Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Purpose. To delineate the clinical and genetic characteristics of Chinese patients with RPGRIP1-associated Leber congenital amaurosis 6 (LCA6). Methods. After screening 352 unrelated families with clinically diagnosed RP, five LCA6 patients with RPGRIP1 variations from unrelated Chinese families wer...

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Bibliographic Details
Main Authors: Yumei Mao, Yanling Long, Bo Liu, Qingling Cao, Yijian Li, Sha Li, Gang Wang, Xiaohong Meng, Shiying Li
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2021/9966427
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