Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of a 21-year-old man with Fabry's disease who presented with a sudden decrease in visual acuity to 20/200 in the left eye. Pale areas with a lobular choroidal distribution were seen on fundus examination. No retinal vascular causes were found on further evaluation. With anticoagulation treatment, the patient's subsequent course was good, with visual recovery to 20/25 and normalization of the funduscopic appearance. Recovery of both visual acuity and the pale, lobular areas suggested a choroidal etiology, probably ischemic because of the sudden onset. Choroidian ischemia is therefore a cause of visual acuity loss in Fabry's disease, so far not described in the literature.
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PMID:[Loss of visual acuity due to choroidal ischemia in Fabry's disease]. 1458 28