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[遗传性白内障的遗传学]

[The genetics of hereditary cataract].

作者信息

Beby F, Morle L, Michon L, M Bozon, Edery P, Burillon C, Denis Ph

机构信息

Service d'Ophtalmologie, Pavillon C, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03.

出版信息

J Fr Ophtalmol. 2003 Apr;26(4):400-8.

Abstract

Congenital cataracts are an important cause of visual impairment in children. Approximately one-third of congenital cataracts are hereditary. The disease, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Autosomal dominant forms with high penetrance appear to be the most common. To date, thirteen genes have been implicated in cataractogenesis. The identification of the genetic mutations causing congenital cataracts will provide a better understanding of cataractogenesis in childhood and provide further insights into normal lens development.

摘要

先天性白内障是儿童视力损害的一个重要原因。大约三分之一的先天性白内障是遗传性的。当作为一种孤立的异常情况遗传时,这种疾病在表型和基因上具有异质性。具有高外显率的常染色体显性形式似乎最为常见。迄今为止,已有13个基因与白内障的发生有关。对导致先天性白内障的基因突变的识别将有助于更好地理解儿童白内障的发生机制,并为正常晶状体发育提供进一步的见解。

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