Tag: Pedigree

Clinical and molecular genetic study of a Chinese Han family with X-linked retinoschisis

Wang Tingting,  Zhu Yihua,  Fan Mengjie,  Luo Xiaoling,  Zhang Linyan,  Zhang Daren,  Ding Xiaoyan,  Liu Xuyang DOI: 10.3760/cma.j.cn115989-20210922-00523 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 864-870. Abstract                            【Download PDF】 【Read Full Text】 Objective To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with […]

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

·Clinical Research· Genotypes and ocular and systemic clinical phenotypes of the Hermansky-Pudlak syndrome Yang Shangying1, Cheng Wanyu1, Zhang Yan2, Sheng Xunlun1,3 1Ningxia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, Yinchuan 750001, China; 2Electron Microscope Room, Science and Technology Center, Ningxia Medical University, Yinchuan 750001, China; 3Gansu Aier Optometry Hospital, Lanzhou 730000, China Corresponding […]

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

·Clinical research· Pathogenic mutation screening in a family with Axenfeld-Rieger Syndrome by whole exome sequencing Wang Qi, Liu Xinna, Shao Zhengbo, Yuan Huiping Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical Universiiy, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Educatton, Future Medical Laboratory, the Second Affiilated Hospital of Harbin Medical […]

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

·Clinical Research· Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing Deng Fang, Cao Yingjie, Xie Lijing, Chen Shaowan, Xiao Xiaoqiang, Zhang Mingzhi Joint Shantou International Eye Center of Shantou University & The Chinese University of Hong Kong, Shantou 515041, China Corresponding author: Xiao Xiaoqiang, Email: […]

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

                           •Clinical Research• Clinical and genetic characteristics of a Han Chinese family with autosomal recessive enhanced S-cone syndrome Jiang Yongqiang, Chen Kang, Li Jie, Guo Haoyi Department of Ophthalmology, Henan Provincial People’s Hospital, Henan Eye Hospital, Henan Eye Institute, Zhengzhou 450003, China Corresponding […]

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

·Clinical Research· Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia Zhu Tian, Li Hui, Wei Xing, Wu Shijing, Sun Zixi, Sui Ruifang Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China […]

Genetic analysis of a Chinese family with cataract-microcornea syndrome

                           ·Clinical research· Genetic analysis of a Chinese family with a cataract-microcornea syndrome Zhang Daren1, Lu Lan2, Zeng Jie3, Li Danli4, Wang Yun4, Wang Xizhen4, Huang Li2, Fan Ning4, Liu Xuyang1,5 1Xiamen Eye Center of Xiamen University, Xiamen 361000, China; 2Department of Ophthalmology, […]

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 […]