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Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy
M V Andersen1, H Dahl, H Fledelius
1Department of Ophthalmology, University of Copenhagen, Rigshospitalet, Denmark.
Acta Ophthalmologica
|October 1, 1994
Abstract:
Fabry's disease, angiokeratoma corporis diffusum, is an X-linked inborn error of glycosphingolipid metabolism due to lack of activity of the lysosomal enzyme, alpha-galactosidase A, resulting in progressive intracellular deposition of neutral glycosphingolipids in various tissues, including vascular endothelial - and smooth muscle cells. Occlusions of the retinal vessels are rare. We present a case of central retinal artery occlusion in a 25-year-old male with Fabry's disease, documented by fluorescein- and indocyanine green angiography performed by scanning laser opththalmoscopy.