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: Gene mutation
Gene mutations, chromosome aberrations and prognosis of uveal melanoma
Authors: Zhang Mingxue, Zhang Hong DOI: 10.3760/cma.j.issn.2095-0160.2015.11.019 Published 2015-11-10 Cite as Chin J Exp Ophthalmol, 2015,33(11): 1052-1056. Abstract [Download PDF] [Read Full Text] Incidence of Uveal melanoma (UM), is only secondary to cutaneous melanoma and is common primary intraocular malignant tumor of in […]
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 […]
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 […]
A novel mutation of LRP5 gene in familial exudative vitreoretinopathy
Authors: Qin Yazhou, Fan Xiaojuan, Liu Jing, Li Jingming DOI: 10.3760/cma.j.cn115989-20200218-00075 Published 2021-03-10 Cite as Chin J Exp Ophthalmol, 2021, 39(3): 216-220. Abstract [View PDF] [Read Full Text] Objective To investigate the clinical and genetic mutation characteristics […]
A novel mutation of CNGB3 gene in a Chinese achromatopsia family
Authors: Zhou Zhongqiang, Peng Haiying, Shi Pingling, Tang He, Wei Yuanmeng, Li Miao, Lei Bo, Huang Aiguo DOI: 10.3760/cma.j.cn115989-20191217-00549 Published 2021-03-10 Cite as Chin J Exp Ophthalmol, 2021, 39(3): 221-227. Abstract [View PDF] [Read Full Text] […]
Unraveling the genetic cause of juvenile neuronal ceroid-lipofuscinosis
Authors: Shen Renjuan, Zhou Rong, Feng Zhuokun, Wang Xiaofang, Chen Chong, Chen Zhenji, Jin Zibing DOI: 10.3760/cma.j.issn.2095-0160.2020.01.009 Published 2020-01-10 Cite as Chin J Exp Ophthalmol, 2020,38(01): 45-49. Abstract [View PDF] [Read Full Text] Objective To analyze the clinical symptoms and hereditary information of suspicious juvenile neuronal […]
Clinical manifestation and gene mutation of Bietti crystalline corneoretinal dystrophy
Authors:Guo Tong, Jia Ruixuan, Chen Ningning, Yang Liping DOI: 10.3760/cma.j.issn.2095-0160.2019.09.009 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 730-735. Abstract [View PDF] [Read Full Text] Objective To analyze the clinical manifestation and CYP4V2 mutations of Bietti crystalline corneoretinal dystrophy( BCD) families. Methods Total […]
Mutation screen of P4HA2 gene in Tujia high myopia patients
Authors:Yang Lin, Li Tuo, Cai Xiaojun, Ke Min, Chen Zhongshan DOI: 10.3760/cma.j.issn.2095-0160.2019.09.010 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 736-739. Abstract [View PDF] [Read Full Text] Objective To investigate the mutation of P4HA2 gene in Tujia high myopia patients. Methods Clinical data […]
Mutation analysis of Pax6 in Chinese patients with congenital aniridia
Authors：Hao Peng, Ying Ming, Han Ruifang, Wang Liming, Li Ningdong DOI: 10.3760/cma.j.issn.2095-0160.2016.10.007 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 900-904. Abstract [Download PDF] [Read Full Text] Background Congenital aniridia is a rare congenital autosomal dominant disease, which is shown as aniridia of double eyes, […]