaly, and cataracts
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts                                                     General: Autosomal recessive. Ocular: Cataracts; blue sclera; keratoconus. Clinical: Brain abnormally small; multiple p [...]
Oculocerebrocutaneous syndrome (delleman syndrome)
Oculocerebrocutaneous Syndrome (Delleman Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Congenital; possibly autosomal recessive or a result of an environmental problem; Dutch descent appears to be a p [...]
Cherry-red spot myoclonus syndrome (type i sialidosis) 235
Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis) &nbs [...]
Brown-marie syndrome (brown-marie ataxic syndrome; sanger brown syndrome; hereditary ataxia syndrome; marie hereditary ataxia) 176
Brown-Marie Syndrome (Brown-Marie Ataxic Syndrome; Sanger Brown Syndrome; Hereditary Ataxia Syndrome; Marie Hereditary Ataxia) &nb [...]
Smallpox (variola)
Smallpox (Variola)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Highly contagious cutaneous disease caused by viral infection. Ocular: Conjunctiv [...]
Sunrise syndrome 1
Sunrise Syndrome                                                                                                                                   1 General: Occurs when the intraocular lens (IOL) optic is displaced superiorly out of the vis [...]
Morphea (localized scleroderma; circumscribed scleroderma)
Morphea (Localized Scleroderma; Circumscribed Scleroderma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Localized chronic connective tissue disease of unknown etiology; etiology remains unknown, although there is a possi [...]
Ganser syndrome (pseudodementia; nonsense syndrome; prison psychosis syndrome) 4
Ganser Syndrome (Pseudodementia; Nonsense Syndrome; Prison Psychosis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Found in prisoners and patients with schizophrenia; disparity between the person's complaints and mental alertness. Ocular: Patient [...]
Histidinemia (hyperhistidinemia; histidase deficiency) 5
Histidinemia (Hyperhistidinemia; Histidase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Autosomal recessive; abnormality of amino acid metabolism due to lack of enzyme histidine ammonia lyase; [...]
Batten-mayou syndrome (spielmeyer-vogt syndrome; mayou-batten disease; stock-spielmeyer- vogt syndrome; cerebroretinal degeneration; pigmentary retinal lipoid neuronal heredodegeneration; vogt-spielmeyer syndrome; juvenile ganglioside lipidosis; neuronal ceroid lipofuscinosis; myoclonic variant of cerebral lipidosis; batten disease; cerebromacular dystrophy; juvenile amaurotic family idiocy; spielmeyer-sjögren syndrome) 127
Batten-Mayou Syndrome (Spielmeyer-Vogt Syndrome; Mayou-Batten Disease; Stock-Spielmeyer- Vogt Syndrome; Cerebroretinal Degeneration; Pigmentary Retinal Lipoid Neuronal Heredodegeneration; Vogt-Spielmeyer Syndrome; Juvenile Gangl [...]
Tropical pancreatic diabetes (tpd)
Tropical Pancreatic Diabetes (TPD)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Secondary diabetes as a result of chronic calcific pancreatitis; limited geographically to a few [...]
Bornholm disease (epidemic pleurodynia) 164
Bornholm Disease (Epidemic Pleurodynia) & [...]
Macular dystrophy, fenestrated sheen type
Macular Dystrophy, Fenestrated Sheen Type                                                                                        General: Autosomal dominant; progressive; onset in the sixth decade. Ocular: Yellowish retractile sheen in se [...]
Iron deficiency anemia (microcytic hypochromic anemia)
Iron Deficiency Anemia (Microcytic Hypochromic Anemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Conjunctival pallor; small retinal hemorrhages; diplopia; visual field defects; fixed and dilated pupil; swelling [...]
Vertebral basilar artery syndrome
Vertebral Basilar Artery Syndrome                                                                                                      General: 'Whiplash' injury with hyperextension of the neck followed by rapid forward movement of the head [...]
Meningococcemia (neisseria meningitides; meningitis) 7
Meningococcemia (Neisseria Meningitides; Meningitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Systemic bacterial infection caused by Neisseria meningitides; can be present chronically in patients wit [...]
Cushing (2) syndrome (angle tumor syndrome; cerebellopontine angle syndrome; pontocerebellar angle tumor syndrome; acoustic neuroma syndrome) 336
Cushing (2) Syndrome (Angle Tumor Syndrome; Cerebellopontine Angle Syndrome; Pontocerebellar Angle Tumor Syndrome; Acoustic Neuroma Syndrome) &n [...]
Hurler syndrome (pfaundler-hurler syndrome; gargoylism; dysostosis multiplex; mps ih syndrome; systemic mucopolysaccharidosis type ih; mucopolysaccharidosis ih) 5
Hurler Syndrome (Pfaundler-Hurler Syndrome; Gargoylism; Dysostosis Multiplex; MPS IH Syndrome; Systemic Mucopolysaccharidosis Type IH; Mucopolysaccharidosis IH)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Autosomal recessive inh [...]
Infantile neuroaxonal dystrophy (seitelberger disease [2]; spastic amaurotic axonal idiocy)
Infantile Neuroaxonal Dystrophy (Seitelberger Disease [2]; Spastic Amaurotic Axonal Idiocy)Â Â Â Â Â Â Â General: Axonal disease; occurs chiefly in female infants, less frequently in older children; etiology possibly vitamin E deficiency; autosom [...]
Kearns-sayre syndrome (ophthalmoplegia plus syndrome; kearns-shy syndrome; kearns disease) 6
Kearns-Sayre Syndrome (Ophthalmoplegia Plus Syndrome; Kearns-Shy Syndrome; Kearns Disease)Â Â Â Â Â Â Â Â 6 General: Etiology unknown; sporadic (nonhereditary); onset before age 20 years; external ophthalmoplegia; complete heart block. Ocular: P [...]
Contact dermatitis (dermatitis venenata) 292
Contact Dermatitis (Dermatitis Venenata) [...]
Craniometaphyseal dysplasia syndrome (pyle syndrome; familial metaphyseal dysplasia; bakwin-krida syndrome; leontiasis ossea) 314
Craniometaphyseal Dysplasia Syndrome (Pyle Syndrome; Familial Metaphyseal Dysplasia; Bakwin-Krida Syndrome; Leontiasis Ossea) [...]
Ocular dominance
Ocular Dominance                                                                                                                                    General: Autosomal dominant; 97% of people with normal vision have a sighting-dominant eye; [...]
Nystagmus, primary hereditary (congenital nystagmus) 8
Nystagmus, Primary Hereditary (Congenital Nystagmus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Autosomal recessive, sex-linked or irregular dominant; may be associated with albinism. Ocular: Horizontal [...]
Hmc syndrome (hypertelorism, microtia, facial clefting syndrome)
HMC Syndrome (Hypertelorism, Microtia, Facial Clefting Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Developmental defect marked by an abnormally wide space between two organs or parts; autosomal recessive. Ocular: Hyp [...]
Carotid artery syndrome (carotid vascular insufficiency syndrome; ocular ischemic syndrome) 200
Carotid Artery Syndrome (Carotid Vascular Insufficiency Syndrome; Ocular Ischemic Syndrome) 200 General: Causes include microemboli, atherosclerotic plaques, arteritis, arterial compression by cicatricial tissue surro [...]
Creutzfeldt-jakob syndrome (spastic pseudosclerosis; corticostriatospinal degeneration; disseminated encephalopathy; heidenhaim syndrome; presenile dementia with spastic paralysis; presenile dementia-cortical degeneration syndrome) 321
Creutzfeldt-Jakob Syndrome (Spastic Pseudosclerosis; Corticostriatospinal Degeneration; Disseminated Encephalopathy; Heidenhaim Syndrome; Presenile Dementia with Spastic Paralysis; Presenile Dementia-Cortical Degeneration Syndrome)&nbs [...]
Corneal hypesthesia, familial 302
Corneal Hypesthesia, Familial [...]
Pancoast syndrome (hare syndrome; superior pulmonary sulcus syndrome)
Pancoast Syndrome (Hare Syndrome; Superior Pulmonary Sulcus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Mass occupying lesion in pulmonary apex; erosion of first three ribs frequent; primary bronchogenic carcinoma most frequent cause [...]
Ascher syndrome (blepharochalasis with struma and double lip)
Ascher Syndrome (Blepharochalasis with Struma and Double Lip) General: Rare occurrence; blepharochalasis transmitted as a simple dominant; related to development of thyroid gland; symptoms usually start around puberty. Ocular: 'Bulging' [...]
Neurodermatitis (lichen simplex chronicus)
Neurodermatitis (Lichen Simplex Chronicus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Skin altered due to chronic rubbing or scratching. Ocular: Keratoconjunctivitis; lid edema; lid pig [...]
Epithelial erosion syndrome (metaherpetic keratitis; kaufman syndrome; franceschetti dystrophy; posttraumatic keratitis)
Epithelial Erosion Syndrome (Metaherpetic Keratitis; Kaufman Syndrome; Franceschetti Dystrophy; Posttraumatic Keratitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Chronic epstein-barr virus (epstein-barr virus, chronic; chronic infectious mononucleosis) 248
Chronic Epstein-Barr Virus (Epstein-Barr Virus, Chronic; Chronic Infectious Mononucleosis) 248 General: Onset late adolescence or early adulthood; rare. Ocular: Bilateral uveit [...]
Proximal and distal click syndrome of the superior oblique tendon (simulated superior oblique tendon syndrome)
Proximal and Distal Click Syndrome of the Superior Oblique Tendon (Simulated Superior Oblique Tendon Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Oculopalatocerebral dwarfism (opc dwarfism)
Oculopalatocerebral Dwarfism (OPC Dwarfism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; persistent hyperplastic primary vitreous. Ocular: Persistent hypertrophic primary v [...]
Weil disease (leptospirosis)
Weil Disease (Leptospirosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute severe infection caused by Leptospira transmitted by ingestion of food contaminate [...]
Sandifer syndrome (hiatal hernia-torticollis syndrome) 1
Sandifer Syndrome (Hiatal Hernia-Torticollis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Inheritance not known; males affected; hiatal hernia. Ocular: Strabismus (not related to existing torticolli [...]
Oculo-orogenital syndrome (riboflavin deficiency syndrome; gopalan ii syndrome; jolliffe syndrome)
Oculo-Orogenital Syndrome (Riboflavin Deficiency Syndrome; Gopalan II Syndrome; Jolliffe Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Plateau iris syndrome 9
Plateau Iris Syndrome                                                                                                                              9 General: Rare; occurs in younger age group; presumably due in part to an anterior insertion [...]
Romberg syndrome (parry-romberg syndrome; progressive hemifacial atrophy; progressive facial hemiatrophy; facial hemiatrophy) 1
Romberg Syndrome (Parry-Romberg Syndrome; Progressive Hemifacial Atrophy; Progressive Facial Hemiatrophy; Facial Hemiatrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal do [...]
Oculocerebellar tegmental syndrome
Oculocerebellar Tegmental Syndrome                                                                                                    General: Vascular lesion of mesencephalon with softening in peduncular area. Ocular: Paralysis of associ [...]
Acanthosis nigricans
Acanthosis Nigricans                                                                                                                                      General: Rare skin disease of unknown etiology; occurs at any age; equal frequency in [...]
Ceroid lipofuscinosis 228
Ceroid Lipofuscinosis & [...]
Monofixation syndrome (blind spot syndrome; primary monofixation)
Monofixation Syndrome (Blind Spot Syndrome; Primary Monofixation)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: No hereditary factor; uncommon. Ocular: Deviation of eight prism diopters or less by simultaneous prism and cover test; [...]
- syndrome (18p deletion syndrome) 401
- Syndrome (18p Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 401 General: Chromosome 18p deletion syndrome. Ocular: Hyp [...]
Hypervitaminosis d
Hypervitaminosis DÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Excessive vitamin D ingestion. Ocular: Band keratopathy; epicanthal folds; osteo [...]
Beal syndrome 130
Beal Syndrome &nb [...]
Hallgren syndrome (retinitis pigmentosa-deafness-ataxia syndrome; usher syndrome type i) 5
Hallgren Syndrome (Retinitis Pigmentosa-Deafness-Ataxia Syndrome; Usher Syndrome Type I)Â Â 5 General: Autosomal recessive inheritance. Ocular: Horizontal nystagmus (10%); cataract; retinitis pigmentosa; retinal atrophy; narrow retinal ves [...]
Kimmelstiel-wilson syndrome (diabetes mellitus-hypertension-nephrosis syndrome; diabetes- nephrosis syndrome; diabetic glomerulosclerosis; intercapillary glomerulosclerosis; renal glomerulohyalinosis-diabetic syndrome)
Kimmelstiel-Wilson Syndrome (Diabetes Mellitus-Hypertension-Nephrosis Syndrome; Diabetes- Nephrosis Syndrome; Diabetic Glomerulosclerosis; Intercapillary Glomerulosclerosis; Renal Glomerulohyalinosis-Diabetic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Head-riddoch syndrome 5
Head-Riddoch Syndrome                                                                                                                         5 General: Occurs in quadriplegics; caused by distention of a viscus below the level of spinal cor [...]
Proteus syndrome
Proteus Syndrome                                                                                                                                   General: A harmarteo neoplastic disorder with variable clinical manifestations Ocular: Myo [...]
Craniosynostosis-mental retardation-clefting syndrome 318
Craniosynostosis-Mental Retardation-Clefting Syndrome [...]
Farber syndrome (farber lipogranulomatosis; disseminated lipogranulomatosis)
Farber Syndrome (Farber Lipogranulomatosis; Disseminated Lipogranulomatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive inheritance; onset shortly after birth; rare; ceramidase deficiency. Ocular: Parafoveal edema with mild che [...]
Papillon-leage-psaume syndrome (oro-digital-facial syndrome; linguofacial dysplasia of grob; gorlin syndrome; dysplasia linguofacialis; ofd syndrome; oro-digital-facial dysostosis; grob linguofacial dysplasia)
Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis; Grob Linguofacial Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Mikulicz-radecki syndrome (mikulicz syndrome; dacryosialoadenopathy; mikulicz-sjögren syndrome)
Mikulicz-Radecki Syndrome (Mikulicz Syndrome; Dacryosialoadenopathy; Mikulicz-Sjögren Syndrome)                                                                                                                                                 [...]
Addison syndrome (addison disease; idiopathic hypoparathyroidism; adrenal cortical insufficiency; moniliasis-idiopathic hypoparathyroidism)
Addison Syndrome (Addison Disease; Idiopathic Hypoparathyroidism; Adrenal Cortical  Insufficiency; Moniliasis-Idiopathic Hypoparathyroidism)                                                                                                 Ge [...]
Hepatic failure 5
Hepatic Failure                                                                                                                                          5 General: Liver failure from infections or from toxic or inflammatory causes. Ocular: [...]
Weber-christian syndrome (pfeiffer-weber-christian syndrome) 1
Weber-Christian Syndrome (Pfeiffer-Weber-Christian Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology unknown; subcutaneous inflammatory lesions; occurs at any age; no gender dominance. Ocular: Secondary glauc [...]
Cerebral autosomal domint arteriopathy 222
Cerebral Autosomal Domint Arteriopathy &n [...]
Retinopathy, pigmentary, and mental retardation (mirhosseini-holmes-walton syndrome)
Retinopathy, Pigmentary, and Mental Retardation (Mirhosseini-Holmes-Walton Syndrome)Â Â Â Â Â Â Â General: Autosomal recessive; this disorder may be the same as (or alleli) to Cohen syndrome. Ocular: Pigmentary retinal degeneration; cataract; [...]
Pseudopapilledema (optic nerve head drusen)
Pseudopapilledema (Optic Nerve Head Drusen)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; incidence in males and females is approximately the same; two thirds of cases are bila [...]
Nystagmus, congenital (congenital idiopathic nystagmus) 8
Nystagmus, Congenital (Congenital Idiopathic Nystagmus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Autosomal dominant; pattern of inheritance in congenital nystagmus, whether of the 'motor' or 'sensory' type, [...]
Nystagmus, voluntary 8
Nystagmus, Voluntary                                                                                                                              8 General: Autosomal dominant; usually is purely horizontal, but it may be vertical or-torsiona [...]
Pappataci fever (phlebotomus fever; sandfly fever)
Pappataci Fever (Phlebotomus Fever; Sandfly Fever)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Viral etiology; transmitted by the sandfly Phlebotomus papatasii. Ocular: Pick sign of conjunctiva (conj [...]
Arnold-chiari syndrome
Arnold-Chiari Syndrome (Platybasia Syndrome; Cerebellomedullary Malformation Syndrome; Â Basilar Impressions) General: Malformation of the hindbrain; developmental deformity of the occipital bone and upper cervical spine; recognized in childr [...]
Wrinkly skin syndrome 1
Wrinkly Skin Syndrome                                                                                                                         1 General: Autosomal recessive; consanguinity; similar to pseudoxanthoma elasticum and Ehlers-Danlo [...]
Dominant optic atrophy syndrome (dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy) 379
Dominant Optic Atrophy Syndrome (Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy) &nbs [...]
Charlin syndrome (nasal nerve syndrome; nasociliaris nerve syndrome; nasociliary syndrome) 233
Charlin Syndrome (Nasal Nerve Syndrome; Nasociliaris Nerve Syndrome; Nasociliary Syndrome) 233 General: Neuritis of the nasal branch of the trigeminal nerve; three typical spots of pain according to the nerve dis [...]
Pseudo malignant glaucoma syndrome
Pseudo malignant Glaucoma Syndrome                                                                                               General: Related to obstruction of aqueous flow either by residual anterior hyaloid or by fibrin and other infl [...]
Unverricht syndrome (familial myoclonia syndrome; lafora disease)
Unverricht Syndrome (Familial Myoclonia Syndrome; Lafora Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Fatal hereditary form of diffuse neuronal disease; autosomal recessive; late childhood; death within 2 to 10 years from on [...]
Color blindness, partial, deutan series (deuteranopia) 270
Color Blindness, Partial, Deutan Series (Deuteranopia) &nbs [...]
Nothnagel syndrome (ophthalmoplegia-cerebellar ataxia syndrome) 8
Nothnagel Syndrome (Ophthalmoplegia-Cerebellar Ataxia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Lesion of superior cerebellar peduncle, red nucleus, and emerging oculomotor fibers, such as pineal tumor, or tumor or va [...]
Microphthalmos, pigmentary retinopathy, glaucoma
Microphthalmos, Pigmentary Retinopathy, Glaucoma                                                                         General: Autosomal dominant; three disorders combined. Ocular: Microphthalmos; pigmentary retinopathy; glaucoma. C [...]
Ophthalmoplegic migraine syndrome
Ophthalmoplegic Migraine Syndrome                                                                                                    General: Symptoms produced by ipsilateral herniation of hippocampal gyrus of temporal lobe through incisura [...]
Hypothermal injury (cryoinjury; frostbite)
Hypothermal Injury (Cryoinjury; Frostbite)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Loss of body heat to the point of local cold injury or freezing of tissue. Ocular: Localized cryo [...]
Ectopia lentis with ectopia of pupil (ectopia lentis et pupillae) 398
Ectopia Lentis with Ectopia of Pupil (Ectopia Lentis et Pupillae) [...]
Goodpasture syndrome
Goodpasture Syndrome                                                                                                                           General: Chronic, relapsing pulmonary hemosiderosis, often in association with fatal glomerulonep [...]
Fisher syndrome (ophthalmoplegia ataxia areflexia syndrome; miller-fisher syndrome)
Fisher Syndrome (Ophthalmoplegia Ataxia Areflexia Syndrome; Miller-Fisher Syndrome)            General: Acute idiopathic polyneuritis; prognosis good; complete recovery over several weeks (variant of Guillain-Barrée Syndrome; see Guillain- [...]
Bell palsy (idiopathic facial paralysis) 135
Bell Palsy (Idiopathic Facial Paralysis) [...]
Hla-b27 syndromes 5
HLA-B27 Syndromes                                                                                                                               5 General: HLA system is the major histocompatibility complex (MHC) found on chromosome 6; associ [...]
11q- syndrome
11q- Syndrome                                                                                                                                          General: Chromosome II deletion syndrome. Ocular: Telecanthus/hypertelorism; rarely, [...]
Kaposi disease (kaposi sarcoma; kaposi hemorrhagic sarcoma; multiple idiopathic hemorrhagic sarcoma; kaposi varicelliform eruption)
Kaposi Disease (Kaposi Sarcoma; Kaposi Hemorrhagic Sarcoma; Multiple Idiopathic Hemorrhagic Sarcoma; Kaposi Varicelliform Eruption)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Multiple evanescent white-dot syndrome (mewds)
Multiple Evanescent White-Dot Syndrome (MEWDS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Unilateral disease including multiple white dots at the level of the pigment epithelium; etiology unknown; recur [...]
Computer user syndrome 272
Computer User Syndrome [...]
Aceruloplasminemia
Aceruloplasminemia                                                                                                                                       General: Autosomal recessive, adult-onset Ocular: Maculopathy which resembles aging m [...]
Microcephaly with chorioretinopathy
Microcephaly with Chorioretinopathy                                                                                                    General: Autosomal dominant; congenital infection; exposure to irradiation, chemical agents, mother's inf [...]
Congenital heart disease 281
Congenital Heart Disease &nbs [...]
Double whammy syndrome (voluntary propulsion of the eyes) 382
Double Whammy Syndrome (Voluntary Propulsion of the Eyes) &n [...]
Marshall (re) syndrome 7
Marshall (RE) Syndrome                                                                                                                         7 General: Present from birth; etiology unknown; death usually from pneumonia before age 20 months [...]
Kinsbourine syndrome (dancing eyes syndrome; opsoclonus-myoclonus syndrome) 6
Kinsbourine Syndrome (Dancing Eyes Syndrome; Opsoclonus-Myoclonus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Etiology unknown; occurs in infancy and early childhood; myoclonic encephalopathy; has been reported as the only manifestation of a pos [...]
Mercury poisoning (minamata syndrome) 7
Mercury Poisoning (Minamata Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Both sexes affected; onset several weeks or months after ingestion of fish from contaminated water or [...]
Elschnig syndrome (elschnig syndrome ii)
Elschnig Syndrome (Elschnig Syndrome II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Present from birth; etiology unknown. Ocular: Elongation of lid fissure with downward displaceme [...]
Achard syndrome
Achard Syndrome                                                                                                                                           General: All features of Marfan syndrome, with the addition of dysostosis mandibulofac [...]
Waldenström syndrome (macroglobulinemia) 1
Waldenström Syndrome (Macroglobulinemia)                                                                                    1 General: Occurs mainly in males over age 50 years; chromosomal abnormalities were reported, with most of the cells [...]
Pemphigus vulgaris
Pemphigus Vulgaris                                                                                                                                  General: Primarily in middle-aged people; prognosis varies, from poor to chronic; generalize [...]
Niemann-pick syndrome (essential lipoid histiocytosis; sea-blue histiocytosis; sphingomyelinase deficiency) 8
Niemann-Pick Syndrome (Essential Lipoid Histiocytosis; Sea-Blue Histiocytosis; Sphingomyelinase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Pseudomonas aeruginosa infections
Pseudomonas Aeruginosa Infections                                                                                                     General: Gram-negative rod with secondary contaminant of superficial wounds; Pseudomonas organisms produce [...]
Cerebral cholesterinosis (cerebrotendinous xanthomatosis; ctx) 223
Cerebral Cholesterinosis (Cerebrotendinous Xanthomatosis; CTX) & [...]
Acinetobacter (mima polymorpha; acinetobacter iwoffi)
Acinetobacter (Mima Polymorpha; Acinetobacter Iwoffi) General: Gram-negative pleomorphic bacillus Mima; generally occurs in patient with lowered resistance. Ocular: Conjunctivitis and chemosis; corneal ulcer; blepharitis; iris prolapse; [...]
Cryptophthalmia syndrome (cryptophthalmos syndactyly syndrome; fraser syndrome) 332
Cryptophthalmia Syndrome (Cryptophthalmos Syndactyly Syndrome; Fraser Syndrome) 332 General: Autosomal recessive. Ocular: Microphthalmia; epibulbar d [...]
Stevens-johnson syndrome (dermatostomatitis; erythema multiforme exudativum; syndroma mucocutaneo-oculare; baader dermatostomatitis syndrome; mucosal-respiratory syndrome; fuchs [2] syndrome; mucocutaneous ocular syndrome)
Stevens-Johnson Syndrome (Dermatostomatitis; Erythema Multiforme Exudativum; Syndroma Mucocutaneo-Oculare; Baader Dermatostomatitis Syndrome; Mucosal-Respiratory Syndrome; Fuchs [2] Syndrome; Mucocutaneous Ocular Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Sphenocavernous syndrome 1
Sphenocavernous Syndrome                                                                                                                  1 General: Lesion in the cavernous sinus; similar to the superior orbital fissure syndrome (Rochon-Duvi [...]
Malaria
Malaria                                                                                                                                                       General: Caused by Plasmodium, which is transmitted by mosquito bite, blood transf [...]
Devic syndrome (ophthalmoencephalomyelopathy; optic myelitis; neuromyelitis optica) 363
Devic Syndrome (Ophthalmoencephalomyelopathy; Optic Myelitis; Neuromyelitis Optica) 363 General: Etiology unknown; frequent between the ages of 20 and 50 [...]
Crouzon syndrome (dysostosis craniofacialis; oxycephaly; craniofacial dysostosis; parrot-head syndrome; möbius-crouzon syndrome; hereditary craniofacial dysostosis) 327
Crouzon Syndrome (Dysostosis Craniofacialis; Oxycephaly; Craniofacial Dysostosis; Parrot-Head Syndrome; Möbius-Crouzon Syndrome; Hereditary Craniofacial Dysostosis) &nbs [...]
Leroy syndrome
Leroy Syndrome                                                                                                                                       General: Possible mild increase in mucopolysaccharide excretion. Ocular: Nasal epicanthic [...]
Posner-schlossman syndrome (glaucomatocyclitic crisis)
Posner-Schlossman Syndrome (Glaucomatocyclitic Crisis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: High intraocular tension lasting from hours to several weeks and recurring at varying frequencies; low-grade, int [...]
Neonatal hemolytic disease of hyperbilirubinemia (kernicterus; bilirubin encephalopathy)
Neonatal Hemolytic Disease of Hyperbilirubinemia (Kernicterus; Bilirubin Encephalopathy)Â Â Â Â Â Â Â Â General: Condition with severe neural symptoms associated with high levels of bilirubin in the blood. Ocular: Disturbance of supranuclear ve [...]
Myopathy, mitochondrial, with cataract
Myopathy, Mitochondrial, with Cataract                                                                                               General: Autosomal dominant. Ocular: Early-onset bilateral cataracts; severe ophthalmoplegia; mitochondri [...]
Hypolipidemia syndrome (hooft syndrome)
Hypolipidemia Syndrome (Hooft Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive inheritance; disorder of tryptophan metabolism; normal glycolysis disturbed, which [...]
Ethan syndrome, primary
Ethan Syndrome, Primary                                                                                                                       General: Congenital, esotropia, head turn, and nystagmus coexistent with nystagmus compensation an [...]
N
N Naegeli Syndrome (Melanophoric Nevus Syndrome; Franceschetti-Jadassohn Syndrome; Naegeli Incontinentia Pigmenti; Reticular Pigmented Dermatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autoso [...]
Lichen planus
Lichen us                                                                                                                                            General: Conjunctival disorder associated with dermatologic disorder; disappears sponta [...]
Tristichiasis 1
Tristichiasis                                                                                                                                              1 General: Autosomal dominant. Ocular: Three rows of eyelashes. Clinical: None. [...]
Muscular dystrophy, congenital, with infantile cataract and hypogonadism
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism                                 General: Autosomal recessive; rare; reported in isolated Norwegian village. Ocular: Infantile cataract. Clinical: Ovarian agenesi [...]
Adrenoleukodystrophy (melanodermic leukodystrophy; sudanophilic leukodystrophy)
Adrenoleukodystrophy (Melanodermic Leukodystrophy; Sudanophilic Leukodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Degenerative metabolic disease in which cholesterol with long-chain fatty acids accumulates in affected cells; symptoms usually beg [...]
Prader-willi syndrome (prader-labhart-willi-fanconi syndrome; h20 syndrome; hypogenital dystrophy with diabetic tendency; hypotonia-hypomentia-hypogonadism-obesity [hhho] syndrome; royer syndrome)
Prader-Willi Syndrome (Prader-Labhart-Willi-Fanconi Syndrome; H20 Syndrome; Hypogenital Dystrophy with Diabetic Tendency; Hypotonia-Hypomentia-Hypogonadism-Obesity [HHHO] Â Syndrome; Royer Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Peroneal muscular atrophy (pma; neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway, and autonomic disturbance)
Peroneal Muscular Atrophy (PMA; Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway, and Autonomic Disturbance)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Peroneal muscular atro [...]
Myopathy, mitochondrial, with cataract
Myopathy, Mitochondrial, with Cataract                                                                                               General: Autosomal dominant. Ocular: Early-onset bilateral cataracts; severe ophthalmoplegia; mitochondri [...]
Marquardt-loriaux syndrome (wolfram syndrome; diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; didmoad syndrome) 7
Marquardt-Loriaux Syndrome (Wolfram Syndrome; Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome; DIDMOAD Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Autosomal recessive; pr [...]
Von herrenschwand syndrome (sympathetic heterochromia) 1
Von Herrenschwand Syndrome (Sympathetic Heterochromia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Congenital anomaly; heterochromia with Horner syndrome; sympathetic palsy from cervical ribs, tumor of the thyroid glan [...]
De morsier syndrome (septooptic dysplasia) 356
De Morsier Syndrome (Septooptic Dysplasia) &nbs [...]
Gardner syndrome
Gardner Syndrome                                                                                                                                   General: Autosomal dominant; both sexes affected; average onset age 20 years. Ocular: Exoph [...]
Gradenigro syndrome (temporal syndrome; lannois-gradenigro syndrome)
Gradenigro Syndrome (Temporal Syndrome; Lannois-Gradenigro Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by extradural abscess of the petrous portion of the temporal bone; good prognosis. Ocular: Ipsilateral paralysis (cranial [...]
Bacillus subtilis (hay bacillus)
Bacillus Subtilis (Hay Bacillus) General: Gram-positive rod found in air, soil, dust, water, milk, and hay; frequently seen in people who work near hay. Ocular: Conjunctivitis; ring abscess of cornea; corneal ulcer; endophthalmitis; panop [...]
Moraxella lacunata
Moraxella Lacunata                                                                                                                                  General: Gram-negative rod; causes chronic angular blepharoconjunctivitis; without treatment [...]
Hyperopia, high
Hyperopia, High                                                                                                                                        General: Defect in eyesight in which the focal point falls behind the retina, resulting i [...]
Empty sella syndrome
Empty Sella Syndrome                                                                                                                             General: Further progression of ocular findings and symptoms after treatment of pituitary tumor [...]
Aberfeld syndrome
Aberfeld Syndrome (Schwartz-Jampel Syndrome; CongenitalBlepharophimosis Associated with Generalized Myopathy Syndrome; Ocular and Facial Abnormalities Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology not [...]
Malignant hyperpyrexia syndrome (postcataract hyperpyrexia syndrome; postinduction hyperpyrexia syndrome)
Malignant Hyperpyrexia Syndrome (Postcataract Hyperpyrexia Syndrome; Postinduction Hyperpyrexia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Eti [...]
Raynaud disease (symmetrical gangrene; symmetrical asphyxia)
Raynaud Disease (Symmetrical Gangrene; Symmetrical Asphyxia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Primary, or idiopathic, form of paroxysmal digital cyanosis; possible abnormality of sympathetic nervous system; occurs [...]
Atherosclerosis
Atherosclerosis General: Etiologic importance of lipid infiltration; cholesterol; patchy nodular form of arteriosclerosis. Ocular: Central retinal artery obstruction; branch retinal artery obstruction; most common cause is embolization fr [...]
Anterior chamber cleavage syndrome (reese-ellsworth syndrome; peters-plus syndrome)
Anterior Chamber Cleavage Syndrome (Reese-Ellsworth Syndrome; Peters-Plus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Abnormalities in the embryologic development of the anterior chamber due to failure of normal migration of mesodermal cells across t [...]
Dyschondroplasia syndrome (ollier syndrome; enchondromatosis) 393
Dyschondroplasia Syndrome (Ollier Syndrome; Enchondromatosis) &nbs [...]
Cranial nerves, congenital paresis 308
Cranial Nerves, Congenital Paresis [...]
Multiple pterygium syndrome, lethal type (pterygium, multiple, lethal type)
Multiple Pterygium Syndrome, Lethal Type (Pterygium, Multiple, Lethal Type)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; nonconsanguineous parents; lethal. Ocular: Hypertelorism; epicanthal folds. Clinical: Multiple pter [...]
Acute hemorrhagic conjunctivitis (ahc; epidemic hemorrhagic keratoconjunctivitis)
Acute Hemorrhagic Conjunctivitis (AHC; Epidemic Hemorrhagic Keratoconjunctivitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: First reported in 1969, first epidemic in United States in 1981; enterovirus; explosive onset; usually bilateral; coxsackieviru [...]
Choroideremia (tapetochoroidal dystrophy, progressive; choroidal sclerosis) 241
Choroideremia (Tapetochoroidal Dystrophy, Progressive; Choroidal Sclerosis) [...]
Arterial occlusive retinopathy and encephalopathy syndrome
Arterial Occlusive Retinopathy and Encephalopathy Syndrome                                                               General: Rare; etiology unknown but may be virally induced, immune-mediated disease; most frequent in women; mechanism [...]
Trisomy 9q syndrome 1
Trisomy 9q Syndrome                                                                                                                            1 General: Congenital mental retardation syndrome due to 9p trisomy. Ocular: Hypertelorism; deep [...]
Cryptococcosis (torulosis) 331
Cryptococcosis (Torulosis) &n [...]
Pemphigus foliaceus (cazenave disease)
Pemphigus Foliaceus (Cazenave Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Attacks individuals of any race, age, or sex; high incidence in Brazil; characterized by bullous s [...]
West nile virus infection 1
West Nile Virus Infection                                                                                                                       1 General: Zoonotic disease transmitted by a mosquito vector with wild birds serving as its reser [...]
Shamberg disease 1
Shamberg Disease                                                                                                                                   1 General: Common benign skin disorder; self-limiting cutaneous vasculitis. Ocular: Discrete [...]
Ackerman syndrome
Ackerman Syndrome                                                                                                                                      General: Autosomal recessive; characterized by pyramidal molar roots. Ocular: Juvenile [...]
Autoimmune corneal endotheliopathy
Autoimmune Corneal Endotheliopathy General: Etiology unknown; associated with imtation of an intraocular lens (IOL), pars itis, iritis, secondary herpetic keratitis, and corticosteroid use; rare. Ocular: Stromal edema; migrating line of k [...]
Poland-möbius syndrome
Poland-Möbius Syndrome                                                                                                                      General: Rare congenital disorder that is a combination of Möbius syndrome and Poland anomaly; has b [...]
Trisomy 6q syndrome (duplication 6q+6q syndrome)
Trisomy 6q Syndrome (Duplication 6q+6q Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 6q trisomy syndrome. Ocular: Hypertelorism; mongoloid (down-slanting) palpebral fissures. Clinic [...]
Bruch membrane drusen 179
Bruch Membrane Drusen & [...]
Thygeson syndrome (keratitis superficialis punctata) 1
Thygeson Syndrome (Keratitis Superficialis Punctata)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology probably of viral origin; recurrence every 3 to 4 years. Ocular: Punctate lesions of cornea; ker [...]
Mumps
Mumps                                                                                                                                                       General: Viral infection. Ocular: Conjunctivitis; keratitis; corneal ulcer; tenoni [...]
Coats disease (leber miliary aneurysm; retinal telangiectasia) 257
Coats Disease (Leber Miliary Aneurysm; Retinal Telangiectasia) &nb [...]
Optic atrophy, cataract, and neurologic disorder
Optic Atrophy, Cataract, and Neurologic Disorder                                                                              General: Autosomal dominant; similar to syndromes of Behr, Marinesco, Sjögren, and Friedreich, which are autosomal [...]
Maroteaux-lamy syndrome (systemic mucopolysaccharidosis type vi; mps vi syndrome; mucopolysaccharidosis vi) 7
Maroteaux-Lamy Syndrome (Systemic Mucopolysaccharidosis Type VI; MPS VI Syndrome; Mucopolysaccharidosis VI)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Onset [...]
Escherichia coli
Escherichia Coli                                                                                                                                        General: Gram-negative rod found in the gastrointestinal tract; urinary tract is the usu [...]
Gangliosidosis gmi type 1 (generalized gangliosidosis [infantile]; norman-landing syndrome; pseudo-hurler lipoidosis) 4
Gangliosidosis GMI Type 1 (Generalized Gangliosidosis [Infantile]; Norman-Landing Syndrome; Pseudo-Hurler Lipoidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Torre syndrome
Torre Syndrome                                                                                                                                      General: Multiple sebaceous gland tumors of nonglabrous skin and visceral malignancy (primar [...]
Pallister-killian syndrome (pks; mosaic tetrasomy)
Pallister-Killian Syndrome (PKS; Mosaic Tetrasomy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Variable condition caused by a mosaic tetrasomy of chromosome 12p. Ocular: Reported manifestations includ [...]
Myotonic dystrophy syndrome (myotonia atrophica syndrome; dystrophia myotonica; curschmann-steinert syndrome)
Myotonic Dystrophy Syndrome (Myotonia Atrophica Syndrome; Dystrophia Myotonica; Curschmann-Steinert Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare autosom [...]
B-k mole syndrome (familial atypical multiple mole melanoma syndrome; dns; dysplastic nevus syndrome) 149
B-K Mole Syndrome (Familial Atypical Multiple Mole Melanoma Syndrome; DNS; Dysplastic Nevus Syndrome) &nbs [...]
Ml ii (i-cell disease; mucolipidosis ii)
ML II (I-Cell Disease; Mucolipidosis II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive mucolipidosis is a Hurler-like disorder with some radiologic features, st [...]
Sleep apnea (obstructive sleep apnea) 1
Sleep Apnea (Obstructive Sleep Apnea)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Interruption of normal breathing during sleep secondary to airway obstruction; life threatening. [...]
Diencephalic syndrome (diencephalic epilepsy syndrome; autonomic epilepsy syndrome; penfield syndrome; anterior diencephalic autonomic epilepsy syndrome) 367
Diencephalic Syndrome (Diencephalic Epilepsy Syndrome; Autonomic Epilepsy Syndrome; Penfield Syndrome; Anterior Diencephalic Autonomic Epilepsy Syndrome) &nb [...]
Vitreocorneal touch syndrome 1
Vitreocorneal Touch Syndrome                                                                                                            1 General: After cataract extraction, vitreous bulges through the pupillary space, coming in contact with [...]
Xxxxx syndrome (penta x syndrome) 1
XXXXX Syndrome (penta X Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Congenital syndrome due to aneuploidy. Ocular: Epicanthal folds; hypertelorism; antimongoloid (upward [...]
Pancreatitis
Pancreatitis                                                                                                                                                General: Inflammation of pancreas. Ocular: Xerosis; night blindness; multiple bran [...]
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness                                            General: Autosomal dominant; onset early adulthood of severe osteoarthritis of hips; deficiency of distal tibial ossification se [...]
Kussmaul disease (kussmaul-maier disease; necrotizing angiitis; pan; periarteritis nodosa; polyarteritis nodosa)
Kussmaul Disease (Kussmaul-Maier Disease; Necrotizing Angiitis; PAN; Periarteritis Nodosa; Polyarteritis Nodosa)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Car syndrome (cancer-associated retinopathy syndrome) 196
CAR Syndrome (Cancer-Associated Retinopathy Syndrome) [...]
Retinoblastoma
Retinoblastoma                                                                                                                                        General: Malignant tumor arising in one or both retinas of young children, usually under t [...]
Nystagmus, primary hereditary (congenital nystagmus) 8
Nystagmus, Primary Hereditary (Congenital Nystagmus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Autosomal recessive, sex-linked or irregular dominant; may be associated with albinism. Ocular: Horizontal [...]
Nicolau syndrome (nicolau-hoigne syndrome) 8
Nicolau Syndrome (Nicolau-Hoigne Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: First described as a nonallergic reaction following injection of bismuth; assumed to be caused by emboli [...]
Acquired lues (syphilis; acquired syphilis; lues venerea; malum venereum)
Acquired Lues (Syphilis; Acquired Syphilis; Lues Venerea; Malum Venereum) General: Causative agent, Treponema pallidum, usually transmitted sexually. Ocular: Conjunctival chancroid; conjunctivitis; keratitis; blepharitis; ptosis; iris at [...]
Achoo syndrome
ACHOO Syndrome (Autosomal Dominant Compelling Helio-Ophthalmic Outburst Syndrome; Â Photic Sneeze Reflex; Sneezing from Light Exposure; Peroutka Sneeze)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autoso [...]
Oguchi disease
Oguchi Disease                                                                                                                                          General: Autosomal recessive; usually Japanese; form of congenital hemeralopia; one form [...]
Mucocele (pyocele)
Mucocele (Pyocele)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Accumulation and retention of mucoid material within the sinus as a result of con [...]
Tuomaala-haapanen syndrome
Tuomaala-Haapanen Syndrome                                                                                                            General: Unknown etiology; features similar to pseudohypoparathyroidism. Ocular: Antimongoloid lid fissu [...]
Schaumann syndrome (besnier-boeck-schaumann syndrome; boeck sarcoid; sarcoidosis) 1
Schaumann Syndrome (Besnier-Boeck-Schaumann Syndrome; Boeck Sarcoid; Sarcoidosis)Â Â Â Â Â Â Â 1 General: Etiology unknown; theories include tuberculosis, hypersensitivity to pine pollen, virus infection; affects blacks most often; chronic course [...]
Mulvihill-smith syndrome
Mulvihill-Smith Syndrome                                                                                                                       General: Progeroid disorder. Ocular: Keratoconus; conjunctivitis. Clinical: Patients have sh [...]
Dental-ocular-cutaneous syndrome 358
Dental-Ocular-Cutaneous Syndrome &n [...]
Ophthalmoplegia, familial static
Ophthalmoplegia, Familial Static                                                                                                             General: Autosomal dominant; forms include internal, external, and total ophthalmoplegia. Ocular [...]
Herpes zoster
Herpes Zoster                                                                                                                                            General: Caused by varicella zoster virus; about 75% of cases occur in persons over age [...]
Sylvester disease 1
Sylvester Disease                                                                                                                                     1 General: Dominant inheritance. Ocular: Optic atrophy. Clinical: Ataxia; moderate and [...]
Roussy-cornil syndrome 1
Roussy-Cornil Syndrome                                                                                                                       1 General: Etiology unknown; sporadic hypertrophic neuropathy; onset in second to third decade of [...]
Masquerade syndrome
Masquerade Syndrome                                                                                                                            General: Chronic blepharoconjunctivitis due to an underlying conjunctival carcinoma. Ocular: S [...]
Ulcerative colitis (regional enteritis; inflammatory bowel disease) 1
Ulcerative Colitis (Regional Enteritis; Inflammatory Bowel Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Chronic inflammatory disease of unknown etiology; both sexes affected; onset at all ages, most frequently between [...]
Demodicosis 355
Demodicosis [...]
Hyperammonemia i (carbamyl phosphate synthetase deficiency; hyperammonemia ii; ornithine transcarbamylase deficiency; hyperammonemia-hyperornithinemia-homocitrullinuria syndrome)
Hyperammonemia I (Carbamyl Phosphate Synthetase Deficiency; Hyperammonemia II; Ornithine Transcarbamylase Deficiency; Hyperammonemia-Hyperornithinemia-Homocitrullinuria Syndrome) General: Hyperammonemias I and II are due to errors at or n [...]
Acute frosted retinal periphlebitis
Acute Frosted Retinal Periphlebitis                                                                                                               General: Etiology unknown, virus suspected; involvement of veins and arteries; veins more seve [...]
Leber tapetoretinal dystrophy syndrome (amaurosis congenita; retinal aplasia; retinal abiotrophy; pigmentary retinitis with congenital amaurosis; dysgenesis neuroepithelialis retinae; alstrom-olsen syndrome)
Leber Tapetoretinal Dystrophy Syndrome (Amaurosis Congenita; Retinal Aplasia; Retinal Abiotrophy; Pigmentary Retinitis with Congenital Amaurosis; Dysgenesis Neuroepithelialis Retinae; Alstrom-Olsen Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Fanconi-turler syndrome (familial ataxic diplegia; ataxic diplegia)
Fanconi-Turler Syndrome (Familial Ataxic Diplegia; Ataxic Diplegia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Aberration of the third cranial nerve (supranuclear type); ataxic diplegia is cerebellar ataxia with spastic pareses [...]
Francois syndrome (2) (dystrophia dermachondrocornealis familiaris) 4
Francois Syndrome (2) (Dystrophia Dermachondrocornealis Familiaris)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Autosomal recessive. Ocular: Central superficial corneal dystrophy with subepithelial opacities. Clinical: Distal [...]
Hypertrophic cardiomyopathy syndrome
Hypertrophic Cardiomyopathy Syndrome                                                                                             General: Autosomal recessive; four major findings are congenital cataracts, hypertrophic cardiomyopathy, mitoch [...]
Congenital lues (congenital syphilis) 283
Congenital Lues (Congenital Syphilis) &nb [...]
Cockayne syndrome (dwarfism with retinal atrophy and deafness; mickey mouse syndrome) 260
Cockayne Syndrome (Dwarfism with Retinal Atrophy and Deafness; Mickey Mouse Syndrome) 260 General: Autosomal recessive; onset in second year of life; wide spectrum of symptoms and severity of the disease suggest that [...]
Brain dysfunction syndrome (dyscontrol syndrome) 170
Brain Dysfunction Syndrome (Dyscontrol Syndrome) &nbs [...]
Gyrate atrophy (ornithine ketoacid aminotransferase deficiency)
Gyrate Atrophy (Ornithine Ketoacid Aminotransferase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Deficiency of the enzyme ornithine aminotransferase; autosomal recessive; chronic, progressive dystrophy; responsible [...]
Iris nevus syndrome (cogan-reese syndrome; chandler syndrome; iridocorneal endothelial syndrome; ice syndrome)
Iris Nevus Syndrome (Cogan-Reese Syndrome; Chandler Syndrome; Iridocorneal Endothelial Syndrome; ICE Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Us [...]
Nematode ophthalmia syndrome (visceral larva migrans syndrome; toxocariasis)
Nematode Ophthalmia Syndrome (Visceral Larva Migrans Syndrome; Toxocariasis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Usually found in children; invasion by larvae of Toxocara canis and Toxocara cati of viscera and eyes; pronounced eosinophilia; as ma [...]
Louping iii syndrome
Louping III Syndrome                                                                                                                              General: Tick-borne disease of sheep; occurs in Britain. Ocular: Difficulty in blinking; ret [...]
Ivic syndrome (radial ray defects, hearing impairment, internal ophthalmoplegia, thrombocytopenia)
IVIC Syndrome (Radial Ray Defects, Hearing Impairment, Internal Ophthalmoplegia, Thrombocytopenia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: A [...]
Rocky mountain spotted fever 1
Rocky Mountain Spotted Fever                                                                                                             1 General: Acute systemic disease caused by Rickettsia rickettsii transmitted by a wood tick or dog tick [...]
Newcastle disease (fowlpox) 8
Newcastle Disease (Fowlpox)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Acquired directly by people handling chickens (see Parinaud Oculoglandular Syndrome); se [...]
Comedo cataract 271
Comedo Cataract & [...]
Costen syndrome (temporomandibular joint syndrome) 306
Costen Syndrome (Temporomandibular Joint Syndrome) &n [...]
Spider bites
Spider Bites                                                                                                                                              General: Venom of several different spiders can cause systemic poisoning in humans. [...]
Trisomy 10q syndrome (10q+ syndrome)
Trisomy 10q Syndrome (10q+ Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 10q trisomy (duplication) syndrome. Ocular: Microphthalmia; deep-set eyes; epicanthus; bil [...]
Franceschetti disease (fundus flavimaculatus) 4
Franceschetti Disease (Fundus Flavimaculatus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Affects both sexes; onset between ages 10 and 25 years; autosomal recessive; genetic linkage analysi [...]
Craniocervical syndrome (whiplash injury) 310
Craniocervical Syndrome (Whiplash Injury) [...]
Grayson-wilbrandt syndrome (reis-buecklers syndrome; corneal dystrophy of reis-buecklers)
Grayson-Wilbrandt Syndrome (Reis-Buecklers Syndrome; Corneal Dystrophy of Reis-Buecklers) General: Onset at end of first decade; infrequent episodes of eye redness and pain; autosomal dominant trait; electron microscopy reveals peculiar cur [...]
Sanfilippo-good syndrome (heparitinuria; mucopolysaccharidosis iii; mps iii) 1
Sanfilippo-Good Syndrome (Heparitinuria; Mucopolysaccharidosis III; MPS III)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal recessive; excess urinary excretion of heparitin sulfate (see Hunter Syndrome; Hurler Syndrome; Maroteaux-Lamy Syndrom [...]
Chickenpox (varicella) 236
Chickenpox (Varicella) [...]
Cataract, crystalline aculeiform or frosted 207
Cataract, Crystalline Aculeiform or Frosted &nb [...]
Retinal arteries, tortuosity
Retinal Arteries, Tortuosity                                                                                                                   General: Autosomal dominant; retinal vascular tortuosity is the isolated physical finding but may [...]
Renal failure
Renal Failure                                                                                                                                           General: Absence of renal function. Ocular: Cotton-wool spots; retinal edema; optic di [...]
Congenital epiblepharon inferior oblique insufficiency syndrome 280
Congenital Epiblepharon Inferior Oblique Insufficiency Syndrome &n [...]
Krabbe (2) syndrome (sturge-weber-krabbe syndrome; galactocerebrosidase deficiency) 6
Krabbe (2) Syndrome (Sturge-Weber-Krabbe Syndrome; Galactocerebrosidase Deficiency)Â Â Â Â Â Â Â Â Â 6 General: Etiology unknown; some evidence of irregularly dominant transmission; variant of Sturge-Weber syndrome; both sexes affected; present from [...]
Pinta (nonvenereal treponematosis) 9
Pinta (Nonvenereal Treponematosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Caused by spirochete Treponema carateum; infectious; contagious; found in Mexico, Central Amer [...]
Anton syndrome (denial-visual hallucination syndrome)
Anton Syndrome (Denial-Visual Hallucination Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Cause unknown, but isolation of diencephalon from occipital lobe would be necessary to result in the featu [...]
Acl syndrome (acromegaloid, cutis verticis gyrata, corneal leukoma syndrome)
ACL Syndrome (Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome) General: Autosomal dominant; rare; three features include cutis verticis, associated with acromegaly and corneal leukoma; onset by age I year. Ocular: Bilateral [...]
Von gierke disease (glycogen storage disease type i; glycogenosis type i; glucose-6- phosphatase deficiency) 1
Von Gierke Disease (Glycogen Storage Disease Type I; Glycogenosis Type I; Glucose-6- Phosphatase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: [...]
Merrf syndrome 7
MERRF Syndrome                                                                                                                                   7 General: Associated with mitochondrial tRNA [Leu(UUR)] A3243G mutation. Ocular: Optic neurop [...]
Niemann-pick syndrome (essential lipoid histiocytosis; sea-blue histiocytosis; sphingomyelinase deficiency) 8
Niemann-Pick Syndrome (Essential Lipoid Histiocytosis; Sea-Blue Histiocytosis; Sphingomyelinase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Hypovitaminosis a (xerophthalmia)
Hypovitaminosis A (Xerophthalmia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Deficient serum levels of vitamin A; principal cause of infantile blindness in the world; due t [...]
Lateral sinus thrombosis (sigmoid sinus thrombosis)
Lateral Sinus Thrombosis (Sigmoid Sinus Thrombosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Predominant in children; acute onset secondary to chronic otitic infections; high mortality rate without trea [...]
Metastatic fungal endophthalmitis
Metastatic Fungal Endophthalmitis                                                                                                        General: Usually occurs in immunosuppressed or immunocompromised patients; usually asymmetrical; Candid [...]
Orf syndrome (ecthyma infectiosum)
ORF Syndrome (Ecthyma Infectiosum)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Infectious disease; transmitted between animals; worldwide distribution; human infection from sheep. [...]
Myxomas, spotty pigmentation, and endocrine overactivity syndrome (name syndrome)
Myxomas, Spotty Pigmentation, and Endocrine Overactivity Syndrome (NAME Syndrome)Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Eyelid myxomas; pigmented lesions of the caruncle or conjunctival semilunar fold. Clinical: Cardiac, cutan [...]
Hypogonadism-cataract syndrome
Hypogonadism-Cataract Syndrome                                                                                                        General: Autosomal recessive. Ocular: Cataracts. Clinical: Elevated follicle-stimulating hormone leve [...]
Bourneville syndrome (bourneville-pringle syndrome; tuberous sclerosis; epiloia) 166
Bourneville Syndrome (Bourneville-Pringle Syndrome; Tuberous Sclerosis; Epiloia) 166 [...]
Charcot-wilbrand syndrome 231
Charcot-Wilbrand Syndrome &nb [...]
Arteriosclerosis
Arteriosclerosis General: Thickening and induration of the arterial wall; prominent in the elderly. Ocular: Increased arterial light reflex, copper/silver wire arteries; arteriovenous crossing changes; arterial caliber variation/irregular [...]
Whipple disease (intestinal lipodystrophy)
Whipple Disease (Intestinal Lipodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Multisystem disorder; prominent in males; onset between fourth and seventh decades; etiology unknow [...]
Petzetakis-takos syndrome (phlyctenular keratoconjunctivitis)
Petzetakis-Takos Syndrome (Phlyctenular Keratoconjunctivitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Malnutrition; lack of hygiene. Ocular: Superficial keratitis; palpebral edema; cornea hyperesthesia; photophobi [...]
Foveal hypoplasia and presenile cataract syndrome (o'donnell-pappas syndrome) 4
Foveal Hypoplasia and Presenile Cataract Syndrome (O'Donnell-Pappas Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Autosomal dominant. Ocular: Foveal hypoplasia; nystagmus; presenile cataract; peripheral corneal pannus. Clinical: None. [...]
Hereditary ectodermal dysplasia syndrome (siemens syndrome; keratosis follicularis spinulosa syndrome; hypohidrotic ectodermal dysplasia; christ-siemens-touraine syndrome; weech syndrome; anhidrotic ectodermal dysplasia; ichthyosis follicularis) 5
Hereditary Ectodermal Dysplasia Syndrome (Siemens Syndrome; Keratosis Follicularis Spinulosa Syndrome; Hypohidrotic Ectodermal Dysplasia; Christ-Siemens-Touraine Syndrome; Weech Syndrome; Anhidrotic Ectodermal Dysplasia; Ichthyosis Follicularis)Â [...]
Heerfordt syndrome (uveoparotid fever; uveoparotitis; uveoparotitic paralysis) 5
Heerfordt Syndrome (Uveoparotid Fever; Uveoparotitis; Uveoparotitic Paralysis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Occurs in young adults, more frequently in females than in males; usual cause is sarcoidosis. Ocular: Band keratopathy; [...]
Corneal dystrophy, lattice type (lattice corneal dystrophy; lcd; lattice dystrophy type i; biber-haab-dimmer dystrophy) 299
Corneal Dystrophy, Lattice Type (Lattice Corneal Dystrophy; LCD; Lattice Dystrophy Type I; Biber-Haab-Dimmer Dystrophy) [...]
Cushing (3) syndrome (chiasmal syndrome) 337
Cushing (3) Syndrome (Chiasmal Syndrome) [...]
Transient light sensitivity syndrome 1
Transient Light Sensitivity Syndrome                                                                                                   1 General: Associated with femtosecond laser keratome; may be related to the pulse energy used in flap cre [...]
Spongy degeneration of the white matter (canavan disease; van bogaert-bertrand syndrome)
Spongy Degeneration of the White Matter (Canavan Disease; Van Bogaert-Bertrand Syndrome) General: Neurologic disorder of childhood; Jews; familial; autosomal recessive; this is a severe leukodystrophy caused by the deficiency of aspartoacyl [...]
18q- syndrome (18q deletion syndrome)
18q- Syndrome (18q Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 18q deletion syndrome. Ocular: Macular 'fibrosis'; Optic disk abnormalities with tract [...]
Falciform detachment
Falciform Detachment                                                                                                                              General: Autosomal dominant or recessive; preperinatally acquired; characterized by ocular sig [...]
Nothnagel syndrome (ophthalmoplegia-cerebellar ataxia syndrome) 8
Nothnagel Syndrome (Ophthalmoplegia-Cerebellar Ataxia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Lesion of superior cerebellar peduncle, red nucleus, and emerging oculomotor fibers, such as pineal tumor, or tumor or va [...]
Nephrotic syndrome (lipoid nephrosis; idiopathic nephrotic syndrome; epstein syndrome)
Nephrotic Syndrome (Lipoid Nephrosis; Idiopathic Nephrotic Syndrome; Epstein Syndrome)Â Â Â Â Â Â General: Unknown etiology, although some connection seems to exist between use of various drugs (penicillamine, heavy metals, trimethadione) and ce [...]
Nystagmus blockage syndrome (nbs) 8
Nystagmus Blockage Syndrome (NBS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome Secondary; Nystagmus Compensation Syndrome [...]
Zinsser-engman-cole syndrome (dyskeratosis congenita with pigmentation; cole-rauschkolb- toomey syndrome)
Zinsser-Engman-Cole Syndrome (Dyskeratosis Congenita with Pigmentation; Cole-Rauschkolb- Toomey Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gener [...]
Dejerine-klumpke syndrome (lower radicular syndrome; klumpke syndrome; klumpke paralysis) 351
Dejerine-Klumpke Syndrome (Lower Radicular Syndrome; Klumpke Syndrome; Klumpke Paralysis) 351 General: Lesion involving the inferior roots of the brachial plexus with nerves derived from the ei [...]
Sands of the sahara syndrome (diffuse lamellar keratitis) 1
Sands of the Sahara Syndrome (Diffuse Lamellar Keratitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Interface inflammation after laser in situ keratomileusis (LASIK). Ocular: Interface inflammation after LASI [...]
Pseudophakic pigment dispersion syndrome
Pseudophakic Pigment Dispersion Syndrome                                                                                      General: Caused by rubbing of peripheral iris on lens zonules with iris e and posterior chamber lenses. Ocular: [...]
Pemphigus vulgaris
Pemphigus Vulgaris                                                                                                                                  General: Primarily in middle-aged people; prognosis varies, from poor to chronic; generalize [...]
Ophthalmoplegic retinal degeneration syndrome (barnard-scholz syndrome)
Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Onset at all ages (see Kearns-Sayre Syndrome). Ocular: Unilateral or bilateral progressive weakness of muscles of eyelids, u [...]
Koby syndrome (floriform cataract) 6
Koby Syndrome (Floriform Cataract)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal dominant; both sexes affected. Ocular: Multiple opacities of different shapes (annul [...]
Oral-facial-digital syndrome (ofds)
Oral-Facial-Digital Syndrome (OFDS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Group of syndromes characterized by congenital anomalies of the oral cavity, face, and digits; s [...]
Shy-drager syndrome (orthostatic hypotension syndrome; shy-megee-drager syndrome) 1
Shy-Drager Syndrome (Orthostatic Hypotension Syndrome; Shy-MeGee-Drager Syndrome)Â Â Â Â Â Â 1 General: Etiology unknown; gradual onset; adults; progressive degeneration of the nervous system. Ocular: External ophthalmoplegia; iris atrophy; oc [...]
Papilloma (wart; verruca)
Papilloma (Wart; Verruca)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Cutaneous or mucosal tumor of proliferating epithelial and fibrovascular tissues; viral [...]
Plateau iris syndrome 9
Plateau Iris Syndrome                                                                                                                              9 General: Rare; occurs in younger age group; presumably due in part to an anterior insertion [...]
Lymphoid hyperplasia (reactive lymphoid hyperplasia; lymphoid tumors; malignant lymphoma; pseudolymphoma; pseudotumor; burkitt lymphoma; neoplastic angioendotheliomatosis)
Lymphoid Hyperplasia (Reactive Lymphoid Hyperplasia; Lymphoid Tumors; Malignant Lymphoma; Pseudolymphoma; Pseudotumor; Burkitt Lymphoma; Neoplastic Angioendotheliomatosis)Â Â Â Â Â Â Â Â Â Â Â General: Occurs in tropical Africa; young children; idio [...]
Aniridia, partial with unilateral renal agenesis and psychomotor retardation
Aniridia, Partial with Unilateral Renal Agenesis and Psychomotor Retardation General: Autosomal recessive. Ocular: Congenital glaucoma; telecanthus; absence of iris; hypertelorism. Clinical: One kidney absent or in failure; motor effect [...]
Pemphigus foliaceus (cazenave disease)
Pemphigus Foliaceus (Cazenave Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Attacks individuals of any race, age, or sex; high incidence in Brazil; characterized by bullous s [...]
Caffey syndrome (caffey-silverman syndrome; infantile cortical hyperostosis) 185
Caffey Syndrome (Caffey-Silverman Syndrome; Infantile Cortical Hyperostosis) [...]
Colobomatous, microphthalmia and microcornea syndrome 268
Colobomatous, Microphthalmia and Microcornea Syndrome [...]
Thomsen syndrome (congenital myotonia syndrome; myotonia congenita)
Thomsen Syndrome (Congenital Myotonia Syndrome; Myotonia Congenita)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Dominant; inheritance manifestations before age 5 years; prevalent in males; possibly caused by excessive production of acetylchol [...]
Xeroderma pigmentosum
Xeroderma Pigmentosum                                                                                                                       General: Rare autosomal recessive disorder characterized by extreme cutaneous photosensitivity; both [...]
Dermatophytosis (epidermophytosis; epidermomycosis; rubrophytia; tinea; trichophytosis) 360
Dermatophytosis (Epidermophytosis; Epidermomycosis; Rubrophytia; Tinea; Trichophytosis) 360 General: Superficial infection of the skin; ringworm fungi; most frequently seen in children during hot, hu [...]
Cysticercosis 340
Cysticercosis &nb [...]
Hypocalcemia
Hypocalcemia                                                                                                                                            General: Serum calcium level depressed; secondary hypocalcemia can result following fosc [...]
Optic atrophy, non-leber-type, with early onset
Optic Atrophy, Non-Leber-Type, with Early Onset                                                                              General: Sex-linked; onset early in life. Ocular: Optic atrophy. Clinical: Mental retardation; hyperactive kne [...]
Atopic dermatitis (atopic eczema; besnier prurigo)
Atopic Dermatitis (Atopic Eczema; Besnier Prurigo) General: Highly specific disease resulting from a heredity determined lowered cutaneous threshold to pruritus and characterized by intense itching; elevated total and specific immunoglobulin [...]
Benign mucosal pemphigoid (chronic cicatricial conjunctivitis; cicatricial pemphigoid; essential shrinkage of the conjunctiva; membrane pemphigus; ocularpemphigoid) 137
Benign Mucosal Pemphigoid (Chronic Cicatricial Conjunctivitis; Cicatricial Pemphigoid; Essential Shrinkage of the Conjunctiva; Membrane Pemphigus; Ocularpemphigoid) [...]
Gansslen syndrome (familial hemolytic icterus; hematologic-metabolic bone disorder)
Gansslen Syndrome (Familial Hemolytic Icterus; Hematologic-Metabolic Bone Disorder)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant inheritance; occurs mainly in Caucasians. Ocular: Hypertelorism; microphthalmos; epicanthus; narrowing of palpe [...]
Neonatal hemolytic disease of hyperbilirubinemia (kernicterus; bilirubin encephalopathy)
Neonatal Hemolytic Disease of Hyperbilirubinemia (Kernicterus; Bilirubin Encephalopathy)Â Â Â Â Â Â Â Â General: Condition with severe neural symptoms associated with high levels of bilirubin in the blood. Ocular: Disturbance of supranuclear ve [...]
Mycosis fungoides syndrome (sézary syndrome; malignant cutaneous reticulosis syndrome)
Mycosis Fungoides Syndrome (Sézary Syndrome; Malignant Cutaneous Reticulosis Syndrome)    General: Lymphoma characterized by abnormal lymphocytes having hyperchromatic, hyperconvoluted nuclei; malignant, cutaneous T-cell lymphoma, which in [...]
Porphyria cutanea tarda
Porphyria Cutanea Tarda                                                                                                                     General: Disorder of porphyria metabolism; highest incidence in Bantu population; both sexes affecte [...]
Espildora-luque syndrome (ophthalmic sylvian syndrome)
Espildora-Luque Syndrome (Ophthalmic Sylvian Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Embolism of the ophthalmic artery with refectory spasm of the middle cerebral artery. Ocular: Unilateral blindnes [...]
Hemangioma 5
Hemangioma                                                                                                                                              5 General: Can occur throughout the body, but particularly in the head; primary intraosseo [...]
Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism                                        General: Autosomal recessive; similar to Laurence-Moon-Biedl-Bardet, Alstrom, and Usher syndromes, with the difference being the ab [...]
Kyrle disease (hyperkeratosis follicularis and parafollicularis in cutem penetrans; hyperkeratosis penetrans)
Kyrle Disease (Hyperkeratosis Follicularis and Parafollicularis in Cutem Penetrans; Hyperkeratosis Penetrans)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Henoch-schönlein purpura (purpura; anaphylactoid purpura) 5
Henoch-Schönlein Purpura (Purpura; Anaphylactoid Purpura)                                                        5 General: Occurs chiefly in children, although it can affect persons of any age; frequently follows an upper respiratory tract [...]
Myasthenia gravis, neonatal or infantile (infantile myasthenia gravis; neonatal myasthenia gravis)
Myasthenia Gravis, Neonatal or Infantile (Infantile Myasthenia Gravis; Neonatal Myasthenia Gravis)Â Â Â Â Â Â Â General: Occurs in newborn of myasthenic mother; caused by compound in circulation received through placenta (see Erb-Goldflam Syndrom [...]
Glaucoma, goniodysgenesis (dysgenic glaucoma; steroid glaucoma)
Glaucoma, Goniodysgenesis (Dysgenic Glaucoma; Steroid Glaucoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; use of topical dexamethasone under the two-allele system; three genotypes; high, intermediate, and lo [...]
Oliver-mcfarlane syndrome (trichomegaly syndrome)
Oliver-McFarlane Syndrome (Trichomegaly Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare syndrome. Ocular: Trichomegaly; pigmentary retinal degeneration. Clinical: Prenatal onset growth failu [...]
Gelineau syndrome (narcoleptic syndrome)
Gelineau Syndrome (Narcoleptic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology not well understood; causes include subthalamic lesions, multiple sclerosis, and tumor of [...]
Trichinellosis (trichinosis)
Trichinellosis (Trichinosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Parasite Trichinella enters the body by ingestion of infected meat (usually poorly coo [...]
3p-syndrome (3p deletion syndrome)
3p-Syndrome (3p Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 3p deletion syndrome. Ocular: Blepharoptosis, telecanthus, mongoloid (down-slanting) p [...]
Pallidal degeneration, progressive, with retinitis pigmentosa (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; harp syndrome)
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration; HARP Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; destruction of [...]
Diffuse keratoses syndrome 368
Diffuse Keratoses Syndrome &n [...]
Von reuss syndrome (galactosemic syndrome; galactokinase deficiency; galactosemia) 1
Von Reuss Syndrome (Galactosemic Syndrome; Galactokinase Deficiency; Galactosemia)Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal recessive; consanguinity; conversion of galactose into glucose is blocked, leading to galactosemia; onset after a few days or [...]
Loffler syndrome (eosinophilic pneumonitis)
Loffler Syndrome (Eosinophilic Pneumonitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown, but such considerations as drug hypersensitivity, parasites, mycoses, and periarter [...]
Pisk (pressure induced intralamellar stromal keratitis) 9
PISK (Pressure Induced Intralamellar Stromal Keratitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Associated with LASIK post operative patients Ocular: Elevated IOP; ocular discomfort; blurred vision; [...]
Curtius syndrome (ectodermal dysplasia with ocular malformations) 334
Curtius Syndrome (Ectodermal Dysplasia with Ocular Malformations) [...]
Liposarcoma
Liposarcoma                                                                                                                                              General: Aggressive malignant neoplasms of lipogenic cells; occurs at any age, but rare [...]
Woody-ghadimi syndrome (ghadimi-woody syndrome; hyperlysinemia, persistent) 1
Woody-Ghadimi Syndrome (Ghadimi-Woody Syndrome; Hyperlysinemia, Persistent)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Inherited probably autosomal dominant; affects both sexes; age of detection from infancy to early adulthood. Ocular: Strabismus; ectop [...]
Giant fornix syndrome
Giant Fornix Syndrome                                                                                                                           General: Enlarged upper fornix with buildup of mucopurulent debri and persistant discharge. O [...]
Apert syndrome
Apert Syndrome (Acrocephalosyndactylism Syndrome; Acrocranio-dysphalangia; Acrodysplasia; Sphenoacrocranio-syndactyly; Absent-Digits-Cranial-Defects Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Inherited; most often rec [...]
Optic pit syndrome
Optic Pit Syndrome                                                                                                                                   General: Congenital. Ocular: Serous detachment of macula; situs inversus; peripapillary [...]
Gitelman syndrome
Gitelman Syndrome                                                                                                                                  General: Autosomal recessive, renal tubulopathy characterized by hypokalemia, hypomagnesemia, [...]
Onchocerciasis syndrome (river blindness; onchocerca volvulus infestation)
Onchocerciasis Syndrome (River Blindness; Onchocerca Volvulus Infestation)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Nematode infestation; positive diagnosis made with microfilariae from a skin biopsy and the presence of microfilariae in ant [...]
Seborrheic dermatitis 1
Seborrheic Dermatitis                                                                                                                             1 General: Genetically determined structural and functional abnormality of the skin that produc [...]
Electrical injury
Electrical Injury                                                                                                                                        General: Electric current passes through the body; voltage ranging from 100 to 200 mill [...]
Progressive foveal dystrophy (central retinal pigment epithelial dystrophy)
Progressive Foveal Dystrophy (Central Retinal Pigment Epithelial Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; onset late in the first decade of life. Ocular: Progressive foveal dystrophy; pigmentary changes and dr [...]
Anoxic overwear syndrome
Anoxic Overwear Syndrome                                                                                                                          General: Caused by a reduction in oxygen supply due to continuously worn hydrogel lenses; alle [...]
Oliver-mcfarlane syndrome (trichomegaly syndrome)
Oliver-McFarlane Syndrome (Trichomegaly Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare syndrome. Ocular: Trichomegaly; pigmentary retinal degeneration. Clinical: Prenatal onset growth failu [...]
Granuloma venereum
Granuloma Venereum                                                                                                                              General: Donovania granulomatis; infective venereal disease; prevalent in black women; Chlamydia [...]
Cerebellar ataxia, cataract, deafness, and dementia or psychosis (heredopathia ophthalmo-oto-encephalica) 219
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis (Heredopathia Ophthalmo-Oto-Encephalica) [...]
Yellow fever
Yellow Fever                                                                                                                                            General: Acute infectious disease of short duration and extremely variable severity. [...]
Juvenile diabetes-dwarfism-obesity syndrome (mauriac syndrome; dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome) 6
Juvenile Diabetes-Dwarfism-Obesity Syndrome (Mauriac Syndrome; Dwarfism-Hepatomegaly-Obesity-Juvenile Diabetes Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 Gene [...]
Ankyloblepharon filiforme adnatum and cleft palate
Ankyloblepharon Filiforme Adnatum and Cleft Palate (Hay-Wells Syndrome; AEC Syndrome) General: Autosomal dominant; cleft palate and/or cleft lip; congenital filiform fusion of eyelids. Ocular: Filiform fusion of eyelids; pterygium; kerato [...]
Millard-gubler syndrome (abducens-facial hemiplegia alternans)
Millard-Gubler Syndrome (Abducens-Facial Hemiplegia Alternans)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Vascular, infectious, or tumorous lesion at the base of the pons affecting the nuclei of the sixth and seventh nerves [...]
Visual paraneoplastic syndrome 1
Visual Paraneoplastic Syndrome                                                                                                           1 General: Loss of visual acuity and loss of visual field due to malignant disease without metastasis to [...]
Klüver-bucy syndrome (temporal lobectomy behavior syndrome)
Klüver-Bucy Syndrome (Temporal Lobectomy Behavior Syndrome)                                                General: Occurs after temporal lobectomy, carried out therapeutically for temporal lobe epilepsy. Ocular: 'Psychic blindness' or [...]
Mycosis fungoides syndrome (sézary syndrome; malignant cutaneous reticulosis syndrome)
Mycosis Fungoides Syndrome (Sézary Syndrome; Malignant Cutaneous Reticulosis Syndrome)    General: Lymphoma characterized by abnormal lymphocytes having hyperchromatic, hyperconvoluted nuclei; malignant, cutaneous T-cell lymphoma, which in [...]
Triploidy syndrome
Triploidy Syndrome                                                                                                                                General: Extra set of chromosomes due to diandry or digyny; stillbirth or early neonatal death [...]
Arnold pick syndrome
Arnold Pick Syndrome (Aphasia-Agnosia-Apraxia Syndrome; Pick Syndrome [2]; Pick Disease of the Brain) General: Widespread cortical atrophy; manifested between 40 and 70 years; pathogenesis remains unknown; cannot be consistently differentiat [...]
Wildervanck syndrome (cervicooculoacousticus syndrome; franceschetti-klein- wildervanck syndrome; wildervanck-waardenburg syndrome; cervicooculofacial dysmorphia; cervicooculofacial syndrome)
Wildervanck Syndrome (Cervicooculoacousticus Syndrome; Franceschetti-Klein- Wildervanck Syndrome; Wildervanck-Waardenburg Syndrome; Cervicooculofacial Dysmorphia; Cervicooculofacial Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
13q-syndrome (13q deletion syndrome) 1
13q-Syndrome (13q Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Chromosome 13q deletion syndrome. Ocular: Retinoblastoma; telecanthus; hypertelorism; optic nerve [...]
Myxomas, spotty pigmentation, and endocrine overactivity syndrome (name syndrome)
Myxomas, Spotty Pigmentation, and Endocrine Overactivity Syndrome (NAME Syndrome)Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Eyelid myxomas; pigmented lesions of the caruncle or conjunctival semilunar fold. Clinical: Cardiac, cutan [...]
Lymphocytic choriomeningitis (aseptic meningitis)
Lymphocytic Choriomeningitis (Aseptic Meningitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Virus of which natural host is house mouse; more common in late fall and winter; usually benign. Ocula [...]
Congenital hereditary retinoschisis (chrs; juvenile x-linked retinoschisis) 282
Congenital Hereditary Retinoschisis (CHRS; Juvenile X-Linked Retinoschisis) &n [...]
Ota syndrome (nevus of ota; oculodermal melanocytosis; nevus fuscoceruleus-ophthalmomaxillaris syndrome)
Ota Syndrome (Nevus of Ota; Oculodermal Melanocytosis; Nevus Fuscoceruleus-Ophthalmomaxillaris Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Buerger disease (thromboangiitis obliterans) 181
Buerger Disease (Thromboangiitis Obliterans) &n [...]
Alopecia areata
Alopecia Areata                                                                                                                                               General: Unknown etiology; increased incidence of autoimmune disease, Addison dise [...]
Ohaha syndrome (ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis)
OHAHA Syndrome (Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, Athetosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis (OHARA) are distinguishing symptoms; sudden onset of deafness at an age [...]
Marshall-smith syndrome 7
Marshall-Smith Syndrome                                                                                                                       7 General: Rare congenital condition with advanced bone age, facial anomalies, and relative failure [...]
Noonan syndrome (male turner syndrome) 8
Noonan Syndrome (Male Turner Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Similar to Turner syndrome, but with normal chromosomal analysis; X-linked dominant inheritance; X-linke [...]
Spasmus nutans syndrome
Spasmus Nutans Syndrome                                                                                                                   General: Etiology unknown; both sexes affected; onset between ages 6 and 18 months; disappears during [...]
Neurocutaneous syndrome
Neurocutaneous Syndrome                                                                                                                      General: Triad of linear nevus sebaceous; seizures; mental retardation. Ocular: Colobomas of irid [...]
Strumpell-leichtenstern syndrome (acute hemorrhagic encephalitis) 1
Strumpell-Leichtenstern Syndrome (Acute Hemorrhagic Encephalitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology viral, postvaccinal, drug-induced, or allergic; both sexes affected; onset at all ages but prevalent in childre [...]
Ischemic orbital compartment syndrome
Ischemic Orbital tment Syndrome                                                                                             General: Associated with spine surgery in the prone position Ocular: Proptosis; elevated intraocular pressu [...]
Spinocerebellar atrophy with pupillary paralysis
Spinocerebellar Atrophy with Pupillary Paralysis                                                                               General: Autosomal dominant; rare. Ocular: Absence of pupillary reaction to light or convergence. Clinical: [...]
Rift valley fever
Rift Valley Fever                                                                                                                                     General: Acute viral infection transmitted by mosquito that occurs in regions of Africa. [...]
Strachan syndrome (tropical nutritional neuropathy)
Strachan Syndrome (Tropical Nutritional Neuropathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Possibly nutritional vitamin A deficiency, chronic cyanide poisoning, and/or infectious agents. Ocular: Opti [...]
Larsen syndrome
Larsen Syndrome                                                                                                                                      General: Etiology unknown; autosomal recessive; possibly dominant in some cases. Ocular: [...]
Fish-eye disease (corneal opacities-dyslipoproteinemia)
Fish-Eye Disease (Corneal Opacities-Dyslipoproteinemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; rare; described in Swedish family; currently considered a unique dyslipoproteinemia. O [...]
Vogt-koyanagi-harada disease (harada disease; uveitis-vitiligo-alopecia-poliosis syndrome) 1
Vogt-Koyanagi-Harada Disease (Harada Disease; Uveitis-Vitiligo-Alopecia-Poliosis Syndrome)Â Â Â 1 General: Viral infection; occurs predominantly among Italian and Japanese individuals; young adults; chronic. Ocular: White lashes; secondary [...]
Disseminated intravascular coagulation 373
Disseminated Intravascular Coagulation &n [...]
String syndrome 1
String Syndrome                                                                                                                                     1 General: Following encircling operations or circular diathermy, chemosis, and excess protei [...]
Acute retinal necrosis syndrome (arn syndrome; bilateral acute retinal necrosis; barn syndrome)
Acute Retinal Necrosis Syndrome (ARN Syndrome; Bilateral Acute Retinal Necrosis; Â Barn Syndrome)Â Â Â Â General: Evidence of association with herpes-type deoxyribonucleic acid (DNA) virus; occurs both unilaterally and bilaterally; includes var [...]
Lockjaw (tetanus)
Lockjaw (Tetanus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute infectious disease affecting nervous system; causative agent is Clostridium [...]
Kiloh-nevin syndrome (muscular dystrophy of external ocular muscles; ocular myopathy)
Kiloh-Nevin Syndrome (Muscular Dystrophy of External Ocular Muscles; Ocular Myopathy)Â Â Â Â Â Â General: Etiology unknown; autosomal dominant. Ocular: Ptosis; orbicularis muscle weakness; ocular myopathy; diplopia progressing to bilateral my [...]
Parkinson syndrome (paralysis agitans; shaking palsy)
Parkinson Syndrome (Paralysis Agitans; Shaking Palsy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Late stages of epidemic encephalitis; present with arteriosclerosis and with manganese and carbon monoxide po [...]
Gray iris syndrome
Gray Iris Syndrome                                                                                                                                  General: Excessive trauma of iris at time of lens imtation with loss of posterior iris pigme [...]
Hurler-scheie syndrome (mps i h/s) 5
Hurler-Scheie Syndrome (MPS I H/S)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Clinical disorder with severity midway between the Hurler and Scheie syndromes; genetic compound [...]
Granuloma faciale
Granuloma Faciale                                                                                                                                   General: Uncommon disease; etiology unknown; characterized by single or multiple cutaneous n [...]
Epiphyseal dysplasia of femoral heads, myopia, deafness
Epiphyseal Dysplasia of Femoral Heads, Myopia, Deafness                                                                 General: Autosomal recessive. Ocular: Severe myopia. Clinical: Femoral epiphyseal dysplasia; deafness. McKusick [...]
Pallidal degeneration, progressive, with retinitis pigmentosa (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; harp syndrome)
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration; HARP Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; destruction of [...]
Ocular myopathy with curare sensitivity
Ocular Myopathy with Curare Sensitivity                                                                                              General: Autosomal recessive. Ocular: Static ophthalmoparesis. Clinical: Limb weakness; sensitivity to [...]
3b translocation syndrome
3B Translocation Syndrome                                                                                                                  General: Chromosomal anomaly transmitted by the female but not the male carrier. Ocular: Iris colob [...]
Francois (1) dystrophy (francois-neetens syndrome; central cloudy dystrophy; cloudy central corneal dystrophy)
Francois (1) Dystrophy (Francois-Neetens Syndrome; Central Cloudy Dystrophy; Cloudy Central Corneal Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Anterior segment ischemia syndrome
Anterior Segment Ischemia Syndrome                                                                                                         General: Occasional complication of strabismus surgery; usually occurs in adult patients who have par [...]
Ophthalmoplegia, progressive external
Ophthalmoplegia, Progressive External                                                                                                  General: Autosomal recessive; progressive limitation of ocular motility with clinical sparing of pupillar [...]
Usher syndrome (hereditary retinitis pigmentosa-deafness syndrome)
Usher Syndrome (Hereditary Retinitis Pigmentosa-Deafness Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Retinitis pigmentosa associated with deaf-mutism; dominantly inherited; anatomic and metabolic condition; onset unknown (se [...]
Lymphogranuloma venereum (nicolas-favre disease; tropical bubo lgv; lymphogranuloma inguinale)
Lymphogranuloma Venereum (Nicolas-Favre Disease; Tropical Bubo LGV; Lymphogranuloma Inguinale)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Trisomy 17p syndrome 1
Trisomy 17p Syndrome                                                                                                                          1 General: Trisomy 17p duplication syndrome. Ocular: Hypertelorism, antimongoloid (up-slanting) p [...]
Jones syndrome (cherubism; mandibular cystic dysplasia)
Jones Syndrome (Cherubism; Mandibular Cystic Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; both sexes affected; present at birth. Ocular: White line beneath the iris on sclera; hyper [...]
Urbach-wiethe syndrome (rossle-urbach-wiethe syndrome; lipoproteinosis; hyalinosis cutis et mucosae; lipoid proteinosis; proteinosis-lipoidosis)
Urbach-Wiethe Syndrome (Rossle-Urbach-Wiethe Syndrome; Lipoproteinosis; Hyalinosis Cutis et Mucosae; Lipoid Proteinosis; Proteinosis-Lipoidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare autoso [...]
Cataract and congenital ichthyosis 204
Cataract and Congenital Ichthyosis [...]
Congenital cataract and hypertrophic cardiomyopathy syndrome 275
Congenital Cataract and Hypertrophic Cardiomyopathy Syndrome [...]
Reimann syndrome (hyperviscosity syndrome)
Reimann Syndrome (Hyperviscosity Syndrome)                                                                                 General: Frequently found in association with Waldenström syndrome, other hyperglob-ulinemias, and occasionally with [...]
Eyebrow whorl
Eyebrow Whorl                                                                                                                                         General: Autosomal dominant. Ocular: Whorl in the hair of the eyebrow; myopia, teleca [...]
Poststreptococal uveitis syndrome
Poststreptococal Uveitis Syndrome                                                                                                        General: Associated with bilateral nongranulomatous ocular inflammation; seen in individuals over 40 ye [...]
Retinoschisis, congenital
Retinoschisis, Congenital                                                                                                                        General: X-linked recessive; nearly always found in males. Ocular: Retinal splitting usually [...]
Banti disease (chronic congestive splenomegaly; fibrocongestive splenomegaly; splenic anemia; hepatolienal fibrosis)
Banti Disease (Chronic Congestive Splenomegaly; Fibrocongestive Splenomegaly; Splenic Anemia; Hepatolienal Fibrosis) General: Etiology portal hypertension due to thrombosis, compression, or aneurysm; insidious or sudden onset; most frequentl [...]
Micropsia syndrome (lilliputian syndrome)
Micropsia Syndrome (Lilliputian Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Psychosensory illusion produced by various mental derangements such as acute infections, alcoholism, [...]
Franceschetti syndrome (franceschetti-zwahlen-k1ein syndrome; treacher collins syndrome; mandibulofacial dysostosis; mandibulofacial syndrome; eyelid-malar-mandible syndrome; oculovertebral syndrome; berry syndrome; franceschetti-zwahlen syndrome; zwahlen syndrome; bilateral facial agenesis; berry-franceschetti-k1ein syndrome; franceschetti-k1ein syndrome; franceschetti syndrome (ii); treacher collins-franceschetti syndrome; weyers-thier syndrome) 4
Franceschetti Syndrome (Franceschetti-Zwahlen-K1ein Syndrome; Treacher Collins Syndrome; Mandibulofacial Dysostosis; Mandibulofacial Syndrome; Eyelid-Malar-Mandible Syndrome; Oculovertebral Syndrome; Berry Syndrome; Franceschetti-Zwahlen Syndrome [...]
Addison pernicious anemia syndrome (pernicious anemia syndrome; vitamin b12 deficiency anemia; macrocytic anemia; biermer syndrome)
Addison Pernicious Anemia Syndrome (Pernicious Anemia Syndrome; Vitamin B12 Deficiency  Anemia; Macrocytic Anemia; Biermer Syndrome) General: Autosomal dominant; female preponderance; onset between ages 30 and 50 years; lack of intrinsic fa [...]
Marinesco-sjögren syndrome (congenital spinocerebellar ataxia- congenital cataract-oligophrenia syndrome) 7
Marinesco-Sjögren Syndrome (Congenital Spinocerebellar Ataxia- Congenital Cataract-Oligophrenia Syndrome)                                                                                                                                                [...]
Pituitary necrosis syndrome (postpartum hypopituitarism syndrome; sheehan syndrome; simmonds-sheehan syndrome) 9
Pituitary Necrosis Syndrome (Postpartum Hypopituitarism Syndrome; Sheehan Syndrome; Simmonds-Sheehan Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Etiolog [...]
Pruritus
Pruritus                                                                                                                                                    General: Unpleasant sensation perceived in the skin that elicits the response of scr [...]
Ophthalmopathic syndrome (thyrohypophysial syndrome)
Ophthalmopathic Syndrome (Thyrohypophysial Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Exophthalmos, usually bilateral; pituitary hypersecretion or enhanced tissue sensitivity to exophthalmos-producing f [...]
Peroneal muscular atrophy (pma; neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway, and autonomic disturbance)
Peroneal Muscular Atrophy (PMA; Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway, and Autonomic Disturbance)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Peroneal muscular atro [...]
Good acuity plus photosensitivity (gapp). track related iridiocyclitis and scleritis (trisc), transient light sensitivity (tls)
Good Acuity Plus Photosensitivity (GAPP). Track Related Iridiocyclitis and Scleritis (TRISC), Transient Light Sensitivity (TLS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Ménière syndrome
Ménière Syndrome                                                                                                                                    General: Etiology unknown; more common in males between ages 40 and 60 years. Ocular: Nys [...]
Avitaminosis c (scurvy; vitamin c deficiency)
Avitaminosis C (Scurvy; Vitamin C Deficiency) General: Vitamin C deficiency. Ocular: Hemorrhages of lids, anterior chamber, vitreous cavity, retina, subconjunctival space, and orbit (most prominent, with resulting exophthalmos); keratiti [...]
Neurodermatitis (lichen simplex chronicus)
Neurodermatitis (Lichen Simplex Chronicus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Skin altered due to chronic rubbing or scratching. Ocular: Keratoconjunctivitis; lid edema; lid pig [...]
Vermis syndrome
Vermis Syndrome                                                                                                                                   General: Medulloblastomas arising primarily in the posterior vermis but invading the fourth ve [...]
Treft syndrome
Treft Syndrome                                                                                                                                       General: Autosomal dominant; usually appears by age 11 years. Ocular: Optic atrophy; visu [...]
Marin amat syndrome (inverted marcus gunn phenomenon) 7
Marin Amat Syndrome (Inverted Marcus Gunn Phenomenon)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Intrafacial connection between the orbicularis oculi and external pterygoid muscles; occurs primarily after peripheral [...]
Kallmann syndrome (hypogonadotropic hypogonadism-anosmia syndrome)
Kallmann Syndrome (Hypogonadotropic Hypogonadism-Anosmia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Disorder of hypothalamic function involving the control of releasing factors, with hypogonadism and anosmia as the clinical signs; a [...]
Smith syndrome (facio-skeleto-genital dysplasia)
Smith Syndrome (Facio-Skeleto-Genital Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; more common in males. Ocular: Ptosis; antimongoloid slant; epicanthus. Clinical: [...]
G
G G Syndrome (Hypertelorism Esophageal Abnormality and Hypospadias; Hypospadias-Dysphagia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Periocular metastatic tumors (ocular metastatic tumors)
Periocular Metastatic Tumors (Ocular Metastatic Tumors)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Neoplasms that develop from malignant cells and are carried from a primary site of malignancy. Ocular: Reti [...]
Mad hatter syndrome
Mad Hatter Syndrome                                                                                                                              General: Chronic mercury intoxication; symptoms seldom improve regardless of treatment. Ocul [...]
Mulibrey nanism syndrome (perheentupa syndrome)
Mulibrey Nanism Syndrome (Perheentupa Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive inheritance; progressive growth failure; myocardial fibrosis. Ocular: Alternating esotrop [...]
N
N Naegeli Syndrome (Melanophoric Nevus Syndrome; Franceschetti-Jadassohn Syndrome; Naegeli Incontinentia Pigmenti; Reticular Pigmented Dermatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autoso [...]
Episkopi blindness
Episkopi Blindness                                                                                                                                    General: Sex-linked; confined to male members of Greek Cypriot family group, most of whom [...]
Hanhart syndrome (richner syndrome; recessive keratosis palmoplantaris; pseudoherpetic keratitis; richner-hanhart syndrome; tyrosinemia ii; tyrosinosis; pseudodendritic keratitis) 5
Hanhart Syndrome (Richner Syndrome; Recessive Keratosis Palmotaris; Pseudoherpetic Keratitis; Richner-Hanhart Syndrome; Tyrosinemia II; Tyrosinosis; Pseudodendritic Keratitis)Â Â Â 5 General: Autosomal recessive; consanguinity. Ocular: Ex [...]
Oculo-orogenital syndrome (riboflavin deficiency syndrome; gopalan ii syndrome; jolliffe syndrome)
Oculo-Orogenital Syndrome (Riboflavin Deficiency Syndrome; Gopalan II Syndrome; Jolliffe Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Kartagener syndrome (sinusitis-bronchiectasis-situs inversus syndrome; bronchiectasis-dextrocardia-sinusitis; kartagener triad) 6
Kartagener Syndrome (Sinusitis-Bronchiectasis-Situs Inversus Syndrome; Bronchiectasis-Dextrocardia-Sinusitis; Kartagener Triad)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 [...]
Aniridia, cerebellar ataxia, and mental deficiency (gillespie syndrome)
Aniridia, Cerebellar Ataxia, and Mental Deficiency (Gillespie Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; onset at birth. Ocular: Congenital cataracts; incomplete formation of iris; bilateral co [...]
Sorsby iii syndrome (sorsby fundus dystrophy)
Sorsby III Syndrome (Sorsby Fundus Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Both sexes affected; onset in fifth decade of life; autosomal dominant; mutations in the tissue inhibitor of [...]
Franceschetti syndrome (i)
Franceschetti Syndrome (I)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Inborn disease occurring at birth; etiology unknown. Ocular: Deep punctate dystrophy [...]
Von recklinghausen syndrome (neurofibromatosis type i; neurinomatosis) 1
Von Recklinghausen Syndrome (Neurofibromatosis Type I; Neurinomatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Dominant inheritance activated at puberty, during pregnancy, and at menopause; strong evidence supports the existence of NFl as [...]
Snuff-out syndrome (snuff syndrome) 1
Snuff-Out Syndrome (Snuff Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Rare; sudden vision loss following ocular or laser surgery in patients with advanced glaucoma; etiolo [...]
Coenurosis 261
Coenurosis [...]
Bruns syndrome (postural change syndrome) 180
Bruns Syndrome (postural Change Syndrome) [...]
Kjellin syndrome 6
Kjellin Syndrome                                                                                                                                      6 General: Autosomal recessive disorder; degeneration progressive. Ocular: Yellow retinal [...]
Peutz-touraine syndrome (peutz-jeghers syndrome)
Peutz-Touraine Syndrome (Peutz-Jeghers Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Recognized in infants; autosomal dominant; gastrointestinal polyps; jejunal polyps are consistent feature; the [...]
Cretinism (hypothyroid goiter; hypothyroidism; juvenile hypothyroidism; myxedema) 320
Cretinism (Hypothyroid Goiter; Hypothyroidism; Juvenile Hypothyroidism; Myxedema) 320 General: Deficient thyroid function. Ocular: [...]
Otocephaly
Otocephaly                                                                                                                                                 General: Birth defect; extreme malformation of first brachial arch characterized by a [...]
Wermer syndrome (multiple endocrine neoplasia 1; men1; multiple endocrine adenomatosis 1; mea1; endocrine adenoma-peptic ulcer complex; pluriglandular adenomatosis n 1
Wermer Syndrome (Multiple Endocrine Neoplasia 1; MEN1; Multiple Endocrine Adenomatosis 1; MEA1; Endocrine Adenoma-Peptic Ulcer Complex; Pluriglandular Adenomatosis n                    1 General: Autosomal dominant; high degree of pen [...]
Palatal myoclonus syndrome
Palatal Myoclonus Syndrome                                                                                                                  General: Vascular disorders of brainstem that involve inferior olive and olivodentate connection; co [...]
Mckusick-weiblaecher syndrome 7
McKusick-Weiblaecher Syndrome                                                                                                          7 General: Cataract; leg absence deformity; rare; two cases reported in Amish females whose parents share [...]
Polycythemia vera (erythema; erythrocytosis megalosplenica; myelopathic polycythemia; vaquez disease; vaquez-osler syndrome; cryptogenic polycythemia; polycythemia rubra; splenomegalic polycythemia)
Polycythemia Vera (Erythema; Erythrocytosis Megalosplenica; Myelopathic Polycythemia; Vaquez Disease; Vaquez-Osler Syndrome; Cryptogenic Polycythemia; Polycythemia Rubra; Splenomegalic Polycythemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Cholera 238
Cholera &nb [...]
Acropachy (hypertrophic pulmonary osteoarthropathy)
Acropachy (Hypertrophic Pulmonary Osteoarthropathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Three separate components: clubbing of fingers, periosteal proliferation of distal ends of long bones, and [...]
Pseudoophthalmoplegia syndrome (roth-bielschowsky syndrome)
Pseudoophthalmoplegia Syndrome (Roth-Bielschowsky Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Supranuclear lesion in the temporal lobe. Ocular: Paralysis of lateral gaze in one direction; vestibular nystagmus in w [...]
Spatial visualization aptitude 1
Spatial Visualization Aptitude                                                                                                               1 General: Sex-linked; more prevalent in males. Ocular: Aptitude for visualizing space. Clinica [...]
Oculorenocerebellar syndrome (orc syndrome)
Oculorenocerebellar Syndrome (ORC Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive. Ocular: Progressive tapetoretinal degeneration with loss of retinal vessels. Clini [...]
Carpenter syndrome (acrocephalopolysyndactyly type ii) 202
Carpenter Syndrome (Acrocephalopolysyndactyly Type II) &nbs [...]
Optic disk traction syndrome
Optic Disk Traction Syndrome                                                                                                                General: Optic disc traction with elevation associated with posterior vitreous detachment or vitreop [...]
Neuroblastoma
Neuroblastoma                                                                                                                                          General: Highly malignant solid tumor arising from undifferentiated sympathetic neuroblas [...]
V
V V Esotropia Syndrome                                                                                                                           1 Esotropia greater looking down by 15 prism diopters than looking up; may have under [...]
Angelucci syndrome (critical allergic conjunctivitis syndrome)
Angelucci Syndrome (Critical Allergic conjunctivitis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; pruriginous cutaneous and mucous reactions that appear and cease rather suddenly. Ocu [...]
Cat's-eye syndrome (schachenmann syndrome; schmid-fraccaro syndrome; partial trisomy g syndrome) 216
Cat's-Eye Syndrome (Schachenmann Syndrome; Schmid-Fraccaro Syndrome; Partial Trisomy G Syndrome) & [...]
Congenital spherocytic anemia (congenital hemolytic jaundice; hereditary spherocytosis) 286
Congenital Spherocytic Anemia (Congenital Hemolytic Jaundice; Hereditary Spherocytosis) 286 General: Hereditary deficiency of erythrocyte glucose-6-phosphate after exposure to [...]
Bloch-sulzberger syndrome (incontinentia pigmenti; siemens-bloch-sulzberger syndrome) 157
Bloch-Sulzberger Syndrome (Incontinentia Pigmenti; Siemens-Bloch-Sulzberger Syndrome) 157 General: Familial disorder affecting ectoderm; manifestations at birth; female [...]
De lange syndrome (i) (congenital muscular hypertrophy cerebral syndrome; brachmann-de lange syndrome) 354
De Lange Syndrome (I) (Congenital Muscular Hypertrophy Cerebral Syndrome; Brachmann-De Lange Syndrome) [...]
Schafer syndrome (tyrosine transaminase deficiency; richer-hanhart syndrome; keratosis palmoplantaris syndrome) 1
Schafer Syndrome (Tyrosine Transaminase Deficiency; Richer-Hanhart Syndrome; Keratosis Palmotaris Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Hydroa vacciniforme
Hydroa Vacciniforme                                                                                                                               General: Sensitivity to sunlight. Ocular: Conjunctivitis; corneal vesiculae; keratitis; cica [...]
Mcfarland syndrome 7
McFarland Syndrome                                                                                                                              7 General: Autosomal recessive; duplication of chromosome 16q22 has been proposed; prominent amni [...]
Andogsky syndrome (atopic cataract syndrome; dermatogenous cataract)
Andogsky Syndrome (Atopic Cataract Syndrome; Dermatogenous Cataract)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Inherited abnormality involving the skin and lens with an altered reactivity to antigen. Ocular: Atopic keratoconjuncti [...]
Parinaud syndrome (divergence paralysis; subthalamic syndrome; paralysis of vertical movements; pretectal syndrome)
Parinaud Syndrome (Divergence Paralysis; Subthalamic Syndrome; Paralysis of Vertical Movements; Pretectal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Variou [...]
Nieden syndrome (telangiectasia-cataract syndrome) 8
Nieden Syndrome (Telangiectasia-Cataract Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Etiology unknown; familial occurrence; onset from birth. Ocular: Sparse eyebrows; glaucoma; dyscoria; defec [...]
Achondroplasia
Achondroplasia                                                                                                                                               General: Dwarfism; etiology unknown; occurs in both sexes; inheritance is autosomal [...]
Pierre-robin syndrome (robin syndrome; micrognathia-glossoptosis syndrome)
Pierre-Robin Syndrome (Robin Syndrome; Micrognathia-Glossoptosis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; manifestations at birth; pathogenesis based on arrested fetal development; history of intrauterine disturbance in [...]
Elschnig syndrome i (meibomian conjunctivitis)
Elschnig Syndrome I (Meibomian Conjunctivitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic inflammations; characteristic foamy secretion; benign. Ocular: Conjunctivitis; foamy secret [...]
Retinohypophysary syndrome (benign retinohypophysary syndrome; lijo pavia-lis syndrome)
Retinohypophysary Syndrome (Benign Retinohypophysary Syndrome; Lijo Pavia-Lis Syndrome) General: Alterations of the bony structure of the sella turcica with decalcifications and osteolysis of the posterior clinoid process; all ages; more f [...]
Baller-gerold syndrome (craniosynostosis radial aplasia)
Baller-Gerold Syndrome (Craniosynostosis Radial Aplasia) General: Autosomal recessive inheritance. Ocular: Ocular hypertelorism; epicanthic folds. Clinical: High nasal bridge; low philtrum; dysplastic ears; radius hypoplastic or absent [...]
Plague (bubonic plague; pneumonic plague) 9
Plague (Bubonic Plague; Pneumonic Plague)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Infectious disease of animals (principally wild animals and rodents) that is transmitted through the [...]
Hunter syndrome (mps ii syndrome; mucopolysaccharidosis ii; systemic mucopolysaccharidosis type ii) 5
Hunter Syndrome (MPS II Syndrome; Mucopolysaccharidosis II; Systemic Mucopolysaccharidosis Type II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Paget disease (osteitis deformans; congenital hyperphosphatemia; hyperostosis corticalis deformans; pozzi syndrome; chronic congenital idiopathic hyperphosphatemia; osteochalasis desmalis familiaris; familial osteoectasia)
et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hyperphosphatemia; Osteochalasis Desmalis Familiaris; Familial Osteoectasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Babinski-nageotte syndrome (medullary tegmental paralysis)
Babinski-Nageotte Syndrome (Medullary Tegmental Paralysis) General: Lesion in pontobulbar transitional region (corpus restiforme, Deiters nucleus, sympathetic fibers); Horner triad is always part of this syndrome; the findings are similar t [...]
Blastomycosis 151
Blastomycosis &nb [...]
Disseminated sclerosis (multiple sclerosis) 375
Disseminated Sclerosis (Multiple Sclerosis) &nb [...]
Blocked nystagmus syndrome (nystagmus blockage syndrome; nystagmus compensation syndrome) 158
Blocked Nystagmus Syndrome (Nystagmus Blockage Syndrome; Nystagmus Compensation Syndrome) &n [...]
Curly hair-ankyloblepharon-nail dysplasia syndrome (chands) 333
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome (CHANDS) [...]
Optic atrophy-spastic paraplegia syndrome
Optic Atrophy-Spastic Paraplegia Syndrome                                                                                        General: Degenerative disorder of CNS associated with optic atrophy; sex-linked. Ocular: Optic atrophy. Cl [...]
Disseminated lupus erythematosus (systemic lupus erythematosus; lupus erythematosus; kaposi-libman-sack syndrome) 374
Disseminated Lupus Erythematosus (Systemic Lupus Erythematosus; Lupus Erythematosus; Kaposi-Libman-Sack Syndrome) [...]
Pilodental dysplasia with refractive errors (euhidrotic ectodermal dysplasia; trichodental dysplasia with hyperopia)
Pilodental Dysplasia with Refractive Errors (Euhidrotic Ectodermal Dysplasia; Trichodental Dysplasia with Hyperopia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gen [...]
Influenza
Influenza                                                                                                                                                    General: Acute respiratory infection of specific viral etiology. Ocular: Conjunct [...]
Sandhoff disease (gangliosidosis type 2 [gm2])
Sandhoff Disease (Gangliosidosis Type 2 [GM2])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Hereditary cerebromacular degeneration-sphingolipidoses; onset by age 6 months; autosomal recessive in [...]
Nystagmus, hereditary vertical 8
Nystagmus, Hereditary Vertical                                                                                                              8 General: Autosomal dominant. Ocular: Motor-type vertical and horizontal nystagmus; hyperactive v [...]
Porokeratosis
Porokeratosis                                                                                                                                           General: Autosomal dominant; prominent in males; onset in early childhood; characterized [...]
Down syndrome (mongolism; trisomy g; trisomy 21 syndrome; mongoloid idiocy) 383
Down Syndrome (Mongolism; Trisomy G; Trisomy 21 Syndrome; Mongoloid Idiocy) 383 General: Trisomy of chromosome 2 [...]
Smith-magenis syndrome (sms)
Smith-Magenis Syndrome (SMS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Mental retardation, physical dysmorphia, and behavior abnormalities due to a deletion at chromoso [...]
Siegrist syndrome (pigmented choroidal vessels)
Siegrist Syndrome (Pigmented Choroidal Vessels)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare; more common in females (2:1); malignant hypertension; onset in advanced age. Ocular: Exophthalmos [...]
Osteogenesis imperfecta congenita, microcephaly, and cataracts
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts                                                     General: Autosomal recessive. Ocular: Cataracts; blue sclera; keratoconus. Clinical: Brain abnormally small; multiple p [...]
Rothmund syndrome (rothmund-thomson syndrome; telangiectasia-pigmentation-cataract syndrome; ectodermal syndrome; congenital poikiloderma with juvenile cataract)
Rothmund Syndrome (Rothmund-Thomson Syndrome; Telangiectasia-Pigmentation-Cataract Syndrome; Ectodermal Syndrome; Congenital Poikiloderma with Juvenile Cataract)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; more common in females (2:1) [...]
Coloboma, ocular 267
Coloboma, Ocular [...]
Myelinated optic nerve fibers
Myelinated Optic Nerve Fibers                                                                                                                General: Autosomal dominant; transmission has been reported as autosomal recessive. Ocular: Whit [...]
Pneumococcal infections (streptococcus pneumoniae infections)
Pneumococcal Infections (Streptococcus Pneumoniae Infections)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Gram-positive diplococcus Streptococcus pneumoniae; some strains are encapsulated while others are not; ocular infec [...]
4q- syndrome (4q deletion syndrome) 4
4q- Syndrome (4q Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Chromosome 4q deletion syndrome. Ocular: Hypertelorism, epicanthal folds. Clinical: Depress [...]
Friedreich ataxia (spinocerebellar ataxia) 4
Friedreich Ataxia (Spinocerebellar Ataxia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Etiology unknown, either autosomal recessive or dominant; progressive; incapacitating by age 20 [...]
Meretoja syndrome (finnish type, fap iv) 7
Meretoja Syndrome (Finnish Type, FAP IV)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV; also called primary h [...]
Junius-kuhnt syndrome (kuhnt-junius disease; macular senile disciform degeneration [i]; macula lutea juvenile degeneration [2]) 6
Junius-Kuhnt Syndrome (Kuhnt-Junius Disease; Macular Senile Disciform Degeneration [I]; Macula Lutea Juvenile Degeneration [2])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 G [...]
Mietens syndrome (mietens-weber syndrome)
Mietens Syndrome (Mietens-Weber Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; unclassifiable familial condition. Ocular: Bilateral corneal opacities; horizontal and [...]
Chorea (acute chorea; sydenham chorea; st. vitus dance; huntington hereditary chorea) 240
Chorea (Acute Chorea; Sydenham Chorea; St. Vitus Dance; Huntington Hereditary Chorea) 240 General: Mendelian dominant trait. Ocular: Lid retraction; spasmodic clos [...]
Psittacosis (ornithosis)
Psittacosis (Ornithosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Infectious disease transmitted from birds to man; causative agent is Chlamydia psit [...]
Schwartz syndrome 1
Schwartz Syndrome                                                                                                                                1 General: Glaucoma associated with retinal detachment; caused by inflammation of trabecula or p [...]
Jeune disease (asphyxiating thoracic dystrophy; thoracic-pelvic-phalangeal dystrophy)
Jeune Disease (Asphyxiating Thoracic Dystrophy; Thoracic-Pelvic-Phalangeal Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; similar to Ellis-van Creveld syndrome; positive associations of this disorder with cystinuria has been reported [...]
Molluscum contagiosum
Molluscum Contagiosum                                                                                                                          General: Etiologic agent of this disease is a poxvirus that can cause proliferative skin lesions [...]
Ellis-van creveld syndrome (chondroectodermal dysplasia)
Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive inheritance; occurs in the Amish; associated with de novo chromosomal abnormality: deletion [...]
Gangliosidosis gm1 type 2 (juvenile gangliosidosis) 4
Gangliosidosis GM1 Type 2 (Juvenile Gangliosidosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Absence of Band C isoenzymes of β-galactosidase results in neural and visceral deposition of ganglio [...]
Dermatitis herpetiformis (duhring-brocq disease) 359
Dermatitis Herpetiformis (Duhring-Brocq Disease) &nbs [...]
Papillon-lefevre syndrome (hyperkeratosis palmoplantaris with periodontosis)
Papillon-Lefevre Syndrome (Hyperkeratosis Palmotaris with Periodontosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; onset between ages 1 and 4 years. Ocular: Nystagmus. Clinical: Hyperkeratosis of the palms and sole [...]
Gonorrhea
Gonorrhea                                                                                                                                                 General: Caused by Neisseria gonorrhoeae, which is transmitted sexually. Ocular: Con [...]
Roy syndrome ii 1
Roy Syndrome IIÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Long history of smoking tobacco. Ocular: Cataract; nuclear cataract may be corti [...]
Snowflake vitreoretinal degeneration 1 1
Snowflake Vitreoretinal Degeneration 1Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant; very small yellow-white dots on the retina. Ocular: Fibrillar vitreous dege [...]
Diverticulosis of bowel, hernia, retinal detachment 377
Diverticulosis of Bowel, Hernia, Retinal Detachment & [...]
Pituitary gigantism syndrome (gigantism syndrome; launois syndrome) 9
Pituitary Gigantism Syndrome (Gigantism Syndrome; Launois Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Increased production of growth hormone due to hyperplasia of the eosinophilic cells and chromophobe adenoma of the anterior [...]
Lattice degeneration and retinal detachment
Lattice Degeneration and Retinal Detachment                                                                                      General: Autosomal dominant; progressive; lattice degeneration precedes retinal detachment by about 20 years; f [...]
Pituitary gigantism syndrome (gigantism syndrome; launois syndrome) 9
Pituitary Gigantism Syndrome (Gigantism Syndrome; Launois Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Increased production of growth hormone due to hyperplasia of the eosinophilic cells and chromophobe adenoma of the anterior [...]
Langer-giedion syndrome (trichorhinophalangeal syndrome, type ii)
Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare congenital condition. Ocular: Iris colobomata. Clinical: Mental retardation, bulbous nose, sparse hair, cone-shap [...]
Pertussis (whooping cough)
Pertussis (Whooping Cough)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causative agent Haemophilus pertussis (Bordetella pertussis); not all patients who develop [...]
Myasthenia gravis, neonatal or infantile (infantile myasthenia gravis; neonatal myasthenia gravis)
Myasthenia Gravis, Neonatal or Infantile (Infantile Myasthenia Gravis; Neonatal Myasthenia Gravis)Â Â Â Â Â Â Â General: Occurs in newborn of myasthenic mother; caused by compound in circulation received through placenta (see Erb-Goldflam Syndrom [...]
Sorsby i syndrome (hereditary macular coloboma syndrome) 1
Sorsby I Syndrome (Hereditary Macular Coloboma Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant; related to Laurence-Moon-Bardet-Biedl and Biemond syndromes; apical dystrophy of the extremities a [...]
Optic atrophy with demyelinating disease of cns
Optic Atrophy with Demyelinating Disease of CNSÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; demyelinated optic nerves appear smaller than normal and are pale white or gray in col [...]
Nielsen syndrome (exhaustive psychosis syndrome; neuromuscular exhaustion syndrome) 8
Nielsen Syndrome (Exhaustive Psychosis Syndrome; Neuromuscular Exhaustion Syndrome)Â Â Â Â Â Â Â Â 8 General: Chronic infections; postoperative phases frequently are associated with extreme stress and fatigue; similar manifestations often have been [...]
Bing-neel syndrome 147
Bing-Neel Syndrome &nbs [...]
Cholestasis with gallstone, ataxia, and visual disturbances 239
Cholestasis with Gallstone, Ataxia, and Visual Disturbances &nbs [...]
Yaws (frambesia) 1
Yaws (Frambesia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Chronic infectious disease of childhood; causative agent is Treponema pertenue; inc [...]
Dorsal midbrain syndrome 381
Dorsal Midbrain Syndrome &nbs [...]
Oculogastrointestinal muscular dystrophy
Oculogastrointestinal Muscular Dystrophy                                                                                            General: Autosomal recessive; visceral myopathy with external ophthalmoplegia; intestinal pseudo obstructio [...]
Microphthalmia and mental deficiency
Microphthalmia and Mental Deficiency                                                                                                 General: Autosomal recessive. Ocular: Microphthalmia; corneal opacities. Clinical: Severe mental retar [...]
Papillon-lefevre syndrome (hyperkeratosis palmoplantaris with periodontosis)
Papillon-Lefevre Syndrome (Hyperkeratosis Palmotaris with Periodontosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; onset between ages 1 and 4 years. Ocular: Nystagmus. Clinical: Hyperkeratosis of the palms and sole [...]
Toxic lens syndrome ( toxic anterior segment syndrome; tass) 1
Toxic Lens Syndrome ( Toxic Anterior Segment Syndrome; TASS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Syndrome occurs within a few days to several weeks of imtation of an intraocular lens; with therapy, vision is restored [...]
Frontonasal dysplasia syndrome (median cleft face syndrome)
Frontonasal Dysplasia Syndrome (Median Cleft Face Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Congenital disorder without genetic background; condition may present a variety of facial malformations, depending on [...]
Walker-clodius syndrome (lobster claw deformity with nasolacrimal obstruction; eec; ectrodactyly, ectodermal dysplasia, and cleft lip/palate) 1
Walker-Clodius Syndrome (Lobster Claw Deformity with Nasolacrimal Obstruction; EEC; Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal dominant; bot [...]
Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina (oliver mcfarlane syndrome)
Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of the Retina (Oliver McFarlane Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: A [...]
Senior syndrome (senior-loken syndrome; tubulointerstitial nephropathy syndrome; loken-senior syndrome; renal-retinal syndrome; renal dysplasia and retinal aplasia)
Senior Syndrome (Senior-Loken Syndrome; Tubulointerstitial Nephropathy Syndrome; Loken-Senior Syndrome; Renal-Retinal Syndrome; Renal Dysplasia and Retinal Aplasia)Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive trait; pleiotropic gene with vari [...]
Hypoparathyroidism
Hypoparathyroidism                                                                                                                                 General: Deficient secretion of parathyroid hormone. Ocular: Keratitis; blepharospasm; ptos [...]
Mohr-claussen syndrome (oral-facial-digital syndrome type ii; ofd syndrome; orofaciodigital syndrome ii)
Mohr-Claussen Syndrome (Oral-Facial-Digital Syndrome Type II; OFD Syndrome; Orofaciodigital Syndrome II)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Pisk (pressure induced intralamellar stromal keratitis) 9
PISK (Pressure Induced Intralamellar Stromal Keratitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Associated with LASIK post operative patients Ocular: Elevated IOP; ocular discomfort; blurred vision; [...]
Patterned dystrophy of retinal pigment epithelium
Patterned Dystrophy of Retinal Pigment Epithelium                                                                            General: Autosomal dominant; probably there is a migration of pigment granules in the pigment epithelium, resulting [...]
Trisomy 22 syndrome 1
Trisomy 22 Syndrome                                                                                                                            1 General: Trisomy for chromosome 21/22; trisomy 22 may be very mild form of Down syndrome (trisom [...]
Lhermitte-levy syndrome (hallucinosis-red nucleus; lhermitte-delthil-gamier syndrome)
Lhermitte-Levy Syndrome (Hallucinosis-Red Nucleus; Lhermitte-Delthil-Gamier Syndrome)Â Â Â Â Â Â Â Â General: Lesion of unknown nature in the upper portion of peduncle and subthalamic region; occurs in the elderly. Ocular: Visual hallucinations [...]
Brachymetapody-anodontia-hypotrichosis albinoidism syndrome (anodontia-hypotrichosis syndrome) 169
Brachymetapody-Anodontia-Hypotrichosis Albinoidism Syndrome (Anodontia-Hypotrichosis Syndrome) &nb [...]
Brown-mclean syndrome 177
Brown-McLean Syndrome & [...]
Niacin overdose (nicotinic acid overdose) 8
Niacin Overdose (Nicotinic Acid Overdose)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: B vitamin used in large doses to lower serum cholesterol and triglyceride levels or as a vasodila [...]
Mmmm syndrome (neuhauser syndrome; megalocornea, macrocephaly, mental and motor retardation)
MMMM Syndrome (Neuhauser Syndrome; Megalocornea, Macrocephaly, Mental and Motor Retardation)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gene [...]
Misdirected third nerve syndrome
Misdirected Third Nerve Syndrome                                                                                                       General: May occur with a variety of inflammatory infections and parainfections, vascular lesions, tumors [...]
Tolosa-hunt syndrome (painful ophthalmoplegia) 1
Tolosa-Hunt Syndrome (Painful Ophthalmoplegia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Symptoms last from days to weeks; attacks recur at intervals of months or years; inflammatory lesion of cave [...]
Multiple endocrine neoplasia 2b or 3 (men 2b or 3)
Multiple Endocrine Neoplasia 2B or 3 (MEN 2B or 3)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant inheritance; multiple endocrine neoplasia type 3 (MEN3) has been separated from MEN2 bec [...]
Extreme hydrocephalus syndrome (kleeblattschädel syndrome; cloverleaf skull syndrome; hydrocephalus; chondrodystrophicus congenita)
Extreme Hydrocephalus Syndrome (Kleeblattschädel Syndrome; Cloverleaf Skull Syndrome; Hydrocephalus; Chondrodystrophicus Congenita)                                                                                                           G [...]
Falciform folds with obesity, nontoxic goiter, hypogenitalism, and cryptorchidism 4
Falciform Folds with Obesity, Nontoxic Goiter, Hypogenitalism, and Cryptorchidism                     4 General: Etiology unknown; isolated rare cases. Ocular: Falciform folds; vitreous opacity. Clinical: Obesity; nontoxic goiter; hypo [...]
Dawson disease (dawson encephalitis; subacute sclerosing panencephalitis; inclusion-body encephalitis) 346
Dawson Disease (Dawson Encephalitis; Subacute Sclerosing Panencephalitis; Inclusion-Body Encephalitis) [...]
Reiter syndrome (fiessinger-leroy syndrome; conjunctivo-urethro-synovial syndrome; idiopathic blennorrheal arthritis syndrome; polyarthritis enterica)
Reiter Syndrome (Fiessinger-Leroy Syndrome; Conjunctivo-Urethro-Synovial Syndrome; Idiopathic Blennorrheal Arthritis Syndrome; Polyarthritis Enterica)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; males; onset a [...]
Otocephaly
Otocephaly                                                                                                                                                 General: Birth defect; extreme malformation of first brachial arch characterized by a [...]
Balint syndrome (psychic paralysis of visual fixation syndrome)
Balint Syndrome (Psychic Paralysis of Visual Fixation Syndrome) General: Bilateral lesion of parietooccipital region; rare occurrence; affected patients are unaware of objects otherwise familiar to them. Ocular: Psychic paralysis of visua [...]
Tunbridge-paley disease
Tunbridge-Paley Disease                                                                                                                        General: Onset in childhood; familial; optic atrophy and deafness seen in conjunction with juveni [...]
Corneal dystrophy, macular type (groenouw type ii corneal dystrophy) 300
Corneal Dystrophy, Macular Type (Groenouw Type II Corneal Dystrophy) &nb [...]
Nicolau syndrome (nicolau-hoigne syndrome) 8
Nicolau Syndrome (Nicolau-Hoigne Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: First described as a nonallergic reaction following injection of bismuth; assumed to be caused by emboli [...]
Kloepfer syndrome 6
Kloepfer Syndrome                                                                                                                                  6 General: Rare autosomal recessive disease; manifestations at age 2 months; death between age [...]
Pancreatitis
Pancreatitis                                                                                                                                                General: Inflammation of pancreas. Ocular: Xerosis; night blindness; multiple bran [...]
Young-simpson syndrome
Young-Simpson Syndrome                                                                                                                    General: Rare congenital syndrome. Ocular: Blepharophimosis. Clinical: Congenital hypothyroidism; [...]
Malignant hyperthermia syndrome
Malignant Hyperthermia Syndrome                                                                                                       General: Pharmacogenetic disease with uninhibited flow of calcium ion into muscle substance; leads to comb [...]
Myopia, infantile severe
Myopia, Infantile Severe                                                                                                                          General: Autosomal recessive; consanguineous parents. Ocular: High myopia; optic disk cuppin [...]
Keratoconus posticus circumscriptus (kpc; kpc with associated malformations) 6
Keratoconus Posticus Circumscriptus (KPC; KPC with Associated Malformations)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal recessive; rare; abnormality in corneal curvature centrally localized on its posterior surface in association with opaci [...]
Aarskog-scott syndrome (faciogenital dysplasia)
Aarskog-Scott Syndrome (Faciogenital Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Sex-linked; characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and saddl [...]
Trisomy 2q syndrome (q33-qter)
Trisomy 2q Syndrome (q33-qter)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Associated with monosomy 9p (p24-pter); autosomal recessive or X-linked inheritance. Ocular: [...]
Craniotelencephalic dysplasia 319
Craniotelencephalic Dysplasia [...]
Optic nerve hypoplasia, familial (bilateral, unilateral)
Optic Nerve Hypoplasia, Familial (Bilateral, Unilateral)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; congenital defect of optic nerve and retina that occurs in both unilateral and bila [...]
Linear iga disease
Linear IgA Disease                                                                                                                                    General: Bullous dermatosis with pruritic urticarial lesions with overlying vesicles or bu [...]
P
P e Syndrome (Hypertensive Diencephalic Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Irritation of parasympathetic and sympathetic centers in diencephalon; intradermal histamine 0.25 mg [...]
Argininosuccinic aciduria (trichorrhexis nodosa)
Argininosuccinic Aciduria (Trichorrhexis Nodosa)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Deficient argininosuccinase (A Sase) deficiency; both sexes affected; prevalent in females; autoso [...]
Lymphadenosis benigna orbitae
Lymphadenosis Benigna Orbitae                                                                                                            General: Onset from age 18 to 88 years; localized inflammatory process of undetermined origin; duration [...]
Behçet syndrome (dermato-stomato-ophthalmic syndrome; oculobuccogenital syndrome; gilbert syndrome) 133
Behçet Syndrome (Dermato-Stomato-Ophthalmic Syndrome; Oculobuccogenital Syndrome; Gilbert Syndrome) &nb [...]
Raymond syndrome (raymond-cestan syndrome; cestan [2] syndrome; pontine syndrome; disassociation of lateral gaze syndrome)
Raymond Syndrome (Raymond-Cestan Syndrome; Cestan [2] Syndrome; Pontine Syndrome; Disassociation of Lateral Gaze Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Lesion involving [...]
Primary antiphospholipid syndrome (pas)
Primary Antiphospholipid Syndrome (PAS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Thrombophilic disorder characterized by the presence of autoantibodies and CNS involvement, venous throm [...]
Pituitary dysfunction and chorioretinopathy (cpd syndrome; chorioretinopathy and pituitary dysfunction) 9
Pituitary Dysfunction and Chorioretinopathy (CPD Syndrome; Chorioretinopathy and Pituitary Dysfunction)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Antiphospholipid antibody syndrome (hughes syndrome)
Antiphospholipid Antibody Syndrome (Hughes syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Recurrent arterial and venous thrombosis Ocular: Subconjunctival hemorrhage, hyphema, vitreous hemorrhage [...]
Haemophilus influenzae
Haemophilus Influenzae                                                                                                                           General: Gram-negative rod. Ocular: Conjunctivitis; cellulitis; tenonitis; uveitis; vitreous [...]
Neuroblastoma
Neuroblastoma                                                                                                                                          General: Highly malignant solid tumor arising from undifferentiated sympathetic neuroblas [...]
Fetal alcohol syndrome 4
Fetal Alcohol Syndrome                                                                                                                           4 General: Dysgenesis in children born to alcoholic mothers; both sexes affected; onset from bir [...]
Pillay syndrome (ophthalmomandibulomelic dysplasia)
Pillay Syndrome (Ophthalmomandibulomelic Dysplasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; both sexes affected. Ocular: Corneal opacities. Clinical: Temporomandibular fusion; ob [...]
Passow syndrome (bremer status dysraphicus; status dysraphicus syndrome; syringomyelia; syringobulbia)
Passow Syndrome (Bremer Status Dysraphicus; Status Dysraphicus Syndrome; Syringomyelia; Syringobulbia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Mannosidosis
Mannosidosis                                                                                                                                             General: Rare; deficiency of alpha-mannosidase activity Ocular: Lens opacities; corn [...]
Progressive intracranial arterial occlusion syndrome (taveras syndrome)
Progressive Intracranial Arterial Occlusion Syndrome (Taveras Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Children and young adults; caused by previous trauma and atheroma; occlusive endarteritis; predilection for the circle of Wi [...]
Bipolaris 148
Bipolaris & [...]
Poison ivy dermatitis (rhus dermatitis; poison oak dermatitis; poison sumac dermatitis)
Poison Ivy Dermatitis (Rhus Dermatitis; Poison Oak Dermatitis; Poison Sumac Dermatitis)Â Â Â Â Â Â Â Â Â General: Direct contact or airborne contact from burning of t. Ocular: Keratitis; chemosis; blepharospasm; pustules of eyelids. Clinical: [...]
Falciform detachment with microphthalmia and microcephaly
Falciform Detachment with Microphthalmia and Microcephaly                                                         General: Rare; both sexes affected; etiology unknown. Ocular: Microphthalmia; congenital cataract; corneal opacities; falci [...]
M
M Macular Halo Syndrome                                                                                                                          General: Probably variant of Niemann-Pick disease; major differences are the ocular [...]
Rinx disease (vsx1 mutation) 1
Rinx Disease (VSX1 Mutation)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Mutation of the homeobox transcription factor gene VSX1 (RINX) Wide interpupillary distance; [...]
Passow syndrome (bremer status dysraphicus; status dysraphicus syndrome; syringomyelia; syringobulbia)
Passow Syndrome (Bremer Status Dysraphicus; Status Dysraphicus Syndrome; Syringomyelia; Syringobulbia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Anthrax
MIME-Version: 1.0 Content-Location: file:///C:/2C75B317/sdhk77.htm Content-Transfer-Encoding: quoted-printable Content-Type: text/html; charset="us-ascii" Anthrax &nb= sp; &nb [...]
Ullrich syndrome (ullrich-feichtiger syndrome; dyscraniopylophalangy) 1
Ullrich Syndrome (Ullrich-Feichtiger Syndrome; Dyscraniopylophalangy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Belongs to trisomy 13-l5; unknown etiology; sporadic occurrence. Ocular: Microphthalmia to anophthalmia; hypertelorism; n [...]
Acquired immunodeficiency syndrome (aids; acquired cellular immunodeficiency; acquired immunodeficiency)
Acquired Immunodeficiency Syndrome (AIDS; Acquired Cellular Immunodeficiency; Acquired Immunodeficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Coloboma of macula (agenesis of macula) 265
Coloboma of Macula (Agenesis of Macula) & [...]
One-and-a-half syndrome
One-and-a-Half Syndrome                                                                                                                       General: Lesions in medial longitudinal fasciculus and paramedian pontine reticular formation; lat [...]
Ziprkowski syndrome 1
Ziprkowski Syndrome                                                                                                                            1 General: X-linked recessive albinism. Ocular: Ocular albinism. Clinical: Albinism generaliz [...]
Hays-wells syndrome (aec syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome)
Hays-Wells Syndrome (AEC Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Plummer-vinson syndrome (sideropenic dysphagia syndrome; paterson-brown-kelly syndrome; waldenstrom-kjellberg syndrome)
Plummer-Vinson Syndrome (Sideropenic Dysphagia Syndrome; Paterson-Brown-Kelly Syndrome; Waldenstrom-Kjellberg Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Deficiency of vitamin B co [...]
Paget disease (osteitis deformans; congenital hyperphosphatemia; hyperostosis corticalis deformans; pozzi syndrome; chronic congenital idiopathic hyperphosphatemia; osteochalasis desmalis familiaris; familial osteoectasia)
et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hyperphosphatemia; Osteochalasis Desmalis Familiaris; Familial Osteoectasia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Fetal anticonvulsant syndrome 4
Fetal Anticonvulsant Syndrome                                                                                                              4 General: Congenital after maternal ingestion fo sodium valproate, carbamazepine and phenytoin. Oc [...]
Wolf syndrome (monosomy 4 partial syndrome; chromosome 4 partial deletion syndrome; hirschhorn-cooper syndrome) 1
Wolf Syndrome (Monosomy 4 Partial Syndrome; Chromosome 4 Partial Deletion Syndrome; Hirschhorn-Cooper Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Partial [...]
O
O Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome                                                                      General: Rare, autosomal recessive disease; similar to Prader-Willi and Laurence-Moon-Bardet-Biedl syndrom [...]
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria                                        General: Autosomal recessive. Ocular: Ptosis; external ophthalmoplegia. Clinical: Involvement of cranial nerves and skeletal mus [...]
Fleck retina of kandori syndrome (kandori syndrome) 4
Fleck Retina of Kandori Syndrome (Kandori Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Possibly hereditary; onset young age; focal disturbance of the retinal pigment epithelium (RPE); affects both s [...]
Iridogonodysgenesis (iris hypoplasia with glaucoma)
Iridogonodysgenesis (Iris Hypoplasia With Glaucoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; similar to Rieger syndrome or hereditary juvenile glaucoma. Ocular: Stroma of iris h [...]
Outer retinal ischemic infarction syndrome
Outer Retinal Ischemic Infarction Syndrome                                                                                        General: Complication that may occur during the course of cataract extraction or closed vitrectomy due to obst [...]
Choroidoretinal dystrophy 243
Choroidoretinal Dystrophy &nb [...]
Canine tooth syndrome (class vii superior oblique palsy) 192
Canine Tooth Syndrome (Class VII Superior Oblique Palsy) &n [...]
Muir-torre syndrome
Muir-Torre Syndrome                                                                                                                              General: Rare; autosomal dominant; characterized by sebaceous tumors and internal malignancies [...]
Trisomy 6p syndrome (6p+ syndrome, 6p duplication syndrome) 1
Trisomy 6p Syndrome (6p+ Syndrome, 6p Duplication Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Chromosome 6p trisomy syndrome. Ocular: Blepharochalasis. Clinical: Low birth weight; psychomotor retardation; cran [...]
Bbb syndrome (hypertelorism-hypospadias syndrome; opitz syndrome) 129
BBB Syndrome (Hypertelorism-Hypospadias Syndrome; Opitz Syndrome) &nbs [...]
Agranulocytosis syndrome
Agranulocytosis Syndrome (Pernicious Leukopenia Syndrome; Schultz Syndrome; Agranulocytic  Angina Syndrome; Malignant Neutropenia Syndrome)                                                                                           General: C [...]
Miller syndrome (wilms aniridia syndrome; wagr syndrome; wilms tumor-aniridia- genitourinary abnormalities-mental retardation syndrome)
Miller Syndrome (Wilms Aniridia Syndrome; WAGR Syndrome; Wilms Tumor-Aniridia- Genitourinary Abnormalities-Mental Retardation Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; manifests an asso [...]
Relapsing polychondritis (jaksch wartenhost syndrome; meyenburg-altherz-vehlinger syndrome; von meyenberg ii syndrome)
Relapsing Polychondritis (Jaksch Wartenhost Syndrome; Meyenburg-Altherz-Vehlinger Syndrome; Von Meyenberg II Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Episodic, yet genera [...]
Kufs disease (adult chronic gm2 gangliosidosis; gangliosidosis gm2 adult type; hallervorden-kufs syndrome) 6
Kufs Disease (Adult Chronic GM2 Gangliosidosis; Gangliosidosis GM2 Adult Type; Hallervorden-Kufs Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Nelson syndrome
Nelson Syndrome                                                                                                                                      General: Caused by elevated, incompletely suppressible, or nonsuppressible levels of circul [...]
Foramen lacerum syndrome (aneurysm of internal carotid artery syndrome)
Foramen Lacerum Syndrome (Aneurysm of Internal Carotid Artery Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Most commonly caused by congenital aneurysm involving the intradural portion of the carotid artery. Ocular: Periorbital pain; p [...]
Rheumatoid arthritis (adult)
Rheumatoid Arthritis (Adult)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Systemic disease of unknown cause; more common in women (3:1); thought to have a strong aut [...]
Familial juvenile nephronophthisis (medullary cystic disease) 4
Familial Juvenile Nephronophthisis (Medullary Cystic Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Number of closely related renal disorders are associated with tapetoretinal degeneration; cause unknown. Oc [...]
Spastic quadriplegia, retinitis pigmentosa, mental retardation 1
Spastic Quadriplegia, Retinitis Pigmentosa, Mental Retardation                                                       1 General: Autosomal recessive; consanguineous parents. Ocular: Granular pigmented retina; pale optic disk; retinal degen [...]
Petzetakis-takos syndrome (phlyctenular keratoconjunctivitis)
Petzetakis-Takos Syndrome (Phlyctenular Keratoconjunctivitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Malnutrition; lack of hygiene. Ocular: Superficial keratitis; palpebral edema; cornea hyperesthesia; photophobi [...]
Russell syndrome 1
Russell Syndrome                                                                                                                                    1 General: Onset between 3 months and 2 years; caused by tumors of the anterior portion of th [...]
A esotropia syndrome
A Esotropia Syndrome                                                                                                                                   Esotropia greater looking up by 15 prism diopters than looking down; an overaction of sup [...]
Pericentric syndrome (pericentric inversion of chromosome 11)
Pericentric Syndrome (pericentric Inversion of Chromosome 11)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; leukocyte chromosomes show a pericentric inversion of chromosome 11. Ocular: Strabismus; [...]
Jansen disease (metaphyseal dysostosis)
Jansen Disease (Metaphyseal Dysostosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Affects both sexes; etiology unknown; autosomal dominant. Ocular: Exophthalmos. Clinical: M [...]
Cerebellar ataxia, infantile, with progressive external ophthalmoplegia 220
Cerebellar Ataxia, Infantile, with Progressive External Ophthalmoplegia &nbs [...]
Dialinas-amalric syndrome (amalric-dialinas syndrome; deaf mutism-retinal degeneration syndrome) 365
Dialinas-Amalric Syndrome (Amalric-Dialinas Syndrome; Deaf Mutism-Retinal Degeneration Syndrome) [...]
Outer retinal ischemic infarction syndrome
Outer Retinal Ischemic Infarction Syndrome                                                                                        General: Complication that may occur during the course of cataract extraction or closed vitrectomy due to obst [...]
Tay-sachs syndrome (norman-wood syndrome; familial amaurotic idiocy; gangliosidosis gm2 type 1; hexosaminidase deficiency) 1
Tay-Sachs Syndrome (Norman-Wood Syndrome; Familial Amaurotic Idiocy; Gangliosidosis GM2 Type 1; Hexosaminidase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Simil [...]
Dollinger-bielschowsky syndrome (jansky-bielschowsky syndrome; infantile amaurotic familial idiocy [late]; infantile ganglioside lipidosis [late]; bielschowsky-jansky disease) 378
Dollinger-Bielschowsky Syndrome (Jansky-Bielschowsky Syndrome; Infantile Amaurotic Familial Idiocy [Late]; Infantile Ganglioside Lipidosis [Late]; Bielschowsky-Jansky Disease) [...]
Craniopharyngioma 316
Craniopharyngioma [...]
Charge association (multiple congenital anomalies syndrome; coloboma, heart disease, atresia, retarded growth, genital hypoplasia, ear malformation association) 232
Charge Association (Multiple Congenital Anomalies Syndrome; Coloboma, Heart Disease, Atresia, Retarded Growth, Genital Hypoplasia, Ear Malformation Association) &nb [...]
Turner syndrome (turner-albright syndrome; gonadal dysgenesis; genital dwarfism syndrome; ullrich-turner syndrome; bonnevie-ullrich syndrome; pterygolymphangiectasia syndrome; ullrich-bonnevie syndrome)
Turner Syndrome (Turner-Albright Syndrome; Gonadal Dysgenesis; Genital Dwarfism Syndrome; Ullrich-Turner Syndrome; Bonnevie-Ullrich Syndrome; Pterygolymphangiectasia Syndrome; Ullrich-Bonnevie Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
T
T Takayasu Syndrome (Martorell Syndrome; Aortic Arch Syndrome; Pulseless Disease; Reversed Coarctation Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 [...]
Jadassohn-lewandowsky syndrome (pachyonychia congenita)
Jadassohn-Lewandowsky Syndrome (Pachyonychia Congenita)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant inheritance; three variants: type I has symmetric keratoses of hands and feet and follicular keratos [...]
Frenkel syndrome (ocular contusion syndrome; anterior segment traumatic syndrome) 4
Frenkel Syndrome (Ocular Contusion Syndrome; Anterior Segment Traumatic Syndrome)Â Â Â Â Â Â Â Â Â Â 4 General: Minor blunt trauma to the anterior segment of the globe. Ocular: Sluggish pupil reaction; traumatic mydriasis; iris dialysis; heavy [...]
Narp syndrome
NARP Syndrome                                                                                                                                      General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome. Ocul [...]
Anterior spinal artery syndrome
Anterior Spinal Artery Syndrome (Ventral Medullary Syndrome; Myelomalacia Syndrome; Â Beck Syndrome; Medullary Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid) 8
Neuronal Ceroid Lipofuscinosis (Neuronal Intranuclear Inclusion Disease; NIID)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Probably autosomal recessive. Ocular: Nystagmus; sluggish pupil reaction; restricted ocular movements; optic disk pallor; [...]
Amblyopic schoolgirl syndrome
Amblyopic Schoolgirl Syndrome                                                                                                                   General: Etiology unknown. Ocular: Amblyopia; changes in visual fields; abnormal dark adaptati [...]
Pilodental dysplasia with refractive errors (euhidrotic ectodermal dysplasia; trichodental dysplasia with hyperopia)
Pilodental Dysplasia with Refractive Errors (Euhidrotic Ectodermal Dysplasia; Trichodental Dysplasia with Hyperopia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gen [...]
Foix syndrome (cavernous sinus syndrome; hypophyseal-sphenoidal syndrome; cavernous sinus neuralgia syndrome; godtfredsen syndrome; cavernous sinus-nasopharyngeal tumor syndrome; cavernous sinus thrombosis) 4
Foix Syndrome (Cavernous Sinus Syndrome; Hypophyseal-Sphenoidal Syndrome; Cavernous Sinus Neuralgia Syndrome; Godtfredsen Syndrome; Cavernous Sinus-Nasopharyngeal Tumor Syndrome; Cavernous Sinus Thrombosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Floppy eyelid syndrome 4
Floppy Eyelid Syndrome                                                                                                                          4 General: Origin unknown; more common in males; overweight; X-chromosome-linked inheritance pat [...]
Staphylococcus
Staphylococcus                                                                                                                                        General: Gram-positive coccus Staphylococcus aureus; most common cause of suppurative infe [...]
Cornea plana 295
Cornea a &nbs [...]
Wegener syndrome (wegener granulomatosis) 1
Wegener Syndrome (Wegener Granulomatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology unknown; occurs in fourth and fifth decades of life; persistent rhinitis or sinusitis; three chara [...]
Werner syndrome (progeria of adults) 1
Werner Syndrome (progeria of Adults)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology unknown; recessive inheritance; consanguinity; second and third decades; possible mechani [...]
Aniridia
Aniridia                                                                                                                                                          6 General: Hereditary, recessive (two thirds of cases), can be dominant, sporad [...]
Wiskott-aldrich syndrome 1
Wiskott-Aldrich Syndrome                                                                                                                    1 General: Sex-linked recessive; early infancy with death in the first decade of life; abnormal immun [...]
Glaucoma, congenital
Glaucoma, Congenital                                                                                                                              General: Autosomal recessive; occurs more frequently in males; can occur isolated or associate [...]
Clivus edge syndrome 254
Clivus Edge Syndrome &n [...]
O
O Obesity-Cerebral-Ocular-Skeletal Anomalies Syndrome                                                                      General: Rare, autosomal recessive disease; similar to Prader-Willi and Laurence-Moon-Bardet-Biedl syndrom [...]
Ml i (mucolipidosis i; lipomucopolysaccharidosis; dysmorphic sialidosis; spranger syndrome)
ML I (Mucolipidosis I; Lipomucopolysaccharidosis; Dysmorphic Sialidosis; Spranger Syndrome)Â General: Rare storage disease; autosomal recessive; increased sialic acid and deficiency of the enzyme alpha-N-acetylneuraminidase in cultured muco [...]
Cataract, membranous 210
Cataract, Membranous &n [...]
Ring dermoid syndrome 1
Ring Dermoid Syndrome                                                                                                                       1 General: Autosomal dominant; usually bilateral. Ocular: Dermoid choristoma; conjunctival plaques [...]
General fibrosis syndrome (congenital enophthalmos with ocular muscle fibrosis and ptosis; congenital fibrosis of the inferior rectus with ptosis; strabismus fixus; vertical retraction syndrome (congenital fibrosis syndrome )
General Fibrosis Syndrome (Congenital Enophthalmos with Ocular Muscle Fibrosis and Ptosis; Congenital Fibrosis of the Inferior Rectus with Ptosis; Strabismus Fixus; Vertical Retraction Syndrome (Congenital Fibrosis Syndrome )Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Trisomy 8 mosaicism syndrome 1
Trisomy 8 Mosaicism Syndrome                                                                                                            1 General: Chromosomally abnormal cell line with each cell containing an extra chromosome 8; other cell l [...]
Herrick syndrome (dresbach syndrome; sickle cell disease; drepanocytic anemia) 5
Herrick Syndrome (Dresbach Syndrome; Sickle Cell Disease; Drepanocytic Anemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Usually occurs in members of the black race; poor prognosis. Ocular: Secondary glaucoma; telangiectasis of conjunctival vessels; [...]
Francois (2) dystrophy (francois-evens syndrome; speckled corneal dystrophy) 4
Francois (2) Dystrophy (Francois-Evens Syndrome; Speckled Corneal Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Etiology unknown; congenital; nonprogressive; autosomal dominant, but sporadic cases have been reported. Ocular: Corneal dyst [...]
Metaphyseal chondrodysplasia with retinitis pigmentosa 7
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa                                                                   7 General: Autosomal recessive. Ocular: Retinitis pigmentosa. Clinical: Defective cartilage and growth of long bone [...]
Oculopharyngeal syndrome (progressive muscular dystrophy with ptosis and dysphagia; oculopharyngeal muscular dystrophy)
Oculopharyngeal Syndrome (progressive Muscular Dystrophy with Ptosis and Dysphagia; Oculopharyngeal Muscular Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unkn [...]
Hemochromatosis
Hemochromatosis                                                                                                                                      General: Iron metabolism disorder; genetically determined, but mode of inheritance unknown; [...]
Klippel-feil syndrome (congenital brevicollis; synostosis of cervical vertebra) 6
Klippel-Feil Syndrome (Congenital Brevicollis; Synostosis of Cervical Vertebra)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal recessive inheritance; females more commonly affected; progressive paraplegia may develop late in life. Ocul [...]
Hamman-rich syndrome (alveolar capillary block syndrome; diffuse pulmonary fibrosis syndrome; rheumatoid lung syndrome) 5
Hamman-Rich Syndrome (Alveolar Capillary Block Syndrome; Diffuse Pulmonary Fibrosis Syndrome; Rheumatoid Lung Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General [...]
Sotos syndrome (cerebral gigantism)
Sotos Syndrome (Cerebral Gigantism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Idiopathic disturbance of the diencephalon; etiology unknown; cerebral gigantism in childhood, Russ [...]
Trisomy di syndrome (trisomy 13; patau syndrome; reese syndrome) 1
Trisomy DI Syndrome (Trisomy 13; Patau Syndrome; Reese Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Extra chromosome in the D group; fatal in first few months of life; trisomy 13-l5 resembles trisomy D1. Ocular: Anophthalm [...]
Westphal-strumpell disease (pseudosclerosis of basal ganglion) 1
Westphal-Strumpell Disease (Pseudosclerosis of Basal Ganglion)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Part of Wilson disease; mostly in men; onset at ages 11 to 25 years (see Wilson Disease). Ocular: Brown-yellow [...]
Onchocerciasis syndrome (river blindness; onchocerca volvulus infestation)
Onchocerciasis Syndrome (River Blindness; Onchocerca Volvulus Infestation)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Nematode infestation; positive diagnosis made with microfilariae from a skin biopsy and the presence of microfilariae in ant [...]
Ocular toxoplasmosis (toxoplasmic retinochoroiditis; toxoplasmosis)
Ocular Toxoplasmosis (Toxoplasmic Retinochoroiditis; Toxoplasmosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Parasite infestation caused by Toxoplasma gondii; cell-mediated immunity is believed to be the major defense mechanism [...]
Hutchinson syndrome (adrenal cortex neuroblastoma with orbital metastasis; pepper syndrome)
Hutchinson Syndrome (Adrenal Cortex Neuroblastoma with Orbital Metastasis; Pepper Syndrome) General: Metastatic infraorbital neuroblastoma after hematogenous dissemination of primary tumor; occurs in infants and children up to age 6 years; [...]
Cataract, posterior polar 215
Cataract, Posterior Polar &nb [...]
Vitreous tug syndrome (vitreous wick syndrome) 1
Vitreous Tug Syndrome (Vitreous Wick Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Vitreous strand passes through the pupillary space and becomes attached or incarcerated in a corneal wound ei [...]
Happy puppet syndrome (puppet children)
Happy Puppet Syndrome (Puppet Children)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; very rare form of infantile epilepsy. Ocular: Optic atrophy; deficiency of choroida [...]
Albright syndrome
Albright Syndrome (Fuller Albright Syndrome; Jaffe-Lichtenstein Syndrome; McCune-Albright  Syndrome; Osteitis Fibrosa Disseminata; Osteodystrophia Fibrosa; Polyostotic Fibrous Dysplasia;  Fibrous Dysplasia) General: Etiology unknown; diseas [...]
Bacillus cereus
Bacillus Cereus                                                                                                                                                General: Highly virulent pathogen; most common contaminant of drug injection para [...]
Lissencephaly syndrome (miller-dieker syndrome)
Lissencephaly Syndrome (Miller-Dieker Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; consanguinity; association with deletion of the LIS1 gene located at chromosome 17p13. [...]
Brown-sequard syndrome 178
Brown-Sequard Syndrome [...]
Burnett syndrome (milk drinker syndrome; milk-alkali syndrome) 183
Burnett Syndrome (Milk Drinker Syndrome; Milk-Alkali Syndrome) & [...]
Duane syndrome (retraction syndrome; stilling syndrome; turk-stilling syndrome) 388
Duane Syndrome (Retraction Syndrome; Stilling Syndrome; Turk-Stilling Syndrome) 388 General: Autosomal dominant; more [...]
Locked-in syndrome
Locked-In Syndrome                                                                                                                                General: Usually caused by extensive pontine hemorrhage; awake but paralyzed patient; unable t [...]
9p- syndrome
9p- Syndrome                                                                                                                                            General: Congenital mental retardation syndrome due to a 9p deletion. Ocular: Mongoloi [...]
Hypertrichosis cubiti (hairy elbow syndrome)
Hypertrichosis Cubiti (Hairy Elbow Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; occurs in childhood and regresses spontaneously in puberty; long vellus hair on ext [...]
Branched-chain ketoaciduria (maple syrup urine disease) 171
Branched-Chain Ketoaciduria (Maple Syrup Urine Disease) &n [...]
Optic atrophy, cataract, and neurologic disorder
Optic Atrophy, Cataract, and Neurologic Disorder                                                                              General: Autosomal dominant; similar to syndromes of Behr, Marinesco, Sjögren, and Friedreich, which are autosomal [...]
Lymphedema
Lymphedema                                                                                                                                             General: Abnormal accumulation of lymph in the extremities; occurs from multiple causes. [...]
Alstrom disease (cataract and retinitis pigmentosa)
Alstrom Disease (Cataract and Retinitis Pigmentosa)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Retinal lesion associated with deafness; severe visual loss in the first decade. Ocular: Cataract; [...]
Ataxia, spastic, with congenital miosis
Ataxia, Spastic, with Congenital Miosis General: Autosomal dominant. Ocular: Congenital miosis; nystagmus; small, nonreacting pupils. Clinical: Symmetrical ataxia of gait and limb movement; dysarthria; late in walking; slurred speech; i [...]
Optic atrophy, nerve deafness
Optic Atrophy, Nerve Deafness                                                                                                               General: Autosomal recessive. Ocular: Degeneration of optic nerves. Clinical: Degeneration of t [...]
Angular conjunctivitis (morax-axenfeld bacillus)
Angular Conjunctivitis (Morax-Axenfeld Bacillus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by Moraxella lacunata, which frequently inhabits the nose. Ocular: Conjunctivitis; hypop [...]
Epidermal nevus syndrome (ichthyosis hystrix)
Epidermal Nevus Syndrome (Ichthyosis Hystrix)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: One or a combination of the following epidermal nevi described as nevus unius lateris, ichthyosis hystr [...]
Ophthalmoplegia, progressive external, with scrotal tongue and mental deficiency
Ophthalmoplegia, Progressive External, with Scrotal Tongue and Mental Deficiency                      General: Autosomal dominant. Ocular: Progressive external ophthalmoplegia; progressive chorioretinal sclerosis; bilateral ptosis; conv [...]
Cogan (2) syndrome (oculomotor apraxia syndrome; wieacker syndrome) 263
Cogan (2) Syndrome (Oculomotor Apraxia Syndrome; Wieacker Syndrome) &nbs [...]
Herpes simplex masquerade syndrome
Herpes Simplex Masquerade Syndrome                                                                                                 General: Acanthamoeba keratitis occurs in those who wear soft contact lenses daily; confused with herpes simp [...]
Sclerocornea 1
Sclerocornea                                                                                                                                            1 General: Autosomal dominant; feature of cornea a. Ocular: Malformation of cornea; ind [...]
Listerellosis (listeriosis)
Listerellosis (Listeriosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by Gram-positive bacillus Listeria monocytogenes. High mortality among pr [...]
Alcoholism
Alcoholism                                                                                                                                                       General: Classified into three groups; symptoms of mental disease, physiologic [...]
Debarsy syndrome 347
DeBarsy Syndrome [...]
Multiple lentigines syndrome (leopard syndrome)
Multiple Lentigines Syndrome (LEOPARD Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Familial occurrence; classic features include lentigines (small focal hyperpigmentations of skin), electrocardiog [...]
Partial trisomy 16q syndrome
Partial Trisomy 16q Syndrome                                                                                                                General: Partial trisomy 16q with chromosome banding; rare. Ocular: Narrow palpebral fissures; ant [...]
Meb disease (muscle-eye-brain disease) 7
MEB Disease (Muscle-Eye-Brain Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Autosomal recessive; possibly the same as Walker-Warburg syndrome. Ocular: Severe congenital myop [...]
Oguchi disease
Oguchi Disease                                                                                                                                          General: Autosomal recessive; usually Japanese; form of congenital hemeralopia; one form [...]
Lowe syndrome (oculo-cerebro-renal syndrome)
Lowe Syndrome (Oculo-Cerebro-Renal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Essential enzyme or protein abnormality is unknown; sex-linked recessive trait (male incidence only); onset in [...]
Saint anthony fire (erysipelas) 1
Saint Anthony Fire (Erysipelas)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Acute localized inflammation of the skin and subcutaneous tissue; erysipelas is a febrile i [...]
Irvine syndrome (irvine-gass syndrome; hruby-irvine-gass syndrome)
Irvine Syndrome (Irvine-Gass Syndrome; Hruby-Irvine-Gass Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Failing vision after uneventful cataract extraction; caused by spontaneous rupture of vitreous face with vitreous adhesions [...]
Tritanomalous color blindness (color blindness, partial tritanomaly) 1
Tritanomalous Color Blindness (Color Blindness, Partial Tritanomaly)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Sex-linked; rare; lacking blue and yellow sensory mechanisms while retaining those for red and green. Ocular: Blue- [...]
Palpebral coloboma-lipoma syndrome (nasopalpebral lipoma-coloboma)
Palpebral Coloboma-Lipoma Syndrome (Nasopalpebral Lipoma-Coloboma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; described in a Venezuelan family. Ocular: Coloboma of upper and lower lids at junction between their middle [...]
Ocular dominance
Ocular Dominance                                                                                                                                    General: Autosomal dominant; 97% of people with normal vision have a sighting-dominant eye; [...]
Mort d'amour syndrome (death of love syndrome)
Mort d'Amour Syndrome (Death of Love Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Sudden death during sexual intercourse. Ocular: Pupillary dilation. Clinical: Hypertension; arrhythmia; he [...]
Morquio syndrome (morquio-brailsford syndrome; brailsford-morquio dystrophy; familial osseous dystrophy; keratosulfaturia; mps iv; mucopolysaccharidosis iv; spondyloepiphyseal dysplasia; osteochondrodystrophia deformans; infantile hereditary chondrodysplasia; hereditary poly topic enchondral dysostosis; hereditary osteochondrodystrophy; eccentro-osteochondrodysplasia; dysostosis enchondralis meta- epiphysaria; morquio-ullrich syndrome; atypical chondrodystrophy; chondrodystrophia tarda; chondro-osteodystrophy)
Morquio Syndrome (Morquio-Brailsford Syndrome; Brailsford-Morquio Dystrophy; Familial Osseous Dystrophy; Keratosulfaturia; MPS IV; Mucopolysaccharidosis IV; Spondyloepiphyseal Dysplasia; Osteochondrodystrophia Deformans; Infantile Hereditary Chond [...]
Bang disease (brucellosis; malta fever; mediterranean fever; pig breeder disease; gibraltar fever; undulant fever)
Bang Disease (Brucellosis; Malta Fever; Mediterranean Fever; Pig Breeder Disease; Gibraltar  Fever; Undulant Fever) General: Transmitted to man from animals or animal products containing bacteria of the genus Brucella; human infection resul [...]
Leigh syndrome (subacute necrotizing encephalomyelopathy; infantile subacute necrotizing encephalomyelopathy; hyperpyruvicemia with hyper-alpha-alaninemia; gangliosidosis gm2 type 3)
Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy; Infantile Subacute Necrotizing Encephalomyelopathy; Hyperpyruvicemia with Hyper-Alpha-Alaninemia; Gangliosidosis GM2 Type 3)Â Â Â Â Â Â General: Autosomal recessive; metabolic disease oc [...]
Oculorenocerebellar syndrome (orc syndrome)
Oculorenocerebellar Syndrome (ORC Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive. Ocular: Progressive tapetoretinal degeneration with loss of retinal vessels. Clini [...]
Nieden syndrome (telangiectasia-cataract syndrome) 8
Nieden Syndrome (Telangiectasia-Cataract Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Etiology unknown; familial occurrence; onset from birth. Ocular: Sparse eyebrows; glaucoma; dyscoria; defec [...]
Ocular myopathy with curare sensitivity
Ocular Myopathy with Curare Sensitivity                                                                                              General: Autosomal recessive. Ocular: Static ophthalmoparesis. Clinical: Limb weakness; sensitivity to [...]
Paine syndrome
Paine Syndrome                                                                                                                                        General: Microcephaly-spastic diplegia; occurs only in males; onset from birth; sex-linked [...]
Beta-glucuronidase deficiency (mucopolysaccharidosis vii; mps vii) 142
Beta-Glucuronidase Deficiency (Mucopolysaccharidosis VII; MPS VII) &nb [...]
Anemia
Anemia                                                                                                                                                             General: Ocular complications generally only seen in severe anemia. Ocular: [...]
Guillain-barré syndrome (landry paralysis; acute infectious neuritis; acute polyradiculitis; acute febrile polyneuritis; acute idiopathic polyneuritis; inflammatory polyradiculoneuropathy; landry-guillain-barré-strohl syndrome; postinfectious polyneuritis)
Guillain-Barré Syndrome (Landry Paralysis; Acute Infectious Neuritis; Acute Polyradiculitis; Acute Febrile Polyneuritis; Acute Idiopathic Polyneuritis; Inflammatory Polyradiculoneuropathy; Landry-Guillain-Barré-Strohl Syndrome; Postinfectious Po [...]
Hyperlipoproteinemia
Hyperlipoproteinemia                                                                                                                               General: Metabolic disorder characterized by abnormally elevated concentrations of specific [...]
Coccidioidomycosis 259
Coccidioidomycosis &nbs [...]
Linear nevus sebaceus of jadassohn (nevus sebaceus of jadassohn; jadassohn-type anetoderma; organoid nevus syndrome; sebaceus nevus syndrome )
Linear Nevus Sebaceus of Jadassohn (Nevus Sebaceus of Jadassohn; Jadassohn-Type Anetoderma; Organoid Nevus syndrome; Sebaceus nevus syndrome )Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Skin nevus caused [...]
Kuru syndrome (laughing death)
Kuru Syndrome (Laughing Death)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Restricted to Fore tribe of eastern New Guinea; prevalent in children and adult women; etiology [...]
Felty syndrome (chauffard-still syndrome; primary splenic neutropenia with arthritis; rheumatoid arthritis with hypersplenism; still-chauffard syndrome; uveitis-rheumatoid arthritis syndrome) 4
Felty Syndrome (Chauffard-Still Syndrome; Primary Splenic Neutropenia with Arthritis; Rheumatoid Arthritis with Hypersplenism; Still-Chauffard Syndrome; Uveitis-Rheumatoid Arthritis Syndrome) 4 General: Etiology not fully understood, possibl [...]
Kohn-romano syndrome (bpes syndrome) 6
Kohn-Romano Syndrome (BPES Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Autosomal dominant transmittance; tetrad with telecanthus, ptosis, epicanthus inversus, and blepharophimos [...]
Sphenomaxillary fossa syndrome (pterygopalatine fossa syndrome)
Sphenomaxillary Fossa Syndrome (Pterygopalatine Fossa Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Malignant tumor, second division of which involves the sphenopalatine fossa, causing paralysis of cranial nerve V; similar [...]
Facio-scapulo-humeral muscular dystrophy (fsh muscular dystrophy)
Facio-Scapulo-Humeral Muscular Dystrophy (FSH Muscular Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant disorder; onset varies from infancy to old age; severity varies from scarcely detectable to incapacitating [...]
Fanconi syndrome (toni-fanconi syndrome; amino diabetes; hypochloremic-glycosuric osteonephropathy syndrome; de toni-fanconi syndrome)
Fanconi Syndrome (Toni-Fanconi Syndrome; Amino Diabetes; Hypochloremic-Glycosuric Osteonephropathy Syndrome; De Toni-Fanconi Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive inheritance; [...]
Menkes (2) syndrome (kinky hair syndrome) 7
Menkes (2) Syndrome (Kinky Hair Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 General: Etiology unknown; sex-linked recessive neurodegenerative disorder; focal cerebral and cerebellar degener [...]
Glaucoma with elevated episcleral venous pressures
Glaucoma with Elevated Episcleral Venous Pressures                                                                          General: Autosomal dominant. Ocular: Open-angle glaucoma; elevated episcleral venous pressure; dilated episcleral [...]
Nager syndrome (nager acrofacial dyostosis)
Nager Syndrome (Nager Acrofacial Dyostosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare congenital syndrome characterized by mandibulofacial dyostosis with associated radial defects. [...]
Harlequin syndrome (bullous ichthyosiform erythroderma; collodion baby; congenital ichthyosis; epidermolytic hyperkeratosis; ichthyosis; ichthyosis vulgaris; lamellar ichthyosis; nonbullous ichthyosiform erythroderma; xeroderma; x-linked ichthyosis)
Harlequin Syndrome (Bullous Ichthyosiform Erythroderma; Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis Vulgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosi [...]
Saldino-mainzer syndrome
Saldino-Mainzer Syndrome                                                                                                                   General: Autosomal recessive; Leber congenital amaurosis associated with familial juvenile nephronoph [...]
Desert lung and cataract syndrome 362
Desert Lung and Cataract Syndrome & [...]
Aniridia and absent patella
Aniridia and Absent Patella                                                                                                                           General: Autosomal dominant; rare. Ocular: Absence of iris; cataracts; glaucoma. Clin [...]
Protein c deficiency
Protein C Deficiency                                                                                                                               General: Autosomal recessive; congenital; heterozygous individuals predisposed to recurrent v [...]
Bullous ichthyosiform erythroderma (collodion baby; congenital ichthyosis; epidermolytic hyperkeratosis; ichthyosis; ichthyosis vulgaris; lamellar ichthyosis; nonbullous ichthyosiform erythroderma; xeroderma; x-linked ichthyosis) 182
Bullous Ichthyosiform Erythroderma (Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis Vulgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosis) [...]
Gout (hyperuricemia)
Gout (Hyperuricemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Genetic disease of purine metabolism and renal excretion of uric acid. Ocular: Conj [...]
Ophthalmoplegic migraine syndrome
Ophthalmoplegic Migraine Syndrome                                                                                                    General: Symptoms produced by ipsilateral herniation of hippocampal gyrus of temporal lobe through incisura [...]
Marcus gunn syndrome (jaw-winking syndrome; congenital trigeminooculomotor synkinesis)
Marcus Gunn Syndrome (Jaw-Winking Syndrome; Congenital Trigeminooculomotor Synkinesis) General: Familial occurrence rare, although dominant inheritance has been reported; symptoms caused by abnormal connections between external pterygoid m [...]
Cystic fibrosis syndrome (fibrocystic disease of pancreas) 339
Cystic Fibrosis Syndrome (Fibrocystic Disease of Pancreas) & [...]
Rhinoscleroma (klebsiella rhinoscleromatis)
Rhinoscleroma (Klebsiella Rhinoscleromatis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic granulomatous disease; Gram-negative bacillus; cicatricial deformities; chronic progressive gr [...]
Paragonimiasis (distomiasis; endemic hemoptysis)
Paragonimiasis (Distomiasis; Endemic Hemoptysis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chronic lung infection; causative agent is Paragonimus trematode; transmitted by eating undercooked crabs [...]
Pallister-killian syndrome (pks; mosaic tetrasomy)
Pallister-Killian Syndrome (PKS; Mosaic Tetrasomy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Variable condition caused by a mosaic tetrasomy of chromosome 12p. Ocular: Reported manifestations includ [...]
Arylsulfatase a deficiency
Arylsulfatase A Deficiency (Metachromatic Leukodystrophy; Sulfatide Lipoidosis Syndrome;  Greenfield Disease; Scholz Syndrome; Scholz-Bielschowsky-Henneberg Syndrome; Van  Bogaert-Nyssen Disease;  Van Bogaert-Nyssen-Peiffer Disease; Familial Progr [...]
Scheie syndrome (mucopolysaccharidosis is; mps is; mps v; mucopolysaccharidosis v)
Scheie Syndrome (Mucopolysaccharidosis IS; MPS IS; MPS V; Mucopolysaccharidosis V)Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; chondroitin sulfate B excreted in excess in the urine; formerly MPS V (see Hurler Syndrome; Hunter Syndrome; Sanfilip [...]
Spinocerebellar degeneration and corneal dystrophy (corneal cerebellar syndrome; corneal dystrophy with spinocerebellar degeneration)
Spinocerebellar Degeneration and Corneal Dystrophy (Corneal Cerebellar Syndrome; Corneal Dystrophy with Spinocerebellar Degeneration)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gene [...]
Granuloma annulare
Granuloma Annulare                                                                                                                               General: Benign; self-limited dermatosis; etiology unknown but reported to follow insect bites, [...]
Morning glory syndrome (hereditary central glial anomaly of the optic disk)
Morning Glory Syndrome (Hereditary Central Glial Anomaly of the Optic Disk)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: No hereditary factor; rare; anomaly of optic disk with deep excavation resembling the flower for which syndrome is named. Oc [...]
Spina bifida (rachischisis)
Spina Bifida (Rachischisis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Defect of the bony spinal canal without defect of cord or meninges; myelocele sac conta [...]
Xanthism (rufous albinism)
Xanthism (Rufous Albinism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; occurs in blacks. Ocular: Lack of color in iris. Clinical: Bright [...]
Hemifacial microsomia syndrome (unilateral facial agenesis; otomandibular dysostosis; francois-haustrate syndrome)
Hemifacial Microsomia Syndrome (Unilateral Facial Agenesis; Otomandibular Dysostosis; Francois-Haustrate Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Laron syndrome
Laron Syndrome                                                                                                                                       General: Autosomal recessivel; insulinelike growth factor I hormone resistance Ocular: M [...]
Krause syndrome (congenital encephalo-ophthalmic dysplasia; encephalo-ophthalmic syndrome) 6
Krause Syndrome (Congenital Encephalo-Ophthalmic Dysplasia; Encephalo-Ophthalmic Syndrome) 6 General: No hereditary factors involved; no predilection for either sex; more frequent in premature infants; death frequently from intercurrent infe [...]
Parinaud oculoglandular syndrome (parinaud conjunctiva-adenitis syndrome; catscratch oculoglandular syndrome; catscratch disease; bartonella henselae)
Parinaud Oculoglandular Syndrome (Parinaud Conjunctiva-Adenitis Syndrome; Catscratch Oculoglandular Syndrome; Catscratch Disease; Bartonella henselae)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Most frequently seen in childre [...]
Oculo-osteocutaneous syndrome
Oculo-Osteocutaneous Syndrome                                                                                                            General: Autosomal recessive. Ocular: Strabismus; myopia; distichiasis; nystagmus; lenticular opaciti [...]
Acute follicular conjunctivitis (adenoviral conjunctivitis; pharyngoconjunctival fever; syndrome of beal)
Acute Follicular Conjunctivitis (Adenoviral Conjunctivitis; Pharyngoconjunctival Fever; Â Syndrome of Beal)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Topless optic disk syndrome
Topless Optic Disk Syndrome                                                                                                                General: Superior segmental optic hypoplasia. Ocular: Relative superior entrance of the central ret [...]
Savin syndrome 1
Savin Syndrome                                                                                                                                      1 General: Congenital ichthyosis combined with urticarial manifestations. Ocular: Nodular t [...]
Blepharophimosis syndrome 155
Blepharophimosis Syndrome &nb [...]
Nystagmus blockage syndrome (nbs) 8
Nystagmus Blockage Syndrome (NBS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome Secondary; Nystagmus Compensation Syndrome [...]
Cystinuria 341
Cystinuria [...]
West syndrome (massive myoclonia; jackknife convulsion) 1
West Syndrome (Massive Myoclonia; Jackknife Convulsion)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Brain damage from trauma, anoxia, degenerative and metabolic factors and infective agents; onset in first year of [...]
E
E Eales Disease (Periphlebitis) [...]
Glucagonoma syndrome
Glucagonoma Syndrome                                                                                                                          General: Alpha-cell islet tumor of pancreas with retrobulbar neuritis first sign and necrolytic mi [...]
Histoplasmosis (histoplasmosis choroiditis; histoplasmosis maculopathy; presumed ocular histoplasmosis syndrome) 5
Histoplasmosis (Histoplasmosis Choroiditis; Histoplasmosis Maculopathy; Presumed Ocular Histoplasmosis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 Gener [...]
Grouped pigmentation of the macula
Grouped Pigmentation of the Macula                                                                                                     General: Autosomal recessive. Ocular: Grouped pigmentation limited to foveal area; metamorphopsia; pigm [...]
Facio-oculo-acoustico-renal syndrome
Facio-Oculo-Acoustico-Renal Syndrome                                                                                                General: Autosomal recessive. Ocular: Congenital myopia; undeveloped filtration angle; persistent pupillar [...]
Lecithin-cholesterol acyltransferase (lcat) deficiency
Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency                                                                    General: LCAT enzyme involved in metabolism of cholesterol deficiency; autosomal recessive; rare. Ocular: Cloudy co [...]
Harboyan syndrome (congenital corneal dystrophy and sensorineural hearing loss; maumenee syndrome; corneal dystrophy, congenital hereditary endothelial)
Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothelial)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosoma [...]
Moynahan syndrome (xte; xeroderma, talipes, and enamel defect)
Moynahan Syndrome (XTE; Xeroderma, Talipes, and Enamel Defect)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant inheritance; xeroderma, talipes, and enamel defect. Ocular: Absence of eyelashes of lower lid. Clin [...]
Kenny syndrome 6
Kenny Syndrome                                                                                                                                      6 General: Congenital syndrome. Ocular: Nanophthalmos with hyperopia; papilledema; vascular [...]
X-linked cone dysfunction syndrome
X-Linked Cone Dysfunction Syndrome                                                                                               General: X-linked pattern of inheritance; stationary cone dysfunction Ocular: Myopia; visual loss; color vis [...]
Pediculosis and phthiriasis
Pediculosis and Phthiriasis                                                                                                                       General: Infestation of lice on head, body, or pubic area. Ocular: Conjunctivitis; keratitis [...]
Trachoma 1
Trachoma                                                                                                                                                1 General: Most common in rural communities of the Middle East, Africa, Asia, and South a [...]
Galactosyl ceramide lipidosis (krabbe [1] syndrome; infantile globoid cell leukodystrophy; krabbe disease; globoid cell leukodystrophy) 4
Galactosyl Ceramide Lipidosis (Krabbe [1] Syndrome; Infantile Globoid Cell Leukodystrophy; Krabbe Disease; Globoid Cell Leukodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 Genera [...]
Ehlers-danlos syndrome (fibrodysplasia elastica generalisata; cutis hyperelastica; meekeren-ehlers-danlos syndrome; indian rubber man syndrome; cutis laxa) 400
Ehlers-Danlos Syndrome (Fibrodysplasia Elastica Generalisata; Cutis Hyperelastica; Meekeren-Ehlers-Danlos Syndrome; Indian Rubber Man Syndrome; Cutis Laxa) & [...]
Congenital retinal nonattachment with mental retardation, osteoporosis, and hypotonia 285
Congenital Retinal Nonattachment with Mental Retardation, Osteoporosis, and Hypotonia 285 General: Autosomal recessive; well-demarcated entity; affects both males and [...]
Dragged-fovea diplopia syndrome 386
Dragged-Fovea Diplopia Syndrome &nb [...]
Keratodermia palmaris et plantaris (palmoplantar keratodermia; keratosis palmoplantaris)
Keratodermia Palmaris Et taris (Palmotar Keratodermia; Keratosis Palmotaris)Â Â Â Â Â Â General: Autosomal recessive; hereditary disorder; diffuse or focal thickening of the palms and soles. Ocular: Hyperkeratosis of lid and cornea; ectro [...]
Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria)
Hyperkalemic Familial Periodic Paralysis (Adynamia Episodica Hereditaria)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Recurrent paralysis of skeletal muscles; occurs by age 10 years; usually occurs during the day when patient is sitting in [...]
Oculo-osteocutaneous syndrome
Oculo-Osteocutaneous Syndrome                                                                                                            General: Autosomal recessive. Ocular: Strabismus; myopia; distichiasis; nystagmus; lenticular opaciti [...]
Hemeralopia 5
Hemeralopia                                                                                                                                              5 General: Autosomal dominant. Ocular: Complete loss of the outer quadrant of visual f [...]
Klinefelter syndrome (gynecomastia-aspermatogenesis syndrome; xxy syndrome; xxxy syndrome; xxyy syndrome; reifenstein-albright syndrome) 6
Klinefelter Syndrome (Gynecomastia-Aspermatogenesis Syndrome; XXY Syndrome; XXXY Syndrome; XXYY Syndrome; Reifenstein-Albright Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Occurrence in 1% [...]
Ophthalmoplegic retinal degeneration syndrome (barnard-scholz syndrome)
Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Onset at all ages (see Kearns-Sayre Syndrome). Ocular: Unilateral or bilateral progressive weakness of muscles of eyelids, u [...]
Klippel- trenaunay-weber syndrome (parkes-weber syndrome; angio-osteo-hypertrophy syndrome) 6
Klippel- Trenaunay-Weber Syndrome (Parkes-Weber Syndrome; Angio-Osteo-Hypertrophy Syndrome)Â Â 6 General: Most frequently inherited as irregular dominant; however, reported to be recessive with parent consanguinity; association of Klippel-Tre [...]
Renal transplantation
Renal Transtation                                                                                                                            General: Ocular complication due to systemic immunosuppressive drugs used to prevent rejection of t [...]
Neurilemoma (schwannoma; neurinoma)
Neurilemoma (Schwannoma; Neurinoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Slow-growing encapsulated neoplasm from the Schwann cells of nerves; seen most frequently with patients [...]
Slit ventricle syndrome 1
Slit Ventricle Syndrome                                                                                                                          1 General: Self limited episodes of shunt malfunction associated with a small or unchanged ventr [...]
Pancoast syndrome (hare syndrome; superior pulmonary sulcus syndrome)
Pancoast Syndrome (Hare Syndrome; Superior Pulmonary Sulcus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Mass occupying lesion in pulmonary apex; erosion of first three ribs frequent; primary bronchogenic carcinoma most frequent cause [...]
Oculocerebral syndrome with hypopigmentation (amish oculocerebral syndrome; cross syndrome)
Oculocerebral Syndrome with Hypopigmentation (Amish Oculocerebral Syndrome; Cross Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Aut [...]
Fusobacterium 4
Fusobacterium                                                                                                                                           4 General: Gram-negative; normal inhabitant of mouth and respiratory, intestinal, and uro [...]
Parotid aplasia or hypoplasia (salivary gland absence; lacrimal puncta absence)
Parotid Aplasia or Hypoplasia (Salivary Gland Absence; Lacrimal Puncta Absence)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Lacrimal gland aplasia; absence or severe dysfunction of lacrimal glands. Clinical: Aplasia of [...]
Shy-gonatas syndrome 1
Shy-Gonatas Syndrome                                                                                                                          1 General: Unknown etiology; similar to Hunter and Refsum syndromes; accumulation of lipids in musc [...]
Haney-falls syndrome (congenital keratoconus posticus circumscriptus syndrome) 5
Haney-Falls Syndrome (Congenital Keratoconus Posticus Circumscriptus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Etiology unknown; autosomal dominant or recessive. Ocular: Hypertelorism (mild); lateral canthi are displaced upward; myopic ast [...]
Myopia-ophthalmoplegia syndrome
Myopia-Ophthalmoplegia Syndrome                                                                                                      General: Sex-linked; characteristics seen in males; carried by females. Ocular: Ptosis; myopia; complete [...]
Bee sting of the eye (bee sting of the cornea) 132
Bee Sting of the Eye (Bee Sting of the Cornea) [...]
Cardiac myxomas 198
Cardiac Myxomas & [...]
Benjamin-allen syndrome 138
Benjamin-Allen Syndrome [...]
Nonne-milroy-meige disease (chronic hereditary lymphedema; milroy disease; meige disease; meige-milroy syndrome; nonne-milroy syndrome; chronic hereditary edema; chronic hereditary trophedema; chronic trophedema; elephantiasis congenita hereditaria; familial hereditary edema; hereditary edema; idiopathic hereditary lymphedema; pseudoedematous hypodermal hypertrophy; pseudoelephantiasis neuroarthritica; oromandibular dystonia; blepharospasm-oromandibular dystonia; congenital trophedema; tropholymphedema; trophoneurosis; elephantiasis arabum congenita) 8
Nonne-Milroy-Meige Disease (Chronic Hereditary Lymphedema; Milroy Disease; Meige Disease; Meige-Milroy Syndrome; Nonne-Milroy Syndrome; Chronic Hereditary Edema; Chronic Hereditary Trophedema; Chronic Trophedema; Elephantiasis Congenita Hereditar [...]
A exotropia syndrome
A Exotropia Syndrome                                                                                                                                   Exotropia greater looking down by 15 prism diopters than looking up; mongoloid (upward) s [...]
Congenital dyslexia syndrome (developmental dyslexia of critchley; congenital word blindness of hermann; primary dyslexia; dyslexia syndrome; minimal brain dysfunction syndrome; attention deficit disorder; congenital word blindness) 279
Congenital Dyslexia Syndrome (Developmental Dyslexia of Critchley; Congenital Word Blindness of Hermann; Primary Dyslexia; Dyslexia Syndrome; Minimal Brain Dysfunction Syndrome; Attention Deficit Disorder; Congenital Word Blindness)&n [...]
Rendu-osler syndrome (rendu-osler- weber syndrome; hereditary hemorrhagic telangiectasis; babington disease; goldstein hematemesis; osler syndrome [2])
Rendu-Osler Syndrome (Rendu-Osler- Weber Syndrome; Hereditary Hemorrhagic Telangiectasis; Babington Disease; Goldstein Hematemesis; Osler Syndrome [2])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiolog [...]
Multiple sulfatase deficiency
Multiple Sulfatase Deficiency                                                                                                                   General: Autosomal recessive Ocular Congenital peripheral cataract; retinal degeneration; che [...]
Hemolytic anemia of newborns (icterus gravis neonatorum; erythroblastosis fetalis)
Hemolytic Anemia of Newborns (Icterus Gravis Neonatorum; Erythroblastosis Fetalis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rh-positive/negative infant carried by an Rh-positive/negative mother; isoimmunization of the mother by her fetus of different blo [...]
K
K Kabuki Makeup Syndrome (Niikawa-Kuroki Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Etiology unknown; originally termed Kabuki makeup syndrome because dysmorphic facies resembled the sty [...]
Reticular pigmentary retinal dystrophy of posterior pole (sjögren disease)
Reticular Pigmentary Retinal Dystrophy of Posterior Pole (Sjögren Disease)                                  General: Autosomal recessive; characterized by peculiar network of black-pigmented lines in posterior pole of retina. Ocular: Fi [...]
Cebocephalia 217
Cebocephalia &nbs [...]
Mirror image syndrome (autoscopic syndrome; lukianowicz phenomenon)
Mirror Image Syndrome (Autoscopic Syndrome; Lukianowicz Phenomenon)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Patient's delusion that he or she is seeing a double of himself or herself; seen in patients with schizophrenia, epilepsy, migr [...]
Incipient prechiasmal optic nerve compression syndrome
Incipient Prechiasmal Optic Nerve Compression Syndrome                                                                General: Caused by an expansive prechiasmal tumor or other lesion slowly compressing the optic nerve; frequently unilatera [...]
Oculodental syndrome (peters syndrome; rutherford syndrome)
Oculodental Syndrome (Peters Syndrome; Rutherford Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Similar to Rieger syndrome and Meyer-Schwickerath-Weyer syndrome; Peters syndrome inherited as autosomal recessive with [...]
Fetal hydantoin syndrome 4
Fetal Hydantoin Syndrome                                                                                                                      4 General: Syndrome due to an epoxide hydrolase 1, microsomal, arene oxide detoxification defect. [...]
Diamond blackfan syndrome 366
Diamond Blackfan Syndrome &nb [...]
Thyrocerebroretinal syndrome (familial thyrocerebral retinal syndrome) 1
Thyrocerebroretinal Syndrome (Familial Thyrocerebral Retinal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Autosomal recessive; renal, neurologic, and thyroid disease. Ocular: Retinal hemorrhages; central vision defect; retinal ed [...]
X-linked mental retardation syndrome (xlmr)
X-Linked Mental Retardation Syndrome (XLMR)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: X-linked mental retardation syndrome, of which many types may exist. Ocular: Glaucoma may be found in some pa [...]
Von bekhterev-strumpell syndrome (marie-strumpell spondylitis; ankylosing spondylitis; pierre-marie syndrome; bekhterev disease; rheumatoid spondylitis) 1
Von Bekhterev-Strumpell Syndrome (Marie-Strumpell Spondylitis; Ankylosing Spondylitis; Pierre-Marie Syndrome; Bekhterev Disease; Rheumatoid Spondylitis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Variant of rheumatoid arthritis; [...]
Infantile type of neuronal ceroid lipofuscinosis (ceroid lipofuscinosis; hagberg-santavuori syndrome; haltia-santavuori syndrome; santavuori-haltia syndrome)
Infantile Type of Neuronal Ceroid Lipofuscinosis (Ceroid Lipofuscinosis; Hagberg-Santavuori Syndrome; Haltia-Santavuori Syndrome; Santavuori-Haltia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Age of onset 8 to 18 months; [...]
Leber hereditary optic neuropathy (optic atrophy amaurosis; pituitary syndrome; leber syndrome)
Leber Hereditary Optic Neuropathy (Optic Atrophy Amaurosis; Pituitary Syndrome; Leber Syndrome)Â Â Â General: Male preponderance; in acute phase of neuropathy there are three characteristic fundus changes: circumpapillary micro angiopathy, ps [...]
Zieve syndrome (hyperlipemia-hemolytic anemia-icterus syndrome)
Zieve Syndrome (Hyperlipemia-Hemolytic Anemia-Icterus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Unknown etiology; pancreatitis; prevalent in middle-aged males with history of recent alcohol intake; insidious onset. O [...]
Blatt syndrome (cranio-orbito-ocular dysraphia) 152
Blatt Syndrome (Cranio-Orbito-Ocular Dysraphia) [...]
Corneal dystrophy, meesmann epithelial (meesmann epithelial dystrophy of cornea) 301
Corneal Dystrophy, Meesmann Epithelial (Meesmann Epithelial Dystrophy of Cornea) 301 General: Autosomal dominant; rare; onset firs [...]
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria                                        General: Autosomal recessive. Ocular: Ptosis; external ophthalmoplegia. Clinical: Involvement of cranial nerves and skeletal mus [...]
Reticulum cell sarcoma (non-hodgkin lymphoma)
Reticulum Cell Sarcoma (Non-Hodgkin Lymphoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; large-cell lymphoma with chronic inflammation with a predominance of cells in vitreous cavit [...]
Blau syndrome 153
Blau Syndrome &nb [...]
Stargardt disease (juvenile macular degeneration)
Stargardt Disease (Juvenile Macular Degeneration)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Onset between ages 8 and 14 years; variable appearance in different families. Ocular: Heredomacular dyst [...]
Coloboma of macula with type b brachydactyly (apical dystrophy) 266
Coloboma of Macula with Type B Brachydactyly (Apical Dystrophy) &n [...]
Streptococcus (scarlet fever)
Streptococcus (Scarlet Fever)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Gram-positive bacteria that can invade any tissue. Ocular: Conjunctivitis; corneal ul [...]
J
J Jabs Syndrome (Synovitis, Granulomatous Uveitis, and Cranial Neuropathies)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Granulomatous uveitis; iritis; sixth nerve palsy. Clinical: Granulomatous syno [...]
Amendola syndrome
Amendola Syndrome                                                                                                                                      General: Observed in Sao Paulo, Brazil; all ethnic groups are affected; endemic form of [...]
Hysteria (malingering; ophthalmic flake syndrome)
Hysteria (Malingering; Ophthalmic Flake Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Willful or unwillful exaggeration or simulation of symptoms of an illness without physiologic cause; frequen [...]
Refsum syndrome (heredopathia atactica polyneuritiformis syndrome; phytanic acid oxidase deficiency; phytanic acid storage disease; refsum-thiebaut syndrome)
Refsum Syndrome (Heredopathia Atactica Polyneuritiformis Syndrome; Phytanic Acid Oxidase Deficiency; Phytanic Acid Storage Disease; Refsum-Thiebaut Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; disorder of [...]
Benedikt syndrome (tegmental syndrome) 136
Benedikt Syndrome (Tegmental Syndrome) &n [...]
Martsolf syndrome
Martsolf Syndrome                                                                                                                                   General: Autosomal recessive; rare; cardiac abnormalities. Ocular: Cataracts. Clinical: [...]
Criswick-schepens syndrome (familial exudative vitreoretinopathy) 323
Criswick-Schepens Syndrome (Familial Exudative Vitreoretinopathy) [...]
Skew deviation syndrome (hertwig-magendie syndrome) 1
Skew Deviation Syndrome (Hertwig-Magendie Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Vascular deficiency involving the brainstem and middle cerebral peduncle; observed after encephalitis, tumors of the [...]
Gapo syndrome (growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome)
GAPO Syndrome (Growth Retardation, Alopecia, Pseudoanodontia, Optic Atrophy Syndrome)Â Â General: Autosomal recessive. Ocular: Progressive optic atrophy; glaucoma; keratoconus. Clinical: Growth retardation; alopecia; pseudoanodontia; fr [...]
Knobloch syndrome 6
Knobloch Syndrome                                                                                                                                 6 General: Autosomal recessive; retinal detachment with occipital encephalocele. Ocular: High [...]
Riley-day syndrome (congenital familial dysautonomia)
Riley-Day Syndrome (Congenital Familial Dysautonomia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; occurs in Ashkenazi Jewish population; impaired catechol metabolism; manifested in first few [...]
Klein syndrome 6
Klein Syndrome                                                                                                                                        6 General: Autosomal dominant; belongs to the group of iridodermatoauditive dysplasias. [...]
Jacobs syndrome (triple x syndrome; xxx syndrome; super female syndrome)
Jacobs Syndrome (Triple X Syndrome; XXX Syndrome; Super Female Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by sex chromosomal anomaly with 44 autosomal and 3X sex chromosomes; due to nondisjunction; often associated with autosomal tri [...]
Melnick-needles syndrome (osteodysplasty)
Melnick-Needles Syndrome (Osteodysplasty)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Bone dysplasia; fewer than 30 cases reported; familial congenital autosomal trait; affect both sexes; [...]
Tic douloureux (trigeminal neuralgia) 1
Tic Douloureux (Trigeminal Neuralgia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Brief, sharp, unilateral facial pain that usually occurs in the middle or lower face; occurs more [...]
Retroparotid space syndrome (villaret syndrome; posterior retroparotid space syndrome)
Retroparotid Space Syndrome (Villaret Syndrome; Posterior Retroparotid Space Syndrome)Â Â Â Â Â General: Lesions (traumatic, inflammatory, tumors) involving cranial nerves IX to XII and the cervical sympathetic (see Jugular Foramen Syndrome [Ve [...]
Oxalosis (primary hyperoxaluria; lepoutre syndrome)
Oxalosis (Primary Hyperoxaluria; Lepoutre Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive and acquired forms; metabolic disorders with accumulation of oxalic acid in tissues; type [...]
Optic atrophy with demyelinating disease of cns
Optic Atrophy with Demyelinating Disease of CNSÂ Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; demyelinated optic nerves appear smaller than normal and are pale white or gray in col [...]
Multiple lentigines syndrome (leopard syndrome)
Multiple Lentigines Syndrome (LEOPARD Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Familial occurrence; classic features include lentigines (small focal hyperpigmentations of skin), electrocardiog [...]
Carcinoid syndrome 197
Carcinoid Syndrome &nbs [...]
Hypoproteinemia syndrome (plurideficiency syndrome; kwashiorkor syndrome; malnutrition syndrome)
Hypoproteinemia Syndrome (plurideficiency Syndrome; Kwashiorkor Syndrome; Malnutrition Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Axenfeld-rieger syndrome (posterior embryotoxon; axenfeld syndrome)
Axenfeld-Rieger Syndrome (Posterior Embryotoxon; Axenfeld Syndrome) General: Dominant inheritance; occasionally sporadic; variable in expression. Ocular: Posterior embryotoxon: ringlike opacity of cornea; long trabecula; prominent Schwal [...]
Axenfeld-schurenberg syndrome (cyclic oculomotor paralysis)
Axenfeld-Schurenberg Syndrome (Cyclic Oculomotor Paralysis) General: Congenital manifestation; frequently unilateral. Ocular: Cyclic oculomotor paralysis (paralysis alternating with spasm); during periods of paralysis, lid exhibits ptosi [...]
Parinaud syndrome (divergence paralysis; subthalamic syndrome; paralysis of vertical movements; pretectal syndrome)
Parinaud Syndrome (Divergence Paralysis; Subthalamic Syndrome; Paralysis of Vertical Movements; Pretectal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Variou [...]
Simmonds syndrome (hypopituitarism syndrome)
Simmonds Syndrome (Hypopituitarism Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Anterior pituitary gland destroyed by various causes, such as hemorrhage, infarction, injuries, or postparturit [...]
Hyperpigmentation of eyelids
Hyperpigmentation of Eyelids                                                                                                                 General: Autosomal dominant; causes may include drugs, sun, or too little adrenaline. Ocular: Un [...]
Chronic granulomatous disease of childhood 249
Chronic Granulomatous Disease of Childhood &nbs [...]
Cytomegalic inclusion disease (cytomegalovirus; congenital cytomegalic inclusion disease) 342
Cytomegalic Inclusion Disease (Cytomegalovirus; Congenital Cytomegalic Inclusion Disease) 342 General: Cytomegalovirus passes transplacentally from an asymptomatic mother to fetus. [...]
Mumps
Mumps                                                                                                                                                       General: Viral infection. Ocular: Conjunctivitis; keratitis; corneal ulcer; tenoni [...]
Q
Q Q Fever                                                                                                                                                    General: Acute rickettsial infection caused by Coxiella burnetii; at lea [...]
Kasabach-merritt syndrome (capillary angioma-thrombocytopenia; hemangioma-thrombocytopenia; thrombocytopenia purpura-hemangioma) 6
Kasabach-Merritt Syndrome (Capillary Angioma-Thrombocytopenia; Hemangioma-Thrombocytopenia; Thrombocytopenia Purpura-Hemangioma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 6 General: Angioma ca [...]
Melas syndrome 7
MELAS Syndrome                                                                                                                                   7 General: Changing of threonine at amino acid 109 to an alanine; A3245G mitochondrial DNA point [...]
Miller syndrome (postaxial acrofacial dysostosis; genee-wiedemann syndrome)
Miller Syndrome (Postaxial Acrofacial Dysostosis; Genee-Wiedemann Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Cause unknown; sporadic and familial cases known as Genee-Wiedemann Syndrome. Ocular: Ectropion. Clinical: Malar hypoplasia [...]
Congenital cataract, microcornea, abnormal irides, nystagmus, and congenital glaucoma syndrome 277
Congenital Cataract, Microcornea, Abnormal Irides, Nystagmus, and Congenital Glaucoma Syndrome 277 General: Autosomal dominant. Ocular: Microphakia; cataract with two concentric disks, with t [...]
Lymphangioma
Lymphangioma                                                                                                                                         General: Poorly circumscribed infiltrating lesions consisting of lymphatics/dysplastic bloo [...]
Meshers macroreticular dystrophy of retinal pigment epithelium (butterfly-shaped dystrophy of retinal pigment epithelium) 7
Meshers Macroreticular Dystrophy of Retinal Pigment Epithelium (Butterfly-Shaped Dystrophy of Retinal Pigment Epithelium)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 [...]
Von economo syndrome (encephalitis lethargica; sleeping sickness; iceland disease) 1
Von Economo Syndrome (Encephalitis Lethargica; Sleeping Sickness; Iceland Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Etiology not understood; may be caused by filterable virus; both sexes affected; onset at all ages; epidemic form. Ocular: Nysta [...]
Behr syndrome (optic atrophy ataxia syndrome) 134
Behr Syndrome (Optic Atrophy Ataxia Syndrome) & [...]
Crowded disc syndrome (bilateral choroidal folds and optic neuropathy) 328
Crowded Disc Syndrome (Bilateral choroidal folds and optic neuropathy) & [...]
Pfeiffer syndrome
Pfeiffer Syndrome                                                                                                                                    General: Congenital craniosynostotic syndrome with a high rate of mortality shortly after b [...]
Terson syndrome (subarachnoid hemorrhage syndrome) 1
Terson Syndrome (Subarachnoid Hemorrhage Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Spontaneous rupture of aneurysm or traumatic intracerebral hemorrhage; onset at all ages. Ocular: Weakness of extr [...]
Endocarditis
Endocarditis                                                                                                                                              General: Common in people with arteriosclerosis; subacute form leads to pyemia; bacter [...]
Psoriatic arthritis
Psoriatic Arthritis                                                                                                                                    General: Chronic skin disease of unknown etiology; both sexes affected; onset at any age; [...]
Arndt-gottron syndrome (scleromyxedema)
Arndt-Gottron Syndrome (Scleromyxedema)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown; rare cutaneous disease of hyaluronic acid deposits in dermis; variant of lichen [...]
Hypertension
Hypertension                                                                                                                                             General: Elevated blood pressure. Ocular: Retinal arterial narrowing; arteriosclerosi [...]
Basal cell nevus syndrome (nevoid basal cell carcinoma syndrome; nevoid basalioma syndrome; gorlin syndrome; gorlin-goltz syndrome; multiple basal cell nevi syndrome) 124
Basal Cell Nevus Syndrome (Nevoid Basal Cell Carcinoma Syndrome; Nevoid Basalioma Syndrome; Gorlin Syndrome; Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi Syndrome) 124 [...]
Chlamydia (inclusion conjunctivitis; paratrachoma) 237
Chlamydia (Inclusion Conjunctivitis; Paratrachoma) &n [...]
Autoimmunologically mediated syndrome
Autoimmunologically Mediated Syndrome (Lymphocytic Hypophysitis Associated with Dacryoadenitis Syndrome) General: Lymphocytes infiltrate the hypophysis. Ocular: Dacryoadenitis. Clinical: Lymphocytic infiltration of the hypophysis by CD3 [...]
Eaton-lambert syndrome (myasthenic syndrome; ocular myoclonus syndrome; myoclonic syndrome) 396
Eaton-Lambert Syndrome (Myasthenic Syndrome; Ocular Myoclonus Syndrome; Myoclonic Syndrome) &nbs [...]
Duck-bill lips and ptosis 391
Duck-Bill Lips and Ptosis &nb [...]
Exfoliation syndrome (capsular exfoliation syndrome)
Exfoliation Syndrome (Capsular Exfoliation Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Only in men older than 60 years. Ocular: Iridodonesis; rubeosis iridis; cataract; phacodonesis; dislocated l [...]
Optic atrophy, juvenile (optic atrophy, congenital; kjer-type optic atrophy; optic atrophy, kjer-type; oak syndrome [optic atrophy, kjer type])
Optic Atrophy, Juvenile (Optic Atrophy, Congenital; Kjer-Type Optic Atrophy; Optic Atrophy, Kjer-Type; OAK Syndrome [Optic Atrophy, Kjer Type])Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; [...]
Myopia, infantile severe
Myopia, Infantile Severe                                                                                                                          General: Autosomal recessive; consanguineous parents. Ocular: High myopia; optic disk cuppin [...]
Congenital retinal nonattachment 284
Congenital Retinal Nonattachment &n [...]
Cronkhite-canada syndrome 326
Cronkhite-Canada Syndrome &nb [...]
Ml iv (mucolipidosis iv; berman syndrome)
ML IV (Mucolipidosis IV; Berman Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Storage disease in which corneal clouding is an early sign with no evidence of systemic involvement until [...]
Leishmaniasis
Leishmaniasis                                                                                                                                            General: Caused by protozoa Leishmania. Ocular: Conjunctivitis; ulcerative keratitis; [...]
Enterobiasis (oxyuriasis; pinworm; seatworm)
Enterobiasis (Oxyuriasis; Pinworm; Seatworm)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Intestinal infection caused by Enterobius vermicularis; worm's head attached to cecal mucosa, appendix, [...]
Familial mediterranean fever
Familial Mediterranean Fever                                                                                                                 General: Recessive inherited polyserositis; progressive, fatal complications are renal failure and [...]
Hermansky-pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis) 5
Hermansky-Pudlak Syndrome (Oculocutaneous Albinism and Hemorrhagic Diathesis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Autosomal recessive; mostly affects children or young adults; tyrosinase-positive oculocutaneous albinism; abnormal platelets; increas [...]
Crome syndrome 325
Crome Syndrome &n [...]
Cataract, crystalline coralliform 208
Cataract, Crystalline Coralliform & [...]
Ophthalmoplegia, progressive external, with ragged red fibers
Ophthalmoplegia, Progressive External, with Ragged Red Fibers                                                      General: Autosomal dominant. Ocular: Progressive ophthalmoplegia. Clinical: Ragged red fibers in skeletal muscle from t [...]
Giant papillary conjunctivitis syndrome
Giant Papillary Conjunctivitis Syndrome                                                                                               General: Commonly associated with contact lenses (hard and soft), foreign bodies, and ocular prosthesis; i [...]
Hallervorden-spatz syndrome (pigmentary degeneration of globus pallidus; progressive pallidal degeneration syndrome
Hallervorden-Spatz Syndrome (pigmentary Degeneration of Globus Pallidus; Progressive Pallidal Degeneration Syndrome                                                                                                                           Ge [...]
Meyer-schwickerath-weyers syndrome (microphthalmos syndrome; oculodentodigital dysplasia)
Meyer-Schwickerath-Weyers Syndrome (Microphthalmos Syndrome; Oculodentodigital Dysplasia) General: Etiology unknown; two types recognized: (I) dysplasia oculodentodigitalis and (II) dyscraniopygophalangie; type I is characterized by microph [...]
Duplication 14q syndrome 392
Duplication 14q Syndrome &nbs [...]
Cataract, microcornea syndrome 211
Cataract, Microcornea Syndrome &nbs [...]
Asthma (hayfever)
Asthma (Hayfever) General: Asthma characterized by paroxysms of expiratory dyspnea and wheezing, overinflation of the lungs, cough, and rhonchi; causes include allergy to external inhaled allergens, respiratory infections, and psychophysiol [...]
Uvea touch syndrome
Uvea Touch Syndrome                                                                                                                           General: Caused by intraocular lens coming in contact with uveal tissue; seen most frequently with [...]
Nephrotic syndrome (lipoid nephrosis; idiopathic nephrotic syndrome; epstein syndrome)
Nephrotic Syndrome (Lipoid Nephrosis; Idiopathic Nephrotic Syndrome; Epstein Syndrome)Â Â Â Â Â Â General: Unknown etiology, although some connection seems to exist between use of various drugs (penicillamine, heavy metals, trimethadione) and ce [...]
Tuberculosis
Tuberculosis                                                                                                                                            General: Communicable disease caused by the acid-fast bacillus Mycobacterium tuberculosi [...]
Optic atrophy, nerve deafness
Optic Atrophy, Nerve Deafness                                                                                                               General: Autosomal recessive. Ocular: Degeneration of optic nerves. Clinical: Degeneration of t [...]
Schilder disease (encephalitis periaxialis diffusa)
Schilder Disease (Encephalitis Periaxialis Diffusa)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Lesions situated in the subcortical white matter (area 17); occurs in males; any age; etiology unknown [...]
Tilted disk syndrome 1
Tilted Disk Syndrome                                                                                                                             1 General: Relatively common congenital anomaly (l% to 2% of the population) consisting of infer [...]
Craniostenosis 317
Craniostenosis &n [...]
Sjögren syndrome (gougerot-sjögren syndrome; secretoinhibitor syndrome; sicca syndrome) 1
Sjögren Syndrome (Gougerot-Sjögren Syndrome; Secretoinhibitor Syndrome; Sicca Syndrome) 1 General: Etiology unknown; autosomal recessive; occurs in women over age 40 years; failure of the lacrimal and conjunctival glands to maintain adequate [...]
Reye syndrome (acute encephalopathy syndrome)
Reye Syndrome (Acute Encephalopathy Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unknown, although some relation to ingestion of aspirin with febrile illnesses, especially varicella an [...]
Seckel syndrome (bird-headed dwarf syndrome; virchow-seckel dwarfism; ateliosis; intrauterine growth retardation; low-birth-weight dwarfism; nanocephalic dwarfism; primordial dwarfism)
Seckel Syndrome (Bird-Headed Dwarf Syndrome; Virchow-Seckel Dwarfism; Ateliosis; Â Intrauterine Growth Retardation; Low-Birth-Weight Dwarfism; Nanocephalic Dwarfism; Â Primordial Dwarfism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Bartsocas-papas syndrome 122
Bartsocas-Papas Syndrome &nbs [...]
Neu syndrome 8
Neu Syndrome                                                                                                                                           8 General: Microcephaly-growth retardation-flexion deformities; both sexes affected; autos [...]
10q-syndrome (10q deletion syndrome)
10q-Syndrome (10q Deletion Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Chromosome 10q deletion syndrome. Ocular: Microphthalmia. Clinical: Intrauterine growth retardat [...]
Oculopalatocerebral dwarfism (opc dwarfism)
Oculopalatocerebral Dwarfism (OPC Dwarfism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; persistent hyperplastic primary vitreous. Ocular: Persistent hypertrophic primary v [...]
Puckering syndrome
Puckering Syndrome                                                                                                                              General: Disturbance of vitreous with vitreous retraction. Ocular: Epiretinal membrane formati [...]
Giardiasis
Giardiasis                                                                                                                                                   General: Multiflagellate protozoan; parasite of human duodenum; encystation occurs [...]
Freeman-sheldon syndrome (cranio-carpo-tarsal dysplasia; whistling face syndrome) 4
Freeman-Sheldon Syndrome (Cranio-Carpo-Tarsal Dysplasia; Whistling Face Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â 4 General: Rare; autosomal dominant and recessive inheritance as well as sporadic cases (genetic heterogeneity). Ocular: Eyes deeply sunken (e [...]
Walker-warburg syndrome (cerebroocular dysplasia-muscular dystrophy; warburg syndrome; cod-md syndrome; fukuyama congenital muscular dystrophy; hard + or - e syndrome) 1
Walker-Warburg Syndrome (Cerebroocular Dysplasia-Muscular Dystrophy; Warburg Syndrome; COD-MD Syndrome; Fukuyama Congenital Muscular Dystrophy; Hard + or - E Syndrome)Â Â Â Â Â 1 General: Rare; encompassing a triad of brain, eye, and musc [...]
Cortical blindness, retardation, and postaxial polydactyly 305
Cortical Blindness, Retardation, and Postaxial Polydactyly & [...]
Pediculosis and phthiriasis
Pediculosis and Phthiriasis                                                                                                                       General: Infestation of lice on head, body, or pubic area. Ocular: Conjunctivitis; keratitis [...]
Arteriovenous fistula
Arteriovenous Fistula (Arteriovenous Aneurysm; Arteriovenous Angioma; Arteriovenous  Malformation; Cirsoid Aneurysm; Racemose Hemangioma; Varicose Aneurysm) General: Abnormal communications between arteries and veins that allow arterial blo [...]
Maffucci syndrome (multiple enchondromatosis; progressive dyschondroplasia and multiple hemangiomas; kast syndrome; osteochondromatosis)
Maffucci Syndrome (Multiple Enchondromatosis; Progressive Dyschondroplasia and Multiple Hemangiomas; Kast Syndrome; Osteochondromatosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Genera [...]
California syndrome 187
California Syndrome &nb [...]
Ophthalmoplegia, progressive external, with scrotal tongue and mental deficiency
Ophthalmoplegia, Progressive External, with Scrotal Tongue and Mental Deficiency                      General: Autosomal dominant. Ocular: Progressive external ophthalmoplegia; progressive chorioretinal sclerosis; bilateral ptosis; conv [...]
Antimongolism syndrome
Antimongolism Syndrome (Chromosome 21 Partial Deletion Syndrome; Monosomy 21 Partial  Syndrome; G-Deletion Syndrome)                                                                                                                                     [...]
Familial hypogonadism syndrome 4
Familial Hypogonadism Syndrome                                                                                                         4 General: Defect in testosterone biosynthesis. Ocular: Progressive visual loss to complete blindness be [...]
Heterochromia iridis 5
Heterochromia Iridis                                                                                                                                 5 General: Autosomal dominant; can be associated with Horner, Waardenburg, and Marfan syndro [...]
Thermal burns 1
Thermal Burns                                                                                                                                        1 General: May occur to any body tissue. Ocular: Conjunctival necrosis; corneal ulcer; exp [...]
Franceschetti-thier syndrome
Franceschetti-Thier Syndrome                                                                                                                General: Autosomal recessive inheritance. Ocular: Corneal dystrophy. Clinical: Multiple lipomas [...]
Moller-barlow disease
Moller-Barlow Disease                                                                                                                              General: Vitamin C deficiency in children. Ocular: Hemorrhages around and, in rare cases, i [...]
Hajdu-cheney syndrome
Hajdu-Cheney Syndrome                                                                                                                         General: Rare; autosomal dominant; disorder of bone metabolism Ocular: Bilateral visual loss; c [...]
Epilepsy, light-sensitive
Epilepsy, Light-Sensitive                                                                                                                          General: Autosomal dominant. Ocular: Photic stimulation of 15 to 30 flashes per second, i [...]
East-west syndrome 395
East-West Syndrome &nbs [...]
Toxic shock syndrome 1
Toxic Shock Syndrome                                                                                                                           1 General: Multisystem illness caused by toxin-producing Staphylococcus aureus infection; occurs i [...]
Glaucoma, recessive juvenile
Glaucoma, Recessive Juvenile                                                                                                                  General: Autosomal recessive; rare; normal parents and consanguineous marriages; asymptomatic and [...]
American mucocutaneous leishmaniasis (cutaneous leishmaniasis; oriental sore)
American Mucocutaneous Leishmaniasis (Cutaneous Leishmaniasis; Oriental Sore)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Causative agent is protozoal parasite Leishmania brasiliensis. Ocular: Keratitis; eyelid edema; conjunctival ulcer; vascul [...]
Allgrove syndrome
Allgrove Syndrome                                                                                                                                         General: Autosomal dominant Ocular: Distichiasis, conjuncitivits, keratitis, congen [...]
Pendred syndrome (sporadic goiter with deafness)
Pendred Syndrome (Sporadic Goiter with Deafness)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive; defect in thyroxine biosynthesis. Ocular: Retinal pigmentary degenerative changes; p [...]
Stickler syndrome (hereditary progressive arthroophthalmopathy)
Stickler Syndrome (Hereditary Progressive Arthroophthalmopathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; onset in childhood; severe and debilitating connective tissue disorder inherited as an autosomal dom [...]
Oculopalatoskeletal syndrome
Oculopalatoskeletal Syndrome                                                                                                                 General: Autosomal recessive; developmental defect of eye and occipital bone; skeletal abnormalitie [...]
Horner syndrome (bernard-horner syndrome; cervical sympathetic paralysis syndrome; claude- bernard-horner syndrome; horner oculopupillary syndrome) 5
Horner Syndrome (Bernard-Horner Syndrome; Cervical Sympathetic Paralysis Syndrome; Claude- Bernard-Horner Syndrome; Horner Oculopupillary Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 5 General: Paralysis of cervical symp [...]
Japanese river fever (mite-borne typhus; rural typhus; scrub typhus; tropical typhus; tsutsugamushi disease; typhus)
Japanese River Fever (Mite-Borne Typhus; Rural Typhus; Scrub Typhus; Tropical Typhus; Tsutsugamushi Disease; Typhus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Acute [...]
Morgagni syndrome (hyperostosis frontalis interna syndrome; intracranial exostosis; metabolic craniopathy)
Morgagni Syndrome (Hyperostosis Frontalis Interna Syndrome; Intracranial Exostosis; Metabolic Craniopathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â [...]
Myopia, sex-linked
Myopia, Sex-Linked                                                                                                                                  General: Sex-linked; linkage to factor VIII gene; probable location Xq28. Ocular: Myopia; [...]
Trisomy 18 syndrome (e syndrome; edwards syndrome) 1
Trisomy 18 Syndrome (E Syndrome; Edwards Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Chromosome 18 present in triplicate; more common in females (3:1); age of mother over 40 years; onset from fetal life [...]
Rosenthal-kloepfer syndrome 1
Rosenthal-Kloepfer Syndrome                                                                                                              1 General: Autosomal dominant; unilateral or bilateral; onset in early childhood; hyperplasia and furrow [...]
Unna ii syndrome (marie-unna syndrome)
Unna II Syndrome (Marie-Unna Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Both sexes affected; rare; autosomal dominant; onset in children. Ocular: Eyebrows and eyelashes missing [...]
Alzheimer disease (dementia)
Alzheimer Disease (Dementia) General: Diffuse brain atrophy coming on well before the senile period of life; progressive; etiology currently unknown but hereditary disorder suspected; terminally, nearly decorticate, with loss of all ability [...]
Iris pigment layer cleavage
Iris Pigment Layer Cleavage                                                                                                                    General: Autosomal dominant; cleavage of pigment of iris and ciliary body. Ocular: Cataracts; r [...]
Tangier syndrome (lipoprotein deficiency; familial high-density lipoprotein deficiency; α-lipoprotein deficiency; fish eye disease) 1
Tangier Syndrome (Lipoprotein Deficiency; Familial High-Density Lipoprotein Deficiency; α-Lipoprotein Deficiency; Fish Eye Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Firs [...]
Rollet syndrome (orbital apex-sphenoidal syndrome) 1
Rollet Syndrome (Orbital Apex-Sphenoidal Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Lesion in the apex of the orbit (neoplastic, hemorrhagic, or inflammatory) involving the third, fourth, and six [...]
Hypophosphatasia (phosphoethanolaminuria)
Hypophosphatasia (Phosphoethanolaminuria)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Inborn error of metabolism that entails increased urinary excretion of phosphoethanolamine and associate [...]
Eclampsia and preeclampsia (toxemia of pregnancy; preeclampsia) 397
Eclampsia and Preeclampsia (Toxemia of Pregnancy; Preeclampsia) &n [...]
Retinoschisis of fovea
Retinoschisis of Fovea                                                                                                                             General: Autosomal recessive. Ocular: Foveal dystrophy; rod-cone dystrophy; nyctalopia; hyp [...]
Oculo-oto-oro-reno-erythropoietic disease
Oculo-Oto-Oro-Reno-Erythropoietic Disease                                                                                         General: Etiology unknown; slowly progressive course; ocular lesions similar to those of tuberous sclerosis, b [...]
Nystagmus compensation syndrome (ncs) 8
Nystagmus Compensation Syndrome (NCS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome, Secondary; Nystagmus Blockage Syndrome). Oc [...]
Gillum-anderson syndrome
Gillum-Anderson Syndrome                                                                                                                    General: Genetic defect responsible for weakness in the orbital connective tissue; proposed connecti [...]
Chronic progressive external ophthalmoplegia (cpeo; ophthalmoplegia plus) 250
Chronic Progressive External Ophthalmoplegia (CPEO; Ophthalmoplegia Plus) [...]
Oculogastrointestinal muscular dystrophy
Oculogastrointestinal Muscular Dystrophy                                                                                            General: Autosomal recessive; visceral myopathy with external ophthalmoplegia; intestinal pseudo obstructio [...]
Deletion of chromosome 12q 15-q23 353
Deletion of Chromosome 12q 15-q23 & [...]
Graft versus host disease
Graft Versus Host Disease                                                                                                                       General: Major complication of bone marrow transtation; donor T lymphocytes attack recipient's c [...]
S
S Sabin-Feldman Syndrome                                                                                                                      1 General: Etiology unknown; similar to toxoplasmosis; results of toxoplasma dye and com [...]
Subacute bacterial endocarditis 1
Subacute Bacterial Endocarditis                                                                                                           1 General: Inflammation of the lining of the heart typically caused by Staphylococcus epidermidis. O [...]
Lenz microphthalmia syndrome
Lenz Microphthalmia Syndrome                                                                                                             General: X-linked recessive; female carriers. Ocular: Microphthalmia; microcornea; ocular coloboma; c [...]
Orzechowski syndrome (truncal ataxia-opsoclonia; encephalitis-opsoclonia- tremulousness)
Orzechowski Syndrome (Truncal Ataxia-Opsoclonia; Encephalitis-Opsoclonia- Tremulousness)Â Â Â General: Etiology unknown; follows a benign upper respiratory infection; spontaneous resolution; opsoclonus has been described in patients with enc [...]
Pseudoexfoliation syndrome
Pseudoexfoliation Syndrome                                                                                                                  General: Prevalent over age 70 years; rare before age 40 years; unilateral involvement in 40% to 50% [...]
Arcus cornea (arcus senilis)
Arcus Cornea (Arcus Senilis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; occurs earlier in blacks; frequently associated with abnormal [...]
Inverted y syndrome
Inverted Y Syndrome                                                                                                                               General: Etiology unknown. Ocular: Partial A syndrome with additional deviation occurring on [...]
Hermit syndrome 5
Hermit Syndrome                                                                                                                                      5 General: Seen in alcoholic men in their 60s and 70s living in relative social isolation; s [...]
Möbius i syndrome (hemicrania, hemiplegic; hemiplegic-ophthalmoplegic migraine; hemiplegic familial migraine)
Möbius I Syndrome (Hemicrania, Hemiplegic; Hemiplegic-Ophthalmoplegic Migraine; Hemiplegic Familial Migraine)                                                                                                                                     [...]
Pelizaeus-merzbacher disease (aplasia axialis extracorticalis congenita; sudanophilic leukodystrophy)
Pelizaeus-Merzbacher Disease (Aplasia Axialis Extracorticalis Congenita; Sudanophilic Leukodystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Ge [...]
Aicardi syndrome
Aicardi Syndrome                                                                                                                                           General: All symptoms present at birth; cause unknown; all findings progress with age [...]
Myelinated optic nerve fibers
Myelinated Optic Nerve Fibers                                                                                                                General: Autosomal dominant; transmission has been reported as autosomal recessive. Ocular: Whit [...]
Acrorenoocular syndrome
Acrorenoocular Syndrome                                                                                                                             General: Autosomal dominant; Duane syndrome with radial defects. Ocular: Complete colobom [...]
Bogorad syndrome (paroxysmal lacrimation syndrome; crocodile tear syndrome) 162
Bogorad Syndrome (Paroxysmal Lacrimation Syndrome; Crocodile Tear Syndrome) 162 General: Subsequent to [...]
Gerlier disease (kubisagari; le tourniquet; paralytic vertigo)
Gerlier Disease (Kubisagari; Le Tourniquet; Paralytic Vertigo)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Cranial nerve dysfunction suggests a basal lesion such as epidemic paralyzed vertigo; infective agent suspect [...]
Silver syndrome (congenital hemihypertrophy)
Silver Syndrome (Congenital Hemihypertrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Muscular hypertrophy of one side of face; etiology unknown; reported association of this condition with a s [...]
Progressive inherited retinal arteriolar tortuosity with retinal hemorrhages (familial retinal arteriolar tortuosity with retinal hemorrhages)
Progressive Inherited Retinal Arteriolar Tortuosity with Retinal Hemorrhages (Familial Retinal Arteriolar Tortuosity with Retinal Hemorrhages)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosoma [...]
Shaken baby syndrome (battered-baby syndrome; battered-child syndrome; child abuse syndrome; silverman syndrome) 1
Shaken Baby Syndrome (Battered-Baby Syndrome; Battered-Child Syndrome; Child Abuse Syndrome; Silverman Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Associated [...]
Palatal myoclonus syndrome
Palatal Myoclonus Syndrome                                                                                                                  General: Vascular disorders of brainstem that involve inferior olive and olivodentate connection; co [...]
Floppy iris syndrome 4
Floppy Iris Syndrome                                                                                                                               4 General: Flomax (tamsulosin) is causative agent during cataract. Flomax is commonly prescrib [...]
Toluene abuse 1
Toluene Abuse                                                                                                                                         1 General: Caused by inhalation of toluene and other toluene-containing substances, such as [...]
Sporotrichosis
Sporotrichosis                                                                                                                                          General: Chronic fungal infection caused by Sporothrix schenckii; lesion usually occurs [...]
Dubin- johnson syndrome (chronic idiopathic jaundice; rotor syndrome) 389
Dubin- Johnson Syndrome (Chronic Idiopathic Jaundice; Rotor Syndrome) [...]
Plasma lecithin deficiency (cholesterol acyltransferase deficiency) 9
Plasma Lecithin Deficiency (Cholesterol Acyltransferase Deficiency)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Autosomal recessive. Ocular: Corneal stromal opacities comprising small gray dots in central and peripheral ar [...]
Orzechowski syndrome (truncal ataxia-opsoclonia; encephalitis-opsoclonia- tremulousness)
Orzechowski Syndrome (Truncal Ataxia-Opsoclonia; Encephalitis-Opsoclonia- Tremulousness)Â Â Â General: Etiology unknown; follows a benign upper respiratory infection; spontaneous resolution; opsoclonus has been described in patients with enc [...]
Fish odor syndrome (trimethylaminuria)
Fish Odor Syndrome (Trimethylaminuria)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Metabolic syndrome characterized by a strong body odor of rotting fish; trimethylamine levels elevate [...]
Jacobsen-brodwall syndrome
Jacobsen-Brodwall Syndrome                                                                                                                 General: Syndrome consists of inborn defect in erythropoiesis; dysplastic kidneys; eye lesions; malfo [...]
Best disease (best macular degeneration; vitelliruptive macular dystrophy; polymorphic macular degeneration of braley; vitelliform dystrophy) 141
Best Disease (Best Macular Degeneration; Vitelliruptive Macular Dystrophy; Polymorphic Macular Degeneration of Braley; Vitelliform Dystrophy) [...]
Epiblepharon
Epiblepharon                                                                                                                                             General: Autosomal dominant; occurs predominantly in Chinese individuals. Ocular: Epi [...]
Neurilemoma (schwannoma; neurinoma)
Neurilemoma (Schwannoma; Neurinoma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Slow-growing encapsulated neoplasm from the Schwann cells of nerves; seen most frequently with patients [...]
Nystagmus compensation syndrome (ncs) 8
Nystagmus Compensation Syndrome (NCS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 8 General: Congenital (see Ethan Syndrome, Primary; Ethan Syndrome, Secondary; Nystagmus Blockage Syndrome). Oc [...]
Posterior uveal bleeding syndrome
Posterior Uveal Bleeding Syndrome                                                                                                      General: Most commonly affects middle-aged black females; also observed in white or Asian people Ocula [...]
Bobble-head doll syndrome 161
Bobble-Head Doll Syndrome &nb [...]
Nager syndrome (nager acrofacial dyostosis)
Nager Syndrome (Nager Acrofacial Dyostosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare congenital syndrome characterized by mandibulofacial dyostosis with associated radial defects. [...]
Pupillary membrane, persistent
Pupillary Membrane, Persistent                                                                                                            General: Autosomal dominant. Ocular: Remnants of pupillary membrane persist as strands and other ir [...]
Iridal adhesion syndrome (iris adhesion syndrome, iridocorneal endothelial syndrome)
Iridal Adhesion Syndrome (Iris Adhesion Syndrome, Iridocorneal Endothelial Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â General: Surgically related phenomenon following intraocular surgery in which iris pigment epithelium proliferates and adheres to cut edge of a [...]
Oculocerebrocutaneous syndrome (delleman syndrome)
Oculocerebrocutaneous Syndrome (Delleman Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Congenital; possibly autosomal recessive or a result of an environmental problem; Dutch descent appears to be a p [...]
Optic disk traction syndrome
Optic Disk Traction Syndrome                                                                                                                General: Optic disc traction with elevation associated with posterior vitreous detachment or vitreop [...]
Werlhof disease (hemophilia and thrombocytopenic purpura)
Werlhof Disease (Hemophilia and Thrombocytopenic Purpura)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Hemorrhagic disease of unknown etiology. Ocular: Retinal hemorrhages; degeneration or severe intraocular hemorrhages [...]
Dejean syndrome (orbital floor syndrome) 350
Dejean Syndrome (Orbital Floor Syndrome) [...]
Cogan-guerry syndrome (microcystic corneal dystrophy; map-dot fingerprint dystrophy) 264
Cogan-Guerry Syndrome (Microcystic Corneal Dystrophy; Map-Dot Fingerprint Dystrophy) 264 General: Etiology obscure; condition benign and asymptomatic; females predominantly affected; ultrastruc [...]
Spastic paraplegia, optic atrophy, dementia
Spastic Paraplegia, Optic Atrophy, Dementia                                                                                      General: Autosomal dominant. Ocular: Pallor of optic disk; constricted visual fields; optic atrophy; visible [...]
Bowen disease (intraepithelial epithelioma; carcinoma in situ; dyskeratosis) 168
Bowen Disease (Intraepithelial Epithelioma; Carcinoma In Situ; Dyskeratosis) [...]
Accommodative insufficiency (accommodative effort syndrom)
Accommodative Insufficiency (Accommodative Effort Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Male or female; 10 to 35 years of age. Ocular: Asthenopia with near vision appearing within a few minutes afte [...]
Palpebral coloboma-lipoma syndrome (nasopalpebral lipoma-coloboma)
Palpebral Coloboma-Lipoma Syndrome (Nasopalpebral Lipoma-Coloboma)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; described in a Venezuelan family. Ocular: Coloboma of upper and lower lids at junction between their middle [...]
Lignac-fanconi syndrome (fanconi-lignac syndrome; cystinosis syndrome; cystine storage-aminoaciduria-dwarfism syndrome; renal rickets; nephropathic cystinosis)
Lignac-Fanconi Syndrome (Fanconi-Lignac Syndrome; Cystinosis Syndrome; Cystine Storage-Aminoaciduria-Dwarfism Syndrome; Renal Rickets; Nephropathic Cystinosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessively inherited storage [...]
Crst syndrome (thibierge-weissenbach syndrome; calcinosis, raynaud phenomenon, sclerodactyly, and telangiectasia) 329
CRST Syndrome (Thibierge-Weissenbach Syndrome; Calcinosis, Raynaud Phenomenon, Sclerodactyly, and Telangiectasia) [...]
Cardiorespiratory obesity syndrome (pickwickian syndrome) 199
Cardiorespiratory Obesity Syndrome (Pickwickian Syndrome) [...]
Tritanopia (color blindness; blue color blindness)
Tritanopia (Color Blindness; Blue Color Blindness)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant; more common in males; defective blue color vision is characteristic; two amino acid su [...]
Plague (bubonic plague; pneumonic plague) 9
Plague (Bubonic Plague; Pneumonic Plague)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 9 General: Infectious disease of animals (principally wild animals and rodents) that is transmitted through the [...]
Ophthalmoplegia, progressive external
Ophthalmoplegia, Progressive External                                                                                                  General: Autosomal recessive; progressive limitation of ocular motility with clinical sparing of pupillar [...]
Hypomelanosis of ito syndrome (incontinentia pigmenti achromians; systematized achromic nevus)
Hypomelanosis of Ito Syndrome (Incontinentia Pigmenti Achromians; Systematized Achromic Nevus)Â Â Â Â Â Â Â Â General: Probable autosomal dominant transmission; cutaneous abnormality consisting of bizarre, patterned, macular hypopigmentation over [...]
Optic canal syndrome
Optic Canal Syndrome                                                                                                                             General: Caused by severe blow to the head, usually the face or occiput. Ocular: Unilateral b [...]
Cataract, nuclear diffuse nonprogressive 214
Cataract, Nuclear Diffuse Nonprogressive [...]
Rochon-duvigneaud syndrome (superior orbital fissure syndrome) 1
Rochon-Duvigneaud Syndrome (Superior Orbital Fissure Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 1 General: Inflammatory, traumatic, tumor, or vascular lesions such as meningioma of the sphenoid, carotid aneurysm, and arachnoiditi [...]
Ring chromosome 6 (aniridia, congenital glaucoma, and hydrocephalus)
Ring Chromosome 6 (Aniridia, Congenital Glaucoma, and Hydrocephalus)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare disorder associated with various congenital anomalies; autosomal dominant with recessive sporadically reported. Ocular: [...]
Macular dystrophy
Macular Dystrophy                                                                                                                                   General: Sex-linked; macular dystrophy of fundus. Ocular: Posterior pole changes; marked d [...]
Mastocytosis (urticaria; mast cell leukemia)
Mastocytosis (Urticaria; Mast Cell Leukemia)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Increased mast cells found in tissues and organs; range from cutaneous to systemic condition. Ocu [...]
Ml iii (pseudo-hurler polydystrophy; mucolipidosis iii)
ML III (Pseudo-Hurler Polydystrophy; Mucolipidosis III)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal recessive disorder, almost indistinguishable biochemically from mucolipidosis II; decreased levels [...]
4 a syndrome (adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities) 4
4 a Syndrome (Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 4 [...]
Familial histiocytic dermatoarthritis syndrome 4
Familial Histiocytic Dermatoarthritis Syndrome                                                                                    4 General: Autosomal dominant; manifestations in childhood or adolescence; progressive. Ocular: Glaucoma; bi [...]
Dubowitz syndrome (dwarfism-eczema-peculiar facies) 390
Dubowitz Syndrome (Dwarfism-Eczema-Peculiar Facies) & [...]
Vaccinia
Vaccinia                                                                                                                                                   General: Laboratory virus used for vaccination against smallpox. Ocular: Pustules o [...]
Popliteal pterygium syndrome (pps)
Popliteal Pterygium Syndrome (PPS)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Rare autosomal dominant disorder similar to Van der Woude syndrome (the two are possibly allelic). [...]
Hodgkin disease
Hodgkin Disease                                                                                                                                        General: Hodgkin disease begins in the lymph nodes and usually spreads in a predictable f [...]
Pyoderma vegetans (dermatitis vegetans)
Pyoderma Vegetans (Dermatitis Vegetans)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Occurs in both sexes and all ages; frequently seen with preexisting eczema or infective dermatitis; no [...]
Parotid aplasia or hypoplasia (salivary gland absence; lacrimal puncta absence)
Parotid Aplasia or Hypoplasia (Salivary Gland Absence; Lacrimal Puncta Absence)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Autosomal dominant. Ocular: Lacrimal gland aplasia; absence or severe dysfunction of lacrimal glands. Clinical: Aplasia of [...]
Crohn disease (granulomatous ileocolitis) 324
Crohn Disease (Granulomatous Ileocolitis) [...]
Neu syndrome 8
Neu Syndrome                                                                                                                                           8 General: Microcephaly-growth retardation-flexion deformities; both sexes affected; autos [...]
Van bogaert-scherer-epstein syndrome (primary hyperlipidemia; familial hypercholesterolemia syndrome)
Van Bogaert-Scherer-Epstein Syndrome (Primary Hyperlipidemia; Familial  Hypercholesterolemia Syndrome)                                                                                                                                                  [...]
Photosensitivity and sunburn
Photosensitivity and Sunburn                                                                                                                  General: Enhanced responsiveness to natural or artificial nonionizing electromagnetic radiation; p [...]
Convergence insufficiency syndrome (asthenovergence of stutterheim) 293
Convergence Insufficiency Syndrome (Asthenovergence of Stutterheim) &nbs [...]
Neurocutaneous syndrome
Neurocutaneous Syndrome                                                                                                                      General: Triad of linear nevus sebaceous; seizures; mental retardation. Ocular: Colobomas of irid [...]
Sluder syndrome (sphenopalatine ganglion neuralgia syndrome; lower facial neuralgia syndrome)
Sluder Syndrome (Sphenopalatine Ganglion Neuralgia Syndrome; Lower Facial Neuralgia Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Ge [...]
Sporadic cretinism (congenital hypothyroidism)
Sporadic Cretinism (Congenital Hypothyroidism)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Variable, from complete lack of thyroid function to reduced function because of enzyme defects; endemic in [...]
Meningioma 7
Meningioma                                                                                                                                               7 General: Benign, slow-growing tumors that arise from the arachnoid matter, the middle [...]
Erosion syndrome
Erosion Syndrome                                                                                                                                    General: Caused by imperfect adherence of corneal epithelium due to abnormalities in basemen [...]
Laurence-moon-bardet-biedl syndrome (bardet-biedl syndrome; retinitis pigmentosa-polydactyly-adiposogenital syndrome)
Laurence-Moon-Bardet-Biedl Syndrome (Bardet-Biedl Syndrome; Retinitis Pigmentosa-Polydactyly-Adiposogenital Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Gene [...]
Optic canal syndrome
Optic Canal Syndrome                                                                                                                             General: Caused by severe blow to the head, usually the face or occiput. Ocular: Unilateral b [...]
Corneal dystrophy, granular type (groenouw type i corneal dystrophy) 297
Corneal Dystrophy, Granular Type (Groenouw Type I Corneal Dystrophy) &nb [...]
Oculopharyngeal syndrome (progressive muscular dystrophy with ptosis and dysphagia; oculopharyngeal muscular dystrophy)
Oculopharyngeal Syndrome (progressive Muscular Dystrophy with Ptosis and Dysphagia; Oculopharyngeal Muscular Dystrophy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Etiology unkn [...]
Purtscher syndrome (fat embolism syndrome; traumatic retinal angiopathy; traumatic liporrhagia; valsalva retinopathy of duane; duane retinopathy)
Purtscher Syndrome (Fat Embolism Syndrome; Traumatic Retinal Angiopathy; Traumatic Liporrhagia; Valsalva Retinopathy of Duane; Duane Retinopathy)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Most frequently seen in accidents a [...]
Mesodermal dysgenesis (anterior chamber dysgenesis; dysembryogenesis; anterior segment ocular dysgenesis syndrome) 7
Mesodermal Dysgenesis (Anterior Chamber Dysgenesis; Dysembryogenesis; Anterior Segment Ocular Dysgenesis Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â 7 [...]
Y
Y Y Syndrome                                                                                                                                             1 General: Etiology unknown. Ocular: Partial V-pattern strabismus seen only [...]
Epidemic keratoconjunctivitis
Epidemic Keratoconjunctivitis                                                                                                                 General: Highly communicable; adenovirus types 8 and 19; usually bilateral; epidemic keratoconjun [...]
Hydatid cyst (echinococcosis)
Hydatid Cyst (Echinococcosis)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Caused by Echinococcus granulosus acquired by contact with a dog host. Ocular: Conjunc [...]
Mucocutaneous lymph node syndrome (mln syndrome; kawasaki disease)
Mucocutaneous Lymph Node Syndrome (MLN Syndrome; Kawasaki Disease)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Multisystem syndrome with worldwide distribution; occurs from age 2 months to 9 years; increased incidence in summer; etiology unkno [...]
Louis-bar syndrome (cephalo-oculocutaneous telangiectasis; ataxia-telangiectasia syndrome)
Louis-Bar Syndrome (Cephalo-Oculocutaneous Telangiectasis; Ataxia-Telangiectasia Syndrome)Â General: Autosomal recessive; thymic abnormality leading to an immunologic deficiency has been suggested as the cause; chromosomal translocations ar [...]
Nonne-milroy-meige disease (chronic hereditary lymphedema; milroy disease; meige disease; meige-milroy syndrome; nonne-milroy syndrome; chronic hereditary edema; chronic hereditary trophedema; chronic trophedema; elephantiasis congenita hereditaria; familial hereditary edema; hereditary edema; idiopathic hereditary lymphedema; pseudoedematous hypodermal hypertrophy; pseudoelephantiasis neuroarthritica; oromandibular dystonia; blepharospasm-oromandibular dystonia; congenital trophedema; tropholymphedema; trophoneurosis; elephantiasis arabum congenita) 8
Nonne-Milroy-Meige Disease (Chronic Hereditary Lymphedema; Milroy Disease; Meige Disease; Meige-Milroy Syndrome; Nonne-Milroy Syndrome; Chronic Hereditary Edema; Chronic Hereditary Trophedema; Chronic Trophedema; Elephantiasis Congenita Hereditar [...]
Johnson syndrome (adherence syndrome; adherent lateral rectus syndrome)
Johnson Syndrome (Adherence Syndrome; Adherent Lateral Rectus Syndrome)Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â General: Congenital delayed development; most frequent in children below age 3 years; spontaneous disappearance possible; two principal type [...]
Botulism 165
Botulism &n [...]
Cryoglobulinemia 330
Cryoglobulinemia [...]
