Article
Congenital Stationary Night Blindness: Clinical and Genetic Features.
International journal of molecular sciences - 29 Nov 2022
Kim Angela H, Liu Pei-Kang, Chang Yin-Hsi, Kang Eugene Yu-Chuan, Wang Hung-Hsuan, Chen Nelson, Tseng Yun-Ju, Seo Go Hun, Lee Hane, Liu Laura, Chao An-Ning, Chen Kuan-Jen, Hwang Yih-Shiou, Wu Wei-Chi, Lai Chi-Chun, Tsang Stephen H, Hsiao Meng-Chang, Wang Nan-Kai
Abstract excerpt
Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. The development of sequencing technologies and gene therapy have increased the ease and urgency of diagnosing IRDs. This study describes seven Taiwanese patients from six unrelated families examined at a tertiary...
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