| Literature DB >> 207248 |
N A Sher, W Reiff, R D Letson, R J Desnick.
Abstract
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.Entities:
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Year: 1978 PMID: 207248 DOI: 10.1001/archopht.1978.03910050421003
Source DB: PubMed Journal: Arch Ophthalmol ISSN: 0003-9950