title: Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy.
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.
authors.affiliation: Department of Ophthalmology, University of Copenhagen, Rigshospitalet, Denmark.
authors.forename: M V
authors.initials: MV
authors.lastname: Andersen
authors.forename: H
authors.initials: H
authors.lastname: Dahl
authors.forename: H
authors.initials: H
authors.lastname: Fledelius
authors.forename: N V
authors.initials: NV
authors.lastname: Nielsen
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000150:complications*; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007208:Indocyanine Green; D007834:Lasers; D008297:Male; D019721:Ophthalmoscopes; D012160:Retina / Q000473:pathology*; D015356:Retinal Artery Occlusion / Q000175:diagnosis* / Q000209:etiology*
chemical_list: D007208:Indocyanine Green