Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.

چکیده

Inherited retinal diseases (IRDs) are a clinically and molecularly heterogeneous group of monogenic disorders that cause vision loss across all age groups. This study set out to define the mutational landscape of IRDs among patients evaluated at a tertiary center in Northwest China. Next-generation…

متن کامل چکیده در سایت ناشر در دسترس است.

موضوعات مرتبط

• شبکیه
• هوش مصنوعی در چشم پزشکی