Category: Clinical Science

Association between visual function and optic fiber layer thickness after gene therapy for Leber hereditary optic neuropathy

Authors: Yuan Jiajia,  Zhang Yong,  Chen Changzheng,  Yang Xueying,  Miao Qingmei,  Kai Yoon Fan,  Li Bin DOI: 10.3760/cma.j.cn115989-20210409-00242 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 908-913. Abstract                                       [View PDF] [Read Full Text]  Objective To investigate […]

Clinical and molecular genetics research of a Chinese Han family with Wagner syndrome

Authors: Cai Suping,  Zhang Daren,  Luo Xiaoling,  Huang Longxiang,  Wang Tingting,  Xu Tingting,  Liu Xuyang DOI: 10.3760/cma.j.cn115989-20210318-00184 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 914-919. Abstract                                       [View PDF] [Read Full Text]  Objective To explore the […]

Genotypes and clinical phenotypes of Hermansky-Pudlak syndrome

Authors: Yang Shangying,  Cheng Wanyu,  Zhang Yan,  Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20210728-00430 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 920-926. Abstract                                       [View PDF] [Read Full Text]  Objective To analyze the genotypes and clinical phenotypes of two families with Hermansky-Pudlak syndrome […]

Screening of pathogenic mutation in a family with Axenfeld-Rieger syndrome by whole exome sequencing

Authors: Wang Qi,  Liu Xinna,  Shao Zhengbo,  Yuan Huiping DOI: 10.3760/cma.j.cn115989-20200802-00555 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 929-934. Abstract                                       [View PDF] [Read Full Text]  Objective To identify disease-causing variation in a Chinese family with Axenfeld-Rieger syndrome (ARS) through […]

Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing

Authors: Deng Fang,  Cao Yingjie,  Xie Lijing,  Chen Shaowan,  Xiao Xiaoqiang,  Zhang Mingzhi DOI: 10.3760/cma.j.cn115989-20200612-00425 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 935-939. Abstract                                       [View PDF] [Read Full Text]  Objective To identify the disease-causing mutation in a Chinese family with Stickler […]

Clinical and genetic characteristics of a Han Chinese family with autosomal recessive enhanced S-cone syndrome

Authors:Jiang Yongqiang,  Chen Kang,  Li Jie,  Guo Haoyi DOI: 10.3760/cma.j.cn115989-20210902-00490 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 940-947. Abstract                                     [View PDF] [Read Full Text]  Objective To analyze the clinical phenotypes and pathogenic gene of a Han […]

Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia

Authors: Zhu Tian,  Li Hui,  Wei Xing,  Wu Shijing,  Sun Zixi,  Sui Ruifang DOI: 10.3760/cma.j.cn115989-20210909-00506 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 948-954. Abstract                                       [View PDF] [Read Full Text]  Objective To identify the clinical characteristics […]

Genetic analysis of a Chinese family with cataract-microcornea syndrome

Authors: Zhang Daren,  Lu Lan,  Zeng Jie,  Li Danli,  Wang Yun,  Wang Xizhen,  Huang Li,  Fan Ning,  Liu Xuyang DOI: 10.3760/cma.j.cn115989-20200224-00099 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 955-959. Abstract                                       [View PDF] [Read Full Text]  […]

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 […]

A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree

Authors: Gu Jing,  Yi Haoan,  Zha Xu,  Kong Yanbo,  Jiang Weiyang,  Yang Fang,  Li Fan,  He Yongshu DOI: 10.3760/cma.j.cn115989-20201012-00686 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 966-971. Abstract                                       [View PDF] [Read Full Text]  Objective To identify the pathogenic gene and inheritance […]