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May 1978

Central Retinal Artery Occlusion Complicating Fabry's Disease

Author Affiliations

From the Departments of Ophthalmology (Drs Sher and Letson), and Pediatrics and Genetics, and Cell Biology (Dr Desnick), University of Minnesota, Minneapolis, and the Department of Ophthalmology, University of Wisconsin, Madison (Dr Reiff). Dr Desnick is now with the Department of Medical Genetics, Mt Sinai School of Medicine, New York.

Arch Ophthalmol. 1978;96(5):815-817. doi:10.1001/archopht.1978.03910050421003

• A 16-year-old boy had a central retinal artery occlusion and was subsequently diagnosed as a hemizygote with Fabry's disease. The typical ocular manifestations in males with this inborn error of glycosphingolipid metabolism include whorl-like corneal epithelial infiltrates, retinal and conjunctival vessel tortuosity, and lenticular changes. The present case represents the first report of a retinal artery occlusion as an ocular complication of Fabry's disease.

Desnick RJ, Klionsky B, Sweeley CC:  Fabry's disease , in Stanbury JB, Wyngaarden JB, Fredrickson (eds): Metabolic Basis of Inherited Disease , ed 4. New York, McGraw-Hill Book Co, 1977, pp 810-840.
Frost P, Tanaka Y:  Fabry's disease—glycolipid lipidosis: Histochemical and electron microscopic studies of two cases . Am J Med 40:618-627, 1966.Article
Franceschetti A:  Fabry's disease: Ocular manifestations , in Bergsma D, Bron AJ, Cottlier E (eds): The Eye and Inborn Errors in Metabolism . National Foundation, March of Dimes, Original Article Series, vol 12, No. 3, New York, AR Liss Co, 1976, pp 195-208.
Calmettes L, Deodati F, Dupre A, et al:  Manifestations oculaires du syndrome de Fabry . Bull Soc Ophtalmol Fr 6:513-517, 1959.
Weingeist TA, Blodi FC:  Fabry's disease: Ocular findings in a female carrier . Arch Ophthalmol 85:169-176, 1971.Article
Font RH, Fine BS:  Ocular pathology in Fabry's disease: Histochemical and electron microscopic observations . Am J Ophthalmol 73:419-430, 1972.
Grace EV:  Diffuse angiokeratosis (Fabry's disease) . Am J Ophthalmol 62:139-145, 1966.
Rahman AN:  The ocular manifestations of hereditary dystopic lipidosis . Arch Ophthalmol 69:708-716, 1963.Article
DeGroot WP:  Angiokeratoma corporis diffusum Fabry . Dermatologica 128:321-349, 1964.Article
Spaeth GL, Frost P:  Fabry's disease: Its ocular manifestation . Arch Ophthalmol 74:760-769, 1965.Article
Velzeboer CMJ, DeGroot WP:  Ocular manifestations in angiokeratoma corporis diffusum (Fabry) . Br J Ophthalmol 55:683-692, 1971.Article
Wray SH:  Retinopathy associated with defects in metabolism , in Duane TD (ed): Clinical Ophthalmology . Hagerstown, Md, Harper & Row Publishers Inc, 1975, pp 22-27.
Desnick RJ, Allen KY, Desnick SJ, et al:  Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, leukocytes and urine . J Lab Clin Med 81:157-171, 1973.
Desnick RJ, Dawson G, Desnick SJ, et al:  Diagnosis of glycosphingolipidoses by urinary sediment analysis . N Engl J Med 284:739-744, 1971.Article
Bron AJ:  Vortex patterns of corneal epithelium . Trans Ophthalmol Soc 93:455-472, 1973.
Wise D, Wallace HJ, Jellinek EH:  Angiokeratoma corporis diffusum: A clinical study of eight families . Q J Med 31:177-206, 1962.
Netherton EW:  A case for diagnosis (demonstration) . Arch Dermatol 29:965-966, 1934.
Bass BH:  Angiokeratoma corporis diffusum . Br Med J 1:1418, 1958.Article
Hofmann A, Hauser W:  Angiokeratoma corporis diffusum (Fabry) mit cerebralen manifestation . Dtsch Z Nervenheilk 183:351-362, 1962.Article
Bethune JE, Landrigan PL, Chipman LD:  Angiokeratoma corporis diffusum (Fabry's disease) in two brothers . N Engl J Med 264:1280-1285, 1961.Article
Wallace RD, Cooper WJ:  Angiokeratoma corporis diffusum universale (Fabry) . Am J Med 39:656-661, 1965.Article
Desnick RJ, Bleiden LD, Sharp HL, et al:  Cardiac valvular anomalies in Fabry's disease: Clinical, morphologic and biochemical studies . Circulation 54:818-825, 1976.Article