Tag: Leber congenital amaurosis

Novel SPATA7 mutations caused Leber congenital amaurosis: a case report

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 Du Wanli […]

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 […]