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孔源性视网膜脱离的分子遗传学

Molecular genetics of rhegmatogenous retinal detachment.

作者信息

Richards A J, Scott J D, Snead M P

机构信息

Department of Pathology University of Cambridge Cambridge, UK.

出版信息

Eye (Lond). 2002 Jul;16(4):388-92. doi: 10.1038/sj.eye.6700195.

Abstract

Rhegmatogenous retinal detachment (RRD) most commonly occurs as a spontaneous event resulting from posterior vitreous detachment, typically between the ages of 40-70 yrs. It is also a feature in some inherited disorders, most commonly Stickler syndrome. The relationship between these inherited disorders and the spontaneous cases is unclear. Here in particular we review Stickler syndrome, and discuss the differential diagnosis of Stickler, Wagner and Marshall syndromes. Other rare inherited disorders associated with RRD are also briefly reviewed.

摘要

孔源性视网膜脱离(RRD)最常见的是作为一种由玻璃体后脱离引起的自发事件,通常发生在40至70岁之间。它也是一些遗传性疾病的特征,最常见的是Stickler综合征。这些遗传性疾病与自发病例之间的关系尚不清楚。在此,我们特别回顾Stickler综合征,并讨论Stickler、Wagner和Marshall综合征的鉴别诊断。还简要回顾了与RRD相关的其他罕见遗传性疾病。

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