Authors: Wang Lihong, Wang Zhili, Chen Xiao, Wei Jia, Chen Kang, Cui Longjiang DOI: 10.3760/cma.j.cn115989-20231227-00224 Published： 2024 -10 -10 · Citation: Wang Lihong, Wang Zhili, Chen Xiao,et al. Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1[J]. Chin J Exp Ophthalmol, 2024, 42(10):932-937. DOI: 10.3760/cma.j.cn115989-20231227-00224. ABSTRACT […]
Tag: Phenotype
Chinese expert consensus on diagnosis and treatment of Leber congenital amaurosis (2023)
Authors: Chinese Hereditary Ocular Disease Diagnosis and Treatment Group, Chinese Hereditary Ocular Disease Alliance DOI: 10.3760/cma.j.cn115989-20230523-00188 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 833-842. Abstract 【Download PDF】 【Read Full Text】 Leber congenital amaurosis (LCA) is a group of early-onset hereditary […]
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 […]
VPS13B gene variation and clinical phenotype of Cohen syndrome in a Chinese Han family
Authors: Li Ruimin, Guo Qingge, Li Ya, You Ya, Lei Bo DOI: 10.3760/cma.j.cn115989-20230508-00168 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 871-878. Abstract 【Download PDF】 【Read Full Text】 Objective To analyze the pathogenicity and clinical characteristics of patients with Cohen syndrome caused […]
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 […]
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 […]