Central retinal artery occlusion complicating Fabry's disease.
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.
D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D001157:Arterial Occlusive Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006028:Glycosphingolipids / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D012161:Retinal Artery / Q000378:metabolism; D000519:alpha-Galactosidase / Q000235:genetics
D006028:Glycosphingolipids; D000519:alpha-Galactosidase