中华眼底病杂志

中华眼底病杂志

视网膜色素变性的致病基因研究进展

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视网膜色素变性(RP)是一组视网膜光感受器异常导致的遗传性致盲眼底疾病。RP在遗传和临床表型上具有高度异质性,可分为单纯型RP和综合征型RP。主要遗传方式为常染色体显性、常染色隐性及伴X连锁遗传。随着基因测序技术的普及和临床应用,越来越多的致病基因被发现,这些基因主要在光感受器细胞及视网膜色素上皮细胞表达。深入正确认识RP致病基因,不仅为RP诊断和遗传咨询提供理论基础,还可为RP基因治疗提供指导。

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.

关键词: 色素性视网膜炎/遗传学; 基因; 突变; 综述

Key words: Retinitis pigmentosa/genetics; Genes; Mutation; Review

引用本文: 高凤娟, 张圣海, 胡方圆, 徐萍, 吴继红, 徐格致. 视网膜色素变性的致病基因研究进展. 中华眼底病杂志, 2018, 34(6): 605-608. doi: 10.3760/cma.j.issn.1005-1015.2018.06.019 复制

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