Clinical features and identification of gene mutation in families with familial exudative vitreoretinopathy

Tongmei ZHANG; Mei HAN; Ming YING; Peng HAO; Ruifang HAN

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Clinical features and identification of gene mutation in families with familial exudative vitreoretinopathy

VernacularTitle:家族性渗出性玻璃体视网膜病变患者基因突变检测结果及临床特征分析
Author: Tongmei ZHANG ¹ ; Mei HAN ; Ming YING ; Peng HAO ; Ruifang HAN
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1. 300020,天津市眼科医院天津医科大学眼科临床学院天津市眼科学与视觉科学重点实验室天津市眼科研究所
Keywords: Retinal diseases/genetics; Retinal diseases/etiology; Genes; Mutation; Sequence analysis
From: Chinese Journal of Ocular Fundus Diseases 2018;34(6):556-561
CountryChina
Language:Chinese
Abstract: Objective To identify mutations in NDP,FZD4,LRPS,TSPAN12 in Chinese families with familial exudative vitreoretinopathy (FEVR) and observe the clinical features.Methods Retrospective case series study.The 9 patients (18 eyes) and 5 normal members from 4 unrelated families were included in the study.The patients medical history and family history were collected in detail.All patients underwent best corrected visual acuity (BCVA),slit-lamp biomicroscopy,fundus colorized photography,fundus fluorescein angiography (FFA).Genomic DNA were collected from all the patients.Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries ofNDP,FZD4,LRP5 and TSPAN12 gene.Polyphen and SWT programs were used to predict the effects on the structure and functional properties of mutant protein.Results There were two affected individuals in the family 2 carried LRP5 gene mutation [c.1330C＞T (p.R444C)] in exon 6 by sequence analysis.A score of 0.882 was acquired by Polyphen program analysis.And the missense change was predicted to be pathogenic by SIFT.Fundus changes of the proband showed angioplasia,tortuosity of peripheral vessels.And temporal dragging of the optic disc,peripheral avascular zone,neovascularization were found in FFA.Brush-like and straight of peripheral vessels were found in I 1.No variant was found in NDP,FZD4 and TSPAN12 gene.Conclusion Our study supports the gene mutation c.1330C＞T (p.R444C) of LRP5 is pathogenesis of FEVR.Patients with the same mutation could have variable phenotypic characteristics.