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 ocular findings of a patient with anterior ischemic optic neuropathy (AION) and cilioretinal artery occlusion in a female carrier of Fabry's disease. Fluorescein angiography revealed delayed filling of the upper and temporal part of peripapillary choroidal vessels and capillaries of the right optic disk and late filling of the cilioretinal artery. CT scanning was performed several times in early stages and demonstrated thickening of the intraorbital optic nerve due to ischemic edema. About 5 months later, the fellow eye showed optic disk edema, an early sign of AION, and was treated by systemic corticosteroid and urokinase whereby AION did not progress.
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PMID:Ischemic optic neuropathy in a female carrier with Fabry's disease. 147 86