Burden and characteristics of inherited retinal diseases in China

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 diagnoses. Nearly half of the patients (48.81%) reported onset before school age. Night blindness (59.15%) and visual field constriction (58.08%) were the most common symptoms. Cataracts were present in 18.21% of respondents. Psychosocial burden scores across seven domains (e.g., daily life, work, family) exceeded a mean of 6/10, indicating moderate-to-high stress levels. Additionally, 57.51% of households reported annual income below 100,000 RMB (~$14,000 USD), highlighting financial barriers to IRDs patient care and treatment. This survey reveals a substantial burden associated with hereditary eye diseases in China, impacting patients' functional ability, mental well-being, and socioeconomic status. Our findings underscore the urgent need for public awareness, policy support, and affordable therapeutic options to address the needs of this underserved population.