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目的:分析家族性渗出性玻璃体视网膜病变(FEVR)一家系的临床表型和基因突变特点。方法:采用家系调查研究方法，收集2019年10月于西安交通大学第一附属医院诊断为FEVR的1个汉族家系2代3名成员。对患者及其父母进行视力、眼压、裂隙灯显微镜和广角荧光素眼底血管造影(FFA)检查，采集3名成员外周血送检，应用高通量测序法筛选致病基因，针对检测出的变异位点进行Sanger测序验证，根据美国医学遗传学协会(ACMG)指南和Mutation Taster、Polyphen-2、PROVEN及REVEL软件对新发现的变异位点进行致病性分析。结果:先证者，男，27岁，裸眼视力(UCVA)右眼1.0，左眼1.2，眼压正常，眼底检查可见双眼颞侧周边部视网膜血管迂曲扩张，FFA示双眼周边视网膜血管扩张成毛刷样改变并有无灌注区形成。先证者母亲51岁，最佳矫正视力(BCVA)双眼均为1.0，眼底检查可见左眼颞侧周边视网膜血管迂曲，FFA示左眼颞侧周边视网膜末梢血管荧光素渗漏。先证者父亲56岁，BCVA双眼均为1.0，眼底可见视盘周围萎缩环及豹纹状眼底，FFA未见眼底血管有明显荧光素渗漏。基因检测结果显示n LRP5基因c.4110T>G(p.Cys1370Trp)和n FSCN2基因c.1495G>A(p.Gly499Ser)2个新的突变位点。根据ACMG指南，c.4110T>G为临床意义未明的变异，Mutation Taster、Polyphen-2、PROVEN及REVEL软件预测该变异会对基因或基因产物造成有害影响，REVEL评分为0.93，可能为致病变异。n 结论:LRP5基因c.4110T>G(p.Cys1370Trp)可能是引起FEVR的1个新的突变位点，丰富了n LRP5基因的突变谱。n “,”Objective:To investigate the clinical and genetic mutation characteristics of a pedigree with familial exudative vitreoretinopathy (FEVR) associated with a n LRP5 gene mutation.n Methods:A pedigree investigation was performed in a two-generation Chinese Han family with FEVR, which was diagnosed in The First Affiliated Hospital of Xi'an Jiaotong University.Three family members, the proband and his parents, underwent ophthalmic examination, including visual acuity, intraocular pressure, slit-lamp microscopy, fundoscopy and wild-field fundus fluorescein angiography (FFA), to clinically characterize the FEVR phenotype.Peripheral blood of the families were collected for high-throughput sequencing and bioinformatics analysis to identify the pathogenic gene.Sanger sequencing verification was conducted for the detected mutation.The pathogenicity of identified mutations was analyzed according to the guidelines of the American Association of Medical Genetics (ACMG) with software such as Mutation Taster, Polyphen-2, PROVEN and REVEL.This study adhered to the Declaration of Helsinki and was approved by an Ethics Committee of The First Affiliated Hospital of Xi'an Jiaotong University (No.2017-740). Written informed consent was obtained from each subject.Results:The proband was a 27-year-old male.Uncorrected visual acuity (UCVA) was 1.0 for his right eye and 1.2 for his left eye.Fundoscopy showed vascular tortuosity and vasodilation in the temporal peripheral retina of both eyes.FFA indicated that hairbrush-like vasculature and non-perfusion lesion in peripheral retina.The best-corrected visual acuity (BCVA) of the proband's mother, a 51-year old female, was 1.0 for the both eyes.Temporal retinal vascular tortuosity in her left eye was found with fluorescein leakage detected by FFA.The BCVA of the proband's father, a 56-year-old male, was 1.0 for both eyes.Leopard fundus and optic disc atrophy were visible.FFA result was normal.The result of genetic test showed that there were two novel gene mutations in the family withn LRP5 gene c. 4110T>G(p.Cys1370Trp) andn FSCN2 gene c. 1495G>A(p.Gly499Ser). According to guidelines of ACMG,n LPR5 c. 4110T>G was a mutation with uncertain significance.Multiple software, such as MutationTaster, Polyphen-2, PROVEN and REVEL predicted that LRP5 c. 4110T>G mutation might cause detrimental effects on genes or gene products.REVEL scale was 0.93, which indicated that it might be a pathogenic variant.n Conclusions:LRP5 gene c. 4110T>G(p.Cys1370Trp) may be a novel mutation for FEVR, which enriches the mutation spectrum ofn LRP5 gene.n