Grnblad-strandberg syndrome (systemic elastodystrophy; pseudoxanthoma elasticum; elastorrhexis; darier-grnblad-strandberg syndrome)

General: Autosomal recessive; female-to-male ratio of 2:1; inheritance is usually autosomal recessive, but it also has reported as autosomal dominant.

Ocular: 'Angioid streaks' of the retina; macular hemorrhages and transudates not infrequent; choroidal sclerosis; retinal detachment; keratoconus; cataract; paralysis of extraocular muscles (secondary to vascular lesions of central nervous system); subluxation of lens; exophthalmos; optic atrophy; vitreous hemorrhages; Salmon spot multiple atrophic peripheral RPE lesions; reticular pigment dystrophy of the macula; optic disk drusen; multiple small crystalline bodies associated with atrophic RPE changes.

Clinical: Pseudoxanthoma elasticum with thickening, softening, and relaxation of the skin; skin changes are symmetrical in skin folds near large joints (axilla, elbow, inguinal region, lower abdomen, neck); flattening of the pulse curve and peripheral vascular disturbances; gastrointestinal hemorrhages.

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Grand MG, et al. Angioid streaks associated with pseudoxanthoma elasticum in a 13-year old patient. Ophthalmology 1987; 94:197-200.

Guyer DR, Gragoudas ES, D'Amico DJ. Angioid streaks. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. II. Philadelphia: WB Saunders, 1994.

Hull DS, Aaberg TM. Fluorescein study of a family with angioid streaks and pseudoxanthoma elasticum. Br J Ophthalmol 1974; 58:738-745.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Schilling JS, Blach RK. Prognosis and therapy of angioid streaks. Trans Ophthalmol Soc U K 1975; 95:301-306.