Authors: Du Wanli, Wu Caiyun, Ma Xiaoying, Hao Shengju, Hui Ling, Fan Yujie, Zhang Qinghua DOI: 10.3760/cma.j.cn115989-20220803-00360 Published: 2025 -10 -10 Citation Du Wanli, Wu Caiyun, Ma Xiaoying, et al. Novel SPATA7 mutations caused Leber congenital amaurosis: a case report[J]. Chin J Exp Ophthalmol, 2025, 43(10):921-923. DOI: 10.3760/cma.j.cn115989-20220803-00360. [Download PDF] [View Full Text] Authors Info & Affiliations […]
Tag: Leber congenital amaurosis
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 […]
Degeneration of short-wavelength cone cells in rd12 mice
Authors: Li Xia, Zhang Hua, Dai Xufeng, Pang Jijing DOI: 10.3760/cma.j.issn.2095-0160.2017.11.003 Published 2017-11-10 Cite as Chin J Exp Ophthalmol, 2017,35(11): 970-975. Abstract [Download PDF] [Read Full Text] Background Retinitis pigmentosa (RP) is one of the causes of congenital blindness.It is well known that the degeneration process of rod cells […]
Compound heterozygous mutations of CRB1 gene in a Chinese family with Leber congenital amaurosis by whole exome sequencing
Authors: Cao Yingjie, Xiao Xiaoqiang, Chen Shaowan, Zheng Yuqian, Chen Haoyu DOI: 10.3760/cma.j.issn.2095-0160.2018.07.008 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 526-530. Abstract [Download PDF] [Read Full Text] Objective To investigate the disease-causing mutation in a family with Leber congenital amaurosis (LCA). Methods A Chinese […]