Fabry病眼科临床表现分析

Ocular manifestations analysis of Fabry's disease

目的总结Fabry病患者的眼部特征表现。方法 回顾性分析12个家系中16例被确诊为Fabry病患者的眼科检查结果。结果 16例患者中,15例(93.8%)患者出现眼部异常,其中6例(37.5%)患者出现结膜血管迂曲和扩张;9例(56.3%)患者出现角膜轮辐状混浊;10例(62.5%)患者出现晶状体混浊;12例(75.0%)患者出现视网膜血管迂曲和扩张,1例患者表现为视网膜中央静脉栓塞。结论 Fabry病常伴有典型的眼部异常表现,应引起临床眼科医师的注意。

Objective To assess the ocular manifestations of Fabry＂ s disease. Methods The ophthalmological examination results of 16 patients in 12 pedigrees with Fabry＇ s disease were analyzed retrospectively. Results In 15 patients, 15 patients（93.8% ） had ocular deformity,5 patients（37.5% ） of which had vascular tortuosity of conjunctiva,9 patients（55.3% ） with cornea verticillata,10 patients（62.5% ） with lenticular opacities, 12 patients（75.0% ） with vascular tortuosity of retina, and l patient with central retinal vein occlusion. Conclusion Fabry＇ s disease is with obvious ocular manifestations, and should be paid more attention by the ophthalmologists.