眼科学报2025，Vol.40Issue(2)：144-154,11.DOI:10.12419/24111001
先天性静止性夜盲疾病谱及其基因型-表型研究现状与进展
Congenital stationary night blindness:an update and review of the disease spectrum and genotype-phenotype correlations
摘要
Abstract
Congenital Stationary Night Blindness(CSNB)represents a group of highly heterogeneous inherited retinal diseases(IRDs)primarily caused by impaired signal transmission between photoreceptor cells and bipolar cells in the retina.The main clinical features include stationary night blindness and dark adaptation dysfunction,often accompanied by early-onset myopia,nystagmus,strabismus,and hyperopia.Electroretinography(ERG)plays a crucial role in the diagnosis,classification,and therapeutic management of CSNB.Although CSNB is classified as a rare disease due to its low incidence,its true prevalence is likely underestimated,partly because of its mild symptoms,inconspicuous fundus manifestations,and frequent oversight of retinal function tests in clinical practice,leading to high rates of underdiagnosis and misdiagnosis.With advances in molecular genetics,extensive research has elucidated the pathogenic mechanisms of various genetic defects in CSNB,particularly those associated with early-onset myopia.These studies have also enhanced our understanding of retinal signal transduction and the pathogenesis of myopia.However,gene therapy for CSNB remains in its early stages.This review aims to comprehensively explore the disease spectrum of CSNB,including clinical manifestations,imaging and functional phenotypic characteristics across different subtypes,and associated genetic pathogenic mechanisms.We also summarize genotype-phenotype correlations,review the latest research advancements,and discuss future directions.By doing so,this review seeks to improve the understanding of CSNB among domestic researchers,provide guidance for clinical diagnosis and treatment,and offer new insights for future research.关键词
先天性静止性夜盲/Riggs型先天性静止性夜盲/Schubert-Bornshein型先天性静止性夜盲/白点状眼底/小口病/视网膜电图/基因型-表型关联/发病机制Key words
congenital stationary night blindness(CSNB)/riggs-type CSNB/schubert-bornschein/fundus albipunctatus/oguchi disease/pathophysiology/electroretinography/genotype-phenotype correlations分类
医药卫生引用本文复制引用
申眉,李世迎..先天性静止性夜盲疾病谱及其基因型-表型研究现状与进展[J].眼科学报,2025,40(2):144-154,11.基金项目
国家重点基础研究发展计划项目(2024YFA1108700) （2024YFA1108700）
福建省自然科学基金面上项目(2022J01110650) （2022J01110650）
厦门市医工结合科技计划项(3502Z20224030).This work was supported by National Key Research and Development Program of China(2024YFA1108700) （3502Z20224030）
Nature Science Foundation of Fujian Province of China(2022J01110650) （2022J01110650）
Scientific and technological projects with combination of medicine and engineering in Xiamen of China(3502Z20224030). （3502Z20224030）
