Tag: Clinical features

Clinical features and genetic variations of Axenfeld-Rieger syndrome

Authors: Wang Qi,  Shao Zhengbo,  Yuan Huiping DOI: 10.3760/cma.j.cn115989-20200301-00127 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 920-924. Abstract                            【Download PDF】 【Read Full Text】 Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be […]

Clinical features and genetic variations of Axenfeld-Rieger syndrome

Authors: Wang Qi,  Shao Zhengbo,  Yuan Huiping DOI: 10.3760/cma.j.cn115989-20200301-00127 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 920-924. Abstract                            【Download PDF】 【Read Full Text】 Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be […]

Clinical features of keratoconus and influencing factors of disease severity

Authors: Zhu Meng,  Yang Kaili,  Xu Liyan,  Fan Qi,  Gu Yuwei,  Wang Qing,  Yin Shanshan,  Pang Chenjiu,  Zhao Dongqing,  Ren Shengwei DOI: 10.3760/cma.j.cn115989-20220811-00368 Published 2023-05-10 Cite as Chin J Exp Ophthalmol, 2023, 41(5): 484-492. Abstract                              [Download PDF] [Read Full Text] Objective To […]

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 […]