Authors: Xie Ting, Chen Qingshan, Liang Jia, Fang Dong, Chen Lu, Zhang Shaochong DOI: 10.3760/cma.j.cn115989-20230626-00023 Published： 2024 -10 -10 Citation: Xie Ting, Chen Qingshan, Liang Jia, et al. Genetic analysis of a family with posterior segment microphthalmia-retinoschisis and drusen syndrome[J]. Chin J Exp Ophthalmol, 2024, 42(10): 919-925. DOI: 10.3760/cma.j.cn115989-20230626-00023. ABSTRACT […]
Tag: Pedigree
Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6
Authors: Wang Dongdong, Du Jiao, Huang Zixu, Dan Handong, Lin Zuopeng, Song Zongming DOI: 10.3760/cma.j.cn115989-20240613-00151 Published： 2024 -10 -10 · Citation: Wang Dongdong, Du Jiao, Huang Zixu,et al. Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6[J]. Chin J Exp Ophthalmol, 2024, 42(10): 927-931. DOI: 10.3760/cma.j.cn115989-20240613-00151. ABSTRACT […]
Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1
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 […]
Clinical characteristics and genetic etiology of a Chinese pedigree with MFRP-associated nanophthalmos
Authors: Tao Jing, Shen Renjuan, Jin Zibing DOI: 10.3760/cma.j.cn115989-20231020-00146 Published: 2024 -09 -10 Citation: Tao J, Shen RJ, Jin ZB. Clinical characteristics and genetic etiology of a Chinese pedigree with MFRP-associated nanophthalmos[J]. Chin J Exp Ophthalmol,2024,42(9):820-826. DOI: 10.3760/cma.j.cn115989-20231020-00146. ABSTRACT [Download PDF] [Read Full Text] Objective To explore the clinical characteristics and genetic etiology of a […]
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 […]