Progress in molecular genetic studies of retinitis pigmentosa.
10.3760/cma.j.issn.1003-9406.2015.02.028
- Author:
Youping LI
1
;
Zhenglin YANG
Author Information
1. Luzhou Medical College, Luzhou, Sichuan 646000, P.R. China. zliny@yahoo.com.
- Publication Type:Journal Article
- MeSH:
Genes, X-Linked;
Humans;
Proteins;
genetics;
Retinitis Pigmentosa;
genetics
- From:
Chinese Journal of Medical Genetics
2015;32(2):280-283
- CountryChina
- Language:Chinese
-
Abstract:
Retinitis pigmentosa (RP) is a group of inherited disorders which involve photoreceptors of the retina and can lead to visual loss. The genetic and clinical phenotypes of RP feature high heterogeneity. RP can be divided into nonsyndromic and syndromic types, both may feature autosomal dominant, autosomal reccesive and X-linked inheritance. So far, many genes have been identified, most of which are expressed in the photoreceptors or retinal pigment epithelium. Sixty-three genes have been identified in nonsyndromic RP. This paper reviews recent progress in the research of the genetics of RP.