Progress in research on pathogenic genes of retinitis pigmentosa
10.3760/cma.j.issn.1005-1015.2018.06.019
- VernacularTitle:视网膜色素变性的致病基因研究进展
- Author:
Fengjuan GAO
1
;
Shenghai ZHANG
;
Fangyuan HU
;
Ping XU
;
Jihong WU
;
Gezhi XU
Author Information
1. 复旦大学附属眼耳鼻喉科医院眼科研究院
- Keywords:
Retinitis pigmentosa/genetics;
Genes;
Mutation;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2018;34(6):605-608
- CountryChina
- Language:Chinese
-
Abstract:
Retinitis pigmentosa (RP) is a group of hereditary blinding fundus diseases caused by abnormalities in photoreceptors of the retina.RP is highly heterogeneous in hereditary and cdinical phenotypes.It can be divided into simple type RP and syndrome type RP.The main inheritance patterns are autosomal dominant,autosomal recessive inheritance and X-linked inheritance.With the popularization and clinical application of gene sequencing technology,more and more disease-causing genes have been discovered,and these genes are mainly expressed in photoreceptor cells and retinal pigment epithelial cell.ln-depth understanding of RP pathogenic genes not only provides a theoretical basis for RP diagnosis and genetic counseling,but also provides guidance for RP gene therapy.
