Andersen M V, Dahl H, Fledelius H, Nielsen N V
Department of Ophthalmology, University of Copenhagen, Rigshospitalet, Denmark.
Acta Ophthalmol (Copenh). 1994 Oct;72(5):635-8. doi: 10.1111/j.1755-3768.1994.tb07193.x.
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.
法布里病,即弥漫性躯体血管角质瘤,是一种X连锁隐性遗传性鞘糖脂代谢病,因溶酶体酶α-半乳糖苷酶A缺乏活性所致,导致中性鞘糖脂在包括血管内皮细胞和平滑肌细胞在内的各种组织中进行性细胞内沉积。视网膜血管阻塞较为罕见。我们报告一例25岁患法布里病男性发生视网膜中央动脉阻塞的病例,通过扫描激光眼底镜进行荧光素和吲哚菁绿血管造影得以确诊。