Authors: Li Miao, Peng Haiying, Tang He, Zhou Zhongqiang, Wei Yuanmeng, Shi Pingling, Liang Yingjuan DOI: 10.3760/cma.j.cn115989-20241008-00281 Published: 2025 -09 -10 Citation Li Miao, Peng Haiying, Tang He, et al. Clinical characteristics and genetic analysis of a novel CACNA1F gene variant associated with cone-rod dystrophy[J]. Chin J Exp Ophthalmol, 2025, 43(9):827-832. DOI10.3760/cma.j.cn115989-20241008-00281. ABSTRACT […]
Tag: Mutation
Clinical features and genetic analysis of horizontal gaze palsy with progressive scoliosis caused by ROBO3 gene variation in two families
Authors: Liu Ting, Wang Fei, Lu Yuebing, Fang Zhongqi, Li Ping, Dong Shijie, Bai Dayong DOI: 10.3760/cma.j.cn115989-20240530-00137 Published: 2025 -07 -10 Citation Liu Ting, Wang Fei, Lu Yuebing, et al. Clinical features and genetic analysis of horizontal gaze palsy with progressive scoliosis caused by ROBO3 gene variation in two families[J]. Chin J Exp Ophthalmol, 2025, 43(7):611-617. DOI: 10.3760/cma.j.cn115989-20240530-00137. […]
Genotypes and phenotypes of hereditary eye diseases associated with early-onset high myopia
Authors: Rui Xue, Ren Yinghua, Yang Shangying, Cheng Wanyu, Rong Weining, Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20211216-00695 Published 2023-07-10 Cite as Chin J Exp Ophthalmol, 2023, 41(7): 662-674. Abstract [Download PDF] [Read Full Text] Objective To analyze the genotype of hereditary eye diseases with […]
Change of serum response factor expression in eyelid of different embryo development stages of B6-Co mice
Authors: Song Hongyan, Li Yao, Lu Zeyan, Wu Liucheng, Shao Yixiang DOI: 10.3760/cma.j.issn.2095-0160.2015.08.004 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 691-694. Abstract [Download PDF] [Read Full Text] Background Mutant C57BL/6 mouse with corneal opacity (B6-Co) appears eye open at birth […]
Application of next-generation sequencing in detection of mutation gene in a Chinese pedigree with congenital cataract
Authors: Xiao Hai, Zhang Hui, Li Tao, Wu Dong, Zhang Chaoyang, Shi Weili, Qin Litao, Liao Shixiu DOI: 10.3760/cma.j.issn.2095-0160.2015.08.008 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 705-709. Abstract [Download PDF] [Read Full Text] Background Due to the genetic heterogeneity of […]
Advances in genetic study of achromatopsia
Authors: Liang Xiaofang, Sui Ruifang, Dong Fangtian DOI: 10.3760/cma.j.issn.2095-0160.2015.08.020 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 764-767. Abstract [Download PDF] [Read Full Text] Achromatopsia is a kind of autosomal recessive cone disorder. It occurs with nystagmus, photophobia, inability of color […]
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, […]
TTR mutations and clinical characteristics of vitreous amyloidosis patients
Authors: Zhang Xiaohui, Xu Ke, Xu Xiaolin, Xie Yue, Li Yang DOI: 10.3760/cma.j.cn115989-20190419-00192 Published 2020-08-10 Cite as Chin J Exp Ophthalmol, 2020,38(08): 670-674. Abstract [View PDF] [Read Full Text] Objective To investigate the transthyretin (TTR) mutations and clinical characteristics of patients with vitreous amyloidosis. Methods Ten […]
Effect of VEGF-A gene mutation on neovascular age-related macular degeneration and the response to ranibizumab
Authors: Song Shuang, Yang Fan, Gu Xiaoya, Zhang Peng, Yu Xiaobing, Dai Hong DOI: 10.3760/cma.j.cn115989-20200509-00320 Published 2020-08-10 Cite as Chin J Exp Ophthalmol, 2020,38(08): 680-685. Abstract [View PDF] [Read Full Text] Objective To investigate the effect of vascular endothelial growth factor-A (VEGF–A) gene mutation to neovascular […]
Clinical and genetic characteristics of patients with KCNV2-associated cone dystrophy
Authors: Zhu Tian, Li Hui, Wang Lei, Wei Xing, Wu Shijing, Sun Zixi, Sui Ruifang DOI: 10.3760/cma.j.cn115985-20200117-00030 Published 2020-04-10 Cite as Chin J Exp Ophthalmol, 2020,38(04): 312-318. Abstract [View PDF] [Read Full Text] Objective To access the genetic defects and clinical characteristics […]