解放军医学院学报2017，Vol.38Issue(5)：436-439,444,5.DOI:10.3969/j.issn.2095-5227.2017.05.014
USH2A基因突变致非综合征性视网膜色素变性的临床表型分析
Clinical phenotype of nonsyndromic retinitis pigmentosa with compound heterozygous mutations of USH2A
李淑贤 1刘铁城 1陈晓菲 1代艾艾 1高旭辉 1李润璞1
作者信息
摘要
Abstract
Objective To study the phenotypic characteristics and genetic classification of nonsyndromic retinitis pigmentosa in a Chinese family, and screen the disease-causing gene mutations. Methods The family in the study came from Shandong Province, which included 3 generations with 21 members (4 patients, 17 healthy individuals). The peripheral venous blood of 8 individuals(4 patients,4 healthy individuals) in the family were collected. Ophthalmological examinations including uncorrected visual acuity, best corrected visual acuity, biomicroscopy of the anterior eye segment, applanation tonometry, fundus examination, spectral-domain optical coherence tomography (SD-OCT), and electroretinogram (ERG) were performed to the eight members. A pedigree figure was drawn after the historytaking. Then, DNA isolation and sequencing were performed to determine the inheritance pattern and screen the suspected mutations.Results Night blindness, decreased visual acuity and visual field constriction were observed in four patients, and fundus photography showed a waxy yellow optic nerve ead,attenuation of vessels, bone spicule deposits in the retina. The four patients in the family were all diagnosed as nonsyndromic retinitis pigmentosa, and symptom emerged earlier in Ⅲ 2 and Ⅲ 5 of the third generation than Ⅱ 7 and Ⅱ 9 of the second generation. Conclusion The USH2A gene is the disease-causing gene of the family, and its inheritance pattern is autosomal recessive. Compound heterozygous mutations in USH2A (c.4649C > A and c.970G > A) may cause the pathological changes.关键词
非综合征性视网膜色素变性/USH2A/基因突变/表型/家系Key words
nonsyndromic retinitis pigmentosa/USH2A/gene mutation/phenotype/genealogical tree分类
医药卫生引用本文复制引用
李淑贤,刘铁城,陈晓菲,代艾艾,高旭辉,李润璞..USH2A基因突变致非综合征性视网膜色素变性的临床表型分析[J].解放军医学院学报,2017,38(5):436-439,444,5.
