Sher N A, Reiff W, Letson R D, Desnick R J
Arch Ophthalmol. 1978 May;96(5):815-7. doi: 10.1001/archopht.1978.03910050421003.
A 16-year-old boy had a central retinal artery occlusion and was subsequently diagnosed as a hemizygote with Fabry's disease. The typical ocular manifestations in males with this inborn error of glycosphingolipid metabolism include whorl-like corneal epithelial infiltrates, retinal and conjunctival vessel tortuosity, and lenticular changes. The present case represents the first report of a retinal artery occlusion as an ocular complication of Fabry's disease.
一名16岁男孩发生视网膜中央动脉阻塞，随后被诊断为法布里病半合子。患有这种鞘糖脂代谢先天性缺陷的男性典型眼部表现包括涡状角膜上皮浸润、视网膜和结膜血管迂曲以及晶状体改变。本病例是法布里病眼部并发症视网膜动脉阻塞的首例报告。
