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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.

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