Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Xing WeiHui LiShijing WuTian ZhuRuifang Sui

Published in: Documenta ophthalmologica. Advances in ophthalmology (2022)

We reported the first two Chinese Oguchi patients with novel GRK1 pathogenic variants (P471Lfs*52, R316S, L463P) and one Oguchi case with SAG, indicating both GRK1 and SAG are important causative genes in Chinese Oguchi patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
genome wide
copy number