Authors: Zhou Xiaomin, Huang Hui, Wang Ying, Wu Jing, Fan Ning, Jiang Shanming, Liu Xuyang DOI: 10.3760/cma.j.issn.2095-0160.2015.08.006 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 699-703. Abstract [Download PDF] [Read Full Text] Background Retinitis pigmeutosa (RP) is a progressive inheritance disease. […]
Tag: Next generation sequencing
Application of next-generation sequencing in detection of mutation gene in a Chinese pedigree with congenital cataract
Authors: Xiao Hai, Zhang Hui, Li Tao, Wu Dong, Zhang Chaoyang, Shi Weili, Qin Litao, Liao Shixiu DOI: 10.3760/cma.j.issn.2095-0160.2015.08.008 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 705-709. Abstract [Download PDF] [Read Full Text] Background Due to the genetic heterogeneity of […]
Genotypic and phenotypic analysis of RHO gene variants in a Chinese Han autosomal dominant retinitis pigmentosa family
Authors: Zhang Yuwei, Lou Guiyu, Yang Ke, Yang Lin, Zhu Qing, Lei Bo DOI: 10.3760/cma.j.cn115989-20201217-00848 Published 2021-08-10 Cite asChin J Exp Ophthalmol, 2021, 39(8): 708-713. Abstract [View PDF] [Read Full Text] Objective To analyze the pathogenic genes and clinical phenotypes of a Chinese Han family […]
Clinical and genetic characteristics of patients with KCNV2-associated cone dystrophy
Authors: Zhu Tian, Li Hui, Wang Lei, Wei Xing, Wu Shijing, Sun Zixi, Sui Ruifang DOI: 10.3760/cma.j.cn115985-20200117-00030 Published 2020-04-10 Cite as Chin J Exp Ophthalmol, 2020,38(04): 312-318. Abstract [View PDF] [Read Full Text] Objective To access the genetic defects and clinical characteristics […]
Unraveling the genetic cause of juvenile neuronal ceroid-lipofuscinosis
Authors: Shen Renjuan, Zhou Rong, Feng Zhuokun, Wang Xiaofang, Chen Chong, Chen Zhenji, Jin Zibing DOI: 10.3760/cma.j.issn.2095-0160.2020.01.009 Published 2020-01-10 Cite as Chin J Exp Ophthalmol, 2020,38(01): 45-49. Abstract [View PDF] [Read Full Text] Objective To analyze the clinical symptoms and hereditary information of suspicious juvenile neuronal […]
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 […]
Screening of pathogenic mutation in a Chinese family with congenital pulverulent cataract
Authors:Ji Kangkang, Gu Zhengyu, Wang Yaru, Bao Weili, Liao Rongfeng DOI: 10.3760/cma.j.issn.2095-0160.2019.09.011 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 740-744. Abstract [View PDF] [Read Full Text] Objective To analysis the pathogenic mutation and the clinical characteristics of a three generation family with congenital pulverulent […]
Rapid identification of pathogenic mutations in sporadic hereditary retinal dystrophies using targeted next-generation sequencing
Authors: Fang Xinhe, Zhang Fangxia, Zhu Yan, Liu Yani, Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2017.12.009 Published 2017-12-10 Cite as Chin J Exp Ophthalmol, 2017,35(12): 1097-1103. Abstract [Download PDF] [Read Full Text] Background Hereditary retinal diseases (HRDs) are a group of retinal degenerative diseases with significant genetic and clinical heterogeneities.Traditional techniques are challenging […]