• 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.
Sher NA, Reiff W, Letson RD, Desnick RJ. Central Retinal Artery Occlusion Complicating Fabry's Disease. Arch Ophthalmol. 1978;96(5):815-817. doi:10.1001/archopht.1978.03910050421003