Fabry's Disease as a Cause of Sequential, Bilateral Central Retinal Artery Occlusions: A Case and Review

Abstract

Abstract: : Purpose:To discuss a female carrier of Fabry’s who presented with sequential, bilateral central retinal artery occlusions. Methods: Case report and literature review. Discussion: Fabry's disease (angiokeratoma corporis diffusum) is an X–linked disease of glycosphingolipid metabolism. A deficiency in lysosomal enzyme Alpha–Galactosidase A causes incomplete lipid catabolism, which accumulate in the endothelial and smooth muscle cells of vessels, resulting in progressive ischemia and infarction. We are reporting a case of sequential, bilateral central retinal artery occlusion (CRAO) in a patient who is a carrier for Fabry's Disease. Although rare, this case underlines the importance of a thorough systemic evaluation in the workup of CRAO. Previous literature highlighting fabry’s disease as an etiology for central retinal artery occlusion will be reviewed.

Keywords: vascular occlusion/vascular occlusive disease • genetics • ischemia