Authors: Cai Bo, Liu Yang, Piao Shunyu, Wang Shaolin, Li Wenjing, Chen Lin, Tian Tian, Xue Yajun, Zhuang Wenjuan DOI: 10.3760/cma.j.cn115985-20190711-00307 Published 2020-04-10 Cite as Chin J Exp Ophthalmol, 2020,38(04): 322-330. Abstract [View PDF] [Read Full Text] Objective To describe the characteristics of genotype and phenotype in 3 families with X-linked retinoschisis (XLRS) due to RS1 mutations. […]
Tag: Mutation
Diagnosis of choroideremia in two Chinese families misdiagnosed as retinitis pigmentosa using next-generation sequencing
Authors:Wang Miaomiao, Wang Zhuoshi, Sun Yan, Xia Yang, He Wei DOI: 10.3760/cma.j.issn.2095-0160.2019.09.006 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 719-724. Abstract [View PDF] [Read Full Text] Objective To identify choroideremia and retinitis pigmentosa(RP)using next-generation sequencing(NGS)technology. Methods A cross-sectional study was adopted.The participants were two […]
Analysis of GJA3 mutation associated with a Chinese family with autosomal dominant congenital cataract by whole-exome sequencing
Authors：Liu Yuying, Wan Wencui, Yang Ge, Pang Xuena, Yang Guoguo, Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2016.10.011 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 916-919. Abstract [Download PDF] [Read Full Text] Congenital cataract is one of the important reasons for the blindness of children, and most congenital […]
Screening of TYR gene mutations and clinical classification in oculocutaneous albinism patients
Authors：Wang Liming, Han Ruifang, Ying Ming, Hao Peng, Li Ningdong DOI: 10.3760/cma.j.issn.2095-0160.2016.10.008 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 905-909. Abstract [Download PDF] [Read Full Text] Background Oculocutaneous albinism (OCA) is a hereditary disease of pigment absence in eyes, skin […]
Clinical phenotype assessment is very important in mutation analysis for patients with hereditary eye disease
Author: Li Yang DOI: 10.3760/cma.j.issn.2095-0160.2017.08.001 Published 2017-08-10 Cite as Chin J Exp Ophthalmol, 2017,35(8): 673-676. Abstract [Download PDF] [Read Full Text] Sanger sequencing technology is the most commonly used method for genetic analysis in inherited eye disease in the past few decades […]