A national cross-sectional study of patients with inherited retinal disease in China

Abstract To address the lack of comprehensive data on the health and living status of Chinese patients with inherited retinal diseases (IRDs). A questionnaire survey was conducted among 2218 IRD patients or their proxies, with data analyzed across six key dimensions: general features, family status, symptoms, diagnosis and treatment, rehabilitation, and life impact. The patients had a male-to-female ratio of ~ 6:4, mean age of 28.51 ± 17.14 years, 32.42% with disability certificates, and 27.68% of adults unemployed. Most (77.68%) had a per capita annual household income ≤ RMB 100,000. The mean age of onset was 13.11 years, with 50.09% reporting disease progression turning points (e.g., COVID-19, overwork). The average time from onset to diagnosis was 5.87 years, 42.47% experienced misdiagnosis, 33.81% received treatment (70.27% dissatisfied with effects), and economic capacity for treatment was limited but improved with long-term installments. Patients showed high willingness for rehabilitation but low acceptance of cross-city training; 45.27% used assistive devices, and 74.39% could travel independently, though IRDs severely impacted daily life. Chinese IRD patients face poor health and living conditions, including delayed diagnosis, high misdiagnosis, low treatment satisfaction, and economic constraints. Comprehensive social security policies are urgently needed to meet their multi-dimensional needs.