作　　者： ; ; ;

机构地区： 中华医学会

出　　处： 《中华医学遗传学杂志》 2020年第3期295-299,共5页

摘　　要： 视网膜色素变性(retinitis pigmentosa,RP)是一类由视杆细胞首先受累为主的进行性遗传性视网膜变性疾病。初期以视杆细胞功能异常为主,同时或随后可合并视锥细胞功能异常。随着疾病的进展,视功能进行性受损,直至全盲,眼底出现以色素异常为主的多种形态的视网膜变性改变。RP具有高度的遗传异质性和表型多样性。已发现的致病基因有90个。本指南从RP的病因与发病机制、疾病诊断、临床咨询等方面进行总结,旨在规范其临床诊疗,供临床医师参考。 Retinitis pigmentosa(RP)is a group of hereditary retinitis disorders which mainly affect the rod cells.In the early stage,the function of rod cells is affected.At the same time or later,the function of cone cells can also be affected.With the progress of the disease,the visual function is gradually damaged until the patient becomes completely blind.Many types of morphological changes suggestive of retinal degeneration may be noticed in the fundus,in particular pigment abnormality.RP features great genetic heterogeneity and phenotypic diversity.Over 90 pathogenic genes have so far been discovered.This guideline aims to standardize the clinical diagnosis and treatment of RP from the aspects of etiology,pathogenesis,genetic diagnosis and clinical consultation.

关 键 词： 视网膜色素变性 实践指南

领　　域： []