镰状皱襞、视网膜脱离与诺里病。

Falciform fold, retinal detachment, and Norrie's disease.

作者信息

Jacklin H N

出版信息

Am J Ophthalmol. 1980 Jul;90(1):76-80. doi: 10.1016/s0002-9394(14)75079-2.

Abstract

A patient with X-chromosome-linked recessive Norrie's disease, characterized by retinal falciform fold, retinal detachment, repeated vitreous hemorrhage, and retrolental membrane formation, was observed from age 6 weeks. The patient showed the clinical progression from these early retinal and vitreous changes to the more typical retrolental vascularized detached retina. Pathologic examination showed normal retinal tissue. Two other male relatives showed the end stages of Norrie's disease with bilateral congenital blindness, with and without mental retardation and deafness. Vitreoretinal surgery prevented phthisis bulbi from occurring the operated eye but was unsuccessful in reattaching the contracted retina.

摘要

一名患有X染色体连锁隐性诺里病的患者，其特征为视网膜镰状皱襞、视网膜脱离、反复玻璃体出血和晶状体后膜形成，从6周龄开始被观察。该患者表现出从这些早期视网膜和玻璃体变化到更典型的晶状体后血管化脱离视网膜的临床进展。病理检查显示视网膜组织正常。另外两名男性亲属表现出诺里病的终末期，伴有双侧先天性失明，有或没有智力迟钝和耳聋。玻璃体视网膜手术防止了手术眼发生眼球痨，但在使收缩的视网膜复位方面未成功。