文章摘要

X连锁遗传的先天性白内障基因学研究进展

作者: 1季 亚男, 2张 娟美, 2赵 军
1 青岛大学医学部,青岛 266000
2 临沂市人民医院眼科,青岛大学第十一临床医学院,山东 临沂 276000
通讯: 赵 军 Email: zhaojunyy@sina.com
DOI: 10.3978/j.issn.2095-6959.2019.09.036
基金: 临沂市人民医院研究生基金(YJS2019032)。

摘要

先天性白内障是全世界儿童致盲的重要原因。约30%的患者有遗传因素,目前常见的3种孟德尔遗传类型常染色体显性遗传、常染色体隐性遗传、X连锁遗传均见于先天性白内障患者中。其中X连锁遗传的先天性白内障不仅合并青光眼、眼球震颤、小眼球等眼部疾病,还常合并肾、脑、软骨等全身病变,病情复杂、治疗困难。本文对X连锁遗传的先天性白内障基因学作一综述。
关键词: 先天性白内障;X连锁遗传;基因突变

Advances in gene research of X-linked genetic congenital cataract

Authors: 1JI Ya’nan, 2ZHANG Juanmei, 2ZHAO Jun
1 Medical College, Qingdao University, Qingdao 266000
2 Department of Ophthalmology, Linyi People’s Hospital, 11th Clinical Medical School of Qingdao University, Linyi Shandong 276000, China

CorrespondingAuthor:ZHAO Jun Email: zhaojunyy@sina.com

Foundation: This work was supported by the Postgraduate Fund of Linyi People’s Hospital, China (YJS2019032).

Abstract

Congenital cataract is an important cause of blindness in children all over the world. About 30% of the cases have genetic factors. At present, three common Mendelian genetic types including autosomal dominant inheritance, autosomal recessive inheritance and X-linked inheritance have been reported in congenital cataract. X-linked congenital cataract is not only complicated with eye diseases such as glaucoma, nystagmus and microphthalmos but also often complicated with systemic diseases such as kidney, brain, cartilage, etc. It is complicated and difficult to treat. This article reviews gene research of X-linked genetic congenital cataract.
Keywords: congenital cataract; X-linked inheritance; gene mutation