视网膜色素变性伴发高度近视的临床特征和诊治研究进展  

Retinitis Pigmentosa Accompanied by High Myopia:Clinical Characteristics,Diagnosis,and Treatment

作　　者：冯春云 方肖云[2] Chunyun Feng;Xiaoyun Fang(Department of Ophthalmology,Quzhou People's Hospital,Quzhou 324000,China;Eye Center of Second Affiliated Hospital,Zhejiang University,Eye Hospital of Zhejiang University,Hangzhou 310000,China)

机构地区：[1]衢州市人民医院眼科,衢州324000 [2]浙江大学医学院附属第二医院眼科,杭州310000

出　　处：《中华眼视光学与视觉科学杂志》2022年第6期477-480,共4页Chinese Journal Of Optometry Ophthalmology And Visual Science

摘　　要：视网膜色素变性(RP)是全球最常见的致盲性眼病之一,它具有高度遗传异质性。患者因感光细胞和色素上皮细胞功能逐渐丧失,表现出夜盲、管状视野,甚至失明。但研究表明,有些RP患者还会伴发其他眼病如白内障、高度近视,其中,RP伴发高度近视因对视力损害严重而不断被关注。笔者回顾了近年来RP伴发高度近视病例的相关报道,通过总结该类患者的临床特征和诊治研究进展,旨在了解该病的基因型-表型关系,为该病的诊断和遗传咨询提供一定的理论依据。Retinitis pigmentosa(RP)is the most common form of inherited eye disease blindness worldwide.Due to the progressive degeneration of photoreceptors and retinal pigment epithelium,patients who are diagnosed with RP usually present with constriction of the visual fields,night blindness and eventual loss of central vision.Moreover,some RP patients may carry other ocular symptoms,such as cataract and high myopia.Therefore,RP combined with high myopia(HM)is the area of greatest interest for its severe visual impairment.In this review,we summarize the genotype-phenotype correlation and clinical characteristics,and determine the causative genes for RP with HM.Altogether,this review provides a new insight for the disease and makes a contribution to the genetic diagnosis of the disease and counseling for the disease.

关 键 词：高度近视 视网膜色素变性 基因型-表型关系 致病基因 

分 类 号：R774.13[医药卫生—眼科] R778.11[医药卫生—临床医学]