NARP Syndrome 757g67h 757g67h 757g67h 757g67h 757g67h 757g67h
General: Neurogenic weakness (N), ataxia (A), and retinitis pigmentosa (RP) syndrome.
Ocular: Retinitis pigmentosa; bull's-eye maculopathy; salt-and-pepper retinopathy.
Clinical: NARP syndrome patients develop ataxia, weakness, and have retinitis pigmentosa, causing gradual visual field constriction.
Choweres I, et al. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol 1999; 83:190-l93.
Holt IJ, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46:428-433.
Kerrison JB, Biousse V, Newman NJ. Retmopathy of NARP syndrome. Arch Ophthalmol 2000; 118:298.
Ortiz, et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993; 111:1525-l530.
Pseudoexfoliation Syndrome G [...] |
Sluder Syndrome (Sphenopalatine Ganglion Neuralgia Syndrome; Lower Facial Neuralgia Syndrome) [...] |
Johnson Syndrome (Adherence Syndrome; Adherent Lateral Rectus Syndrome) General: Congenital delayed development; [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
