| Literature DB >> 7887166 |
M V Andersen1, H Dahl, H Fledelius, N V Nielsen.
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.Entities:
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Year: 1994 PMID: 7887166 DOI: 10.1111/j.1755-3768.1994.tb07193.x
Source DB: PubMed Journal: Acta Ophthalmol (Copenh) ISSN: 0001-639X