Authors: Wang Lihong, Wang Zhili, Chen Xiao, Wei Jia, Chen Kang, Cui Longjiang DOI: 10.3760/cma.j.cn115989-20231227-00224 Published： 2024 -10 -10 · Citation: Wang Lihong, Wang Zhili, Chen Xiao,et al. Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1[J]. Chin J Exp Ophthalmol, 2024, 42(10):932-937. DOI: 10.3760/cma.j.cn115989-20231227-00224. ABSTRACT […]
Tag: Gene mutation
Gene mutation analysis of 12 families with congenital cataract
Authors: Bai Zhouxian, Shao Jingzhi, Liu Lina, Kong Xiangdong DOI: 10.3760/cma.j.cn115989-20200408-00246 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 960-965. Abstract [View PDF] [Read Full Text] Objective To analyze the clinical manifestations of congenital cataract in […]
Progress in the research on clinical features of Bestrophinopathies and mutations in BEST1 gene
Authors: Yang Shangying, Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20200921-00659 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 976-980. Abstract [View PDF] [Read Full Text] Bestrophinopathies are a group of inherited macular dystrophies caused by BEST1 gene mutations including Best vitelliform macular dystrophy, adult-onset […]