Current advance in genetics and clinical phenotype of Leber congenital amaurosis
10.3760/cma.j.issn.2095-0160.2013.12.018
- VernacularTitle:Leber先天性黑矇致病基因及相关临床表型研究进展
- Author:
Shu-ran, WANG
- Publication Type:Journal Article
- Keywords:
Leber congenital amaurosis;
Gene;
Phenotype;
Mechanism
- From:
Chinese Journal of Experimental Ophthalmology
2013;31(12):1178-1182
- CountryChina
- Language:Chinese
-
Abstract:
Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.
