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Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy
Author(s) -
Andersen Mads Varis Nis,
Dahl Helena,
Fledelius Hans,
Nielsen Niels Vesti
Publication year - 1994
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1994.tb07193.x
Subject(s) - angiokeratoma , fabry's disease , medicine , central retinal artery occlusion , fluorescein angiography , ophthalmology , occlusion , ophthalmoscopy , retinal , scanning laser ophthalmoscopy , fabry disease , central retinal vein occlusion , pathology , disease , macular edema
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.

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