A Case of Fabry's Disease Presenting with Ischemic Optic Neuropathy

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Identifier 20050215_nanos_posters_084.pdf
Title A Case of Fabry's Disease Presenting with Ischemic Optic Neuropathy
Creator Hideki Chuman, MD, PhD; Nobuhisa Nao-i
Affiliation Miyazaki, Japan
Subject Fabry's Disease; Ischemic Optic Neuropathy; Stroke
Description A 23-year-old man suddenly noted blurred vision OS one day prior to presentation. There was an afferent pupillary defect (APD) OS. Funduscopic examination demonstrated disc edema OS. Visual field examination showed a generalized constriction. A brain MRI revealed an acute infarction in the right thalamus. His visual acuity was 20/20 OU. He had an upgaze deficit with slow saccade. A skew deviation was present. A slit lamp examination showed mild corneal pigmentation in both eyes which were otherwise normal. Alpha-galactosidase in his WBC was extremely low (2.2 nmol/mgP/h). Fabry's disease was diagnosed.
Date 2005-02-15
Language eng
Format application/pdf
Type Text
Source 2005 North American Neuro-Ophthalmology Society Annual Meeting
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s68m0ghq
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 181273
Reference URL https://collections.lib.utah.edu/ark:/87278/s68m0ghq
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