ArticleScientific reports2025
Burden and characteristics of inherited retinal diseases in China.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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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 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.
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