Tag: Gene mutation

Gene mutation analysis of 12 families with congenital cataract

2022, No. 10, Clinical Science

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

2022, No. 10, Current Issue, Highlights, Review

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 […]