Tag: Choroideremia

Diagnosis of choroideremia in two Chinese families misdiagnosed as retinitis pigmentosa using next-generation sequencing

2019, No. 09, Clinical Science

Authors:Wang Miaomiao,  Wang Zhuoshi,  Sun Yan,  Xia Yang,  He Wei DOI: 10.3760/cma.j.issn.2095-0160.2019.09.006 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 719-724. Abstract                               [View PDF] [Read Full Text] Objective To identify choroideremia and retinitis pigmentosa(RP)using next-generation sequencing(NGS)technology. Methods A cross-sectional study was adopted.The participants were two […]

Study of natural history of Chinese patients with choroideremia

2018, No. 07, Clinical Science

Authors:  Han Xiaoxu,  Li Hui,  Wu Shijing,  Sun Zixi,  Zhou Qi,  Sui Ruifang DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 519-525. Abstract                              [Download PDF] [Read Full Text] Objective To provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia (CHM) […]