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Ocular Manifestations of Fabry Disease

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Title: Ocular Manifestations of Fabry Disease
Author: Ethan Tittler
Date: 2010
Keywords / Main Subjects: Fabry Disease; Disorders of lipid metabolism; Cloudy cornea; Renal failure; Peripheral neuropathy; Lysosomal inclusions; Alpha-galactosidase; A X-linked recessive; Corneal verticillata; Enlarged corneal nerves
Secondary CORE Category: External Disease and Cornea / Systemic Disorders with Corneal Changes / Disorders of Lipid Metabolism and Storage
Third CORE Category: Retina and Vitreous / Retinal Degenerations Associated with Systemic Disease / Metabolic Diseases
Diagnosis: Fabry Disease
Brief Description: This is a review and hypothetical case report covering the diagnosis, pathogenesis, clinical course, and prognosis of Fabry disease. The genetics and electron microscopic histopathology are also covered in this presentation. Attention is paid to systemic signs and ocular signs.
Format: video
Series: Moran Eye Center Grand Rounds
Identifier: Moran_CORE_14826
Copyright statement: Copyright 2015. Please see terms of use page for more information.