Research progress on genetic mutation of congenital cataract
10.3980/j.issn.1672-5123.2020.2.13
- VernacularTitle:遗传相关的先天性白内障基因突变的研究进展
- Author:
Ya-Nan Ji
1
Author Information
1. 1Department of Medicine, Qingdao University, Qingdao 266000, Shandong Province, China; 2Department of Ophthalmology, Linyi People's Hospital, Linyi 276000, Shandong Province, China; 3Clinical College of Weifang Medical University, Weifang 261000, Shandong Province, China; 4Department of Ophthalmology, the Affiliated Hospital of Qingdao University, Qingdao 266000, Shandong Province, China
- Publication Type:Journal Article
- Keywords:
congenital cataract;
heredity;
gene mutation;
crystallin gene;
membrane protein gene;
transcription regulator gene
- From:
International Eye Science
2020;20(2):255-257
- CountryChina
- Language:Chinese
-
Abstract:
Cataract is a kind of eye disease that causes lens metabolic disorder and protein degeneration and turbidity due to various reasons. Congenital cataract is especially serious. It is a common eye disease that affects the visual development of infants. It can inhibit the development of visual pathway and cause permanent blindness. About one-third of the cases are genetically related, of which autosomal dominant inheritance is the most common genetic mode. It's occurrence and development may be related to genes involved in lens development. Up to now, hundreds of mutation sites in more than 40 genes have been found to be associated with congenital cataract. This article will review the genetic research progress of congenital cataract.
- Full text:202002013.PDF
