Authors: Fan Xue, Rong Weining Corresponding author: Rong Weining, Email: moc.621624gniniewgnor Published:2026-07-10 DOI: 10.3760/cma.j.cn115989-20230731-00054 ABSTRACT Cilia widely exist in most cell types of the human body, and the dysfunction of cilia can affect various organs. The outer segment of the photoreceptor is a kind of highly differentiated primary sensory cilium, and its structure and function […]
Tag: Genotype
Research progress on the correlation between genotypes and phenotypes of nanophthalmos
Authors: Fu Yuxiao, Tao Jing, Wang Xuwen DOI: 10.3760/cma.j.cn115989-20250116-00016 Published: 2025 -07 -10 Citation Fu Yuxiao, Tao Jing, Wang Xuwen. Research progress on the correlation between genotypes and phenotypes of nanophthalmos[J]. Chin J Exp Ophthalmol, 2025, 43(7):656-663. DOI: 10.3760/cma.j.cn115989-20250116-00016. ABSTRACT [Download PDF] [View Full Text] Nanophthalmos (NNO) is a hereditary, congenital, […]
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 […]
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 […]
Genotype and clinical phenotype analysis of a five-generation Ningxia family with autosomal dominant retinitis pigmentosa pedigree
Authors: Rong Weining, Zhang Fangxia, Liu Yani, Lei Bo, Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20190212-00050 Published 2020-08-10 Cite as Chin J Exp Ophthalmol, 2020,38(08): 675-679. Abstract [View PDF] [Read Full Text] Objective To identify the pathogenic mutation in a five-generation Ningxia family with autosomal […]
Analysis of genotype and phenotype of hereditary retinal diseases which are easily misdiagnosed as amblyopia
Authors: Qi Rui, Zhu Jinyan, Wang Xiaoguang, Zhuang Wenjuan, Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2019.11.008 Published 2019-11-10 Cite as Chin J Exp Ophthalmol, 2019,37(11): 888-895. Abstract [View PDF] [Read Full Text] Objective To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as […]
Analysis of the genotype and phenotye in 3 pedigrees with Stargardt disease
Authors: Rong Weining, Ma Runqing, Fang Xinhe, Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2018.07.013 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 544-548. Abstract [Download PDF] [Read Full Text] Objective To analyze the relationship between genotype and phenotype in 3 pedigrees with Stargardt disease. Methods Three pedigrees with Stargardt disease were […]