·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 […]
Category: 2022, No. 10
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, […]
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 […]
Application of CRISPR/Cas9 gene editing technology in the construction of animal models of ophthalmic diseases
Authors: Ma Xiaochen, Liu Hongling DOI: 10.3760/cma.j.cn115989-20190930-00425 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 972-975. Abstract [View PDF] [Read Full Text] The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated endonuclease 9 (Cas9) technology is a gene editing technology that uses […]
Progress in the research on clinical features of Bestrophinopathies and mutations in BEST1 gene
Authors: Yang Shangying, Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20200921-00659 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 976-980. Abstract [View PDF] [Read Full Text] Bestrophinopathies are a group of inherited macular dystrophies caused by BEST1 gene mutations including Best vitelliform macular dystrophy, adult-onset […]
Epigenetic regulation and retinal degenerative diseases
Authors: Zhang Hua, Pang Jijing DOI: 10.3760/cma.j.cn115989-20191015-00442 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 981-985. Abstract [View PDF] [Read Full Text] Epigenetics pertains to heritable alterations in gene expression when the nucleotide sequence remains unchanged.Epigenetic regulation […]
Role of microRNA-21 in the occurrence and development of ophthalmic diseases
Authors: Sun Jijun, Ruan Qingguo, Shi Weiyun DOI: 10.3760/cma.j.cn115989-20191007-00428 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 986-991. Abstract [View PDF] [Read Full Text] MicroRNA (miRNA) is a short noncoding RNA, which can regulate gene expression.miR-21 is one of the human miRNAs […]
Research progress on regulation of lncRNA in age-related ophthalmopathy
Authors: Cheng Tianyu, Guan Huaijin DOI: 10.3760/cma.j.cn115989-20190125-00035 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 992-995. Abstract [View PDF] [Read Full Text] Long non-coding RNA (lncRNA) is a class of transcripts longer than 200 nucleotides, which do not […]
Advances in rodent models of retinal neovascularization
Authors: Xu Qianhui, Chen Jun, Shao Yi DOI: 10.3760/cma.j.cn115989-20200211-00064 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 996-998. Abstract [View PDF] [Read Full Text] Retinal neovascularization (RNV) originating from retinal blood vessels is one of the main pathological features of many ocular […]