{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T14:08:08Z","timestamp":1789135688582,"version":"build-2803163510"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["FRF-BRA-25-013"],"award-info":[{"award-number":["FRF-BRA-25-013"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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 ~\u20096:4, mean age of 28.51\u2009\u00b1\u200917.14 years, 32.42% with disability certificates, and 27.68% of adults unemployed. Most (77.68%) had a per capita annual household income\u2009\u2264\u2009RMB 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.<\/jats:p>","DOI":"10.1038\/s41598-026-70895-7","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T12:25:01Z","timestamp":1788956701000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A national cross-sectional study of patients with inherited retinal disease in China"],"prefix":"10.1038","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0704-882X","authenticated-orcid":false,"given":"Yudi","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengyao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoyan","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panwang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhisheng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"70895_CR1","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/ceo.13917","volume":"49","author":"M Georgiou","year":"2021","unstructured":"Georgiou, M., Fujinami, K. & Michaelides, M. 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The Ethics Committee determined that this investigation did not require written informed consent from the respondents. Nonetheless, we complied with the principles stipulated in the Declaration of Helsinki by fully informing respondents of the purpose, significance, and risks of the present study in the introduction to the questionnaire; furthermore, we respected the rights of the survey respondents not to participate in the survey or to withdraw from this research at any time. This study protected the privacy of the survey respondents. 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