Burden and characteristics of inherited retinal diseases in China.

ABSTRACT: Hereditary eye diseases, particularly inherited retinal diseases (IRDs), are major causes of visual impairment and blindness. However, IRDs real-world impact in China remains limited. Our study aimed to investigate the socio-demographic characteristics, clinical burden, and perceived quality of life among individuals affected by inherited retinal diseases, with retinitis pigmentosa (RP) as the most common subtype. A cross-sectional national survey was conducted using both online and paper-based questionnaires distributed through hospitals and patient organizations. The questionnaire included sections on demographics, clinical history, genetic testing, symptoms, and the social and economic impact of the disease. A total of 1219 valid responses were collected. RP accounted for 49.08% of diag

SUBMITTER: Lin Y 

PROVIDER: S-EPMC12460825 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature