Tag: BEST1 gene

Clinical phenotype and genetic characteristics in a Chinese Han family affected by autosomal dominant multifocal BVMD

2026，No. 01, Clinical Science, Current Issue, Highlights

Authors: Jiang Yongqiang, Han Jinfeng, Ding Huifang, Guo Haoyi DOI: 10.3760/cma.j.cn115989-20250303-00064 Published: 2026 -01 -10 Citation Jiang Yongqiang, Han Jinfeng, Ding Huifang, et al. Clinical phenotype and genetic characteristics in a Chinese Han family affected by autosomal dominant multifocal BVMD[J]. Chin J Exp Ophthalmol, 2026, 44(1):41-48. DOI: 10.3760/cma.j.cn115989-20250303-00064. ABSTRACT               [Download PDF]  [Read […]

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 […]