The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
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Case Report

The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease

Turk J Ophthalmol 2011;41(6):414-416 DOI: 10.4274/tjo.41.57966
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Abstract

Fabry’s disease is an X-linked, inherited disorder caused by a deficiency of the enzyme alfa-galactosidase A and characterized by progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ocular findings of Fabry’s disease are cornea verticillata, conjunctival vascular changes, retinal vessel tortuosity and cataract. We report the clinical and confocal microscopic findings of cornea verticillata observed in a patient who was diagnosed as Fabry’s disease. (Turk J Ophthalmol 2011; 41: 414-6)

Keywords: Cornea verticillata, Fabry’s disease, confocal microscopy