{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:56:24Z","timestamp":1789167384932,"version":"build-2803163510"},"reference-count":56,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T00:00:00Z","timestamp":1762560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objectives: To identify patient-reported key disease-related challenges of macular and cone\u2013rod dystrophies (MDs\/CRDs) in a large consecutive cohort of individuals with molecularly confirmed diagnoses. Methods: Out of the 281 patients contacted, 194 (69.0%; 55.2% female) responded to an anonymized survey exploring the effects of MD\/CRD on vocational training, professional careers, social participation, family life, personal well-being, and experience with ophthalmologic care. Results: While vocational training was generally less affected, professional careers were frequently disrupted, with 20.6% of patients aged \u2265 50 retiring early. A majority (54.7%) reported feeling restricted in public life. Financial constraints were noted by 20%. A negative impact on familial life (12.3%) was less frequently reported compared to anxiety (74.2%) and depression (15.8%). Diagnostic delays (\u22652 years) were common (34.2%), along with a notable rate of initial misdiagnoses (22.1%). The lack of adequate psychological support was a major complaint in professional care. Conclusions: Compared to a previous study in retinitis pigmentosa, MD\/CRD patients reported differing patterns of burden, especially in early retirement and family impact. Our findings underscore the need for ophthalmic and social care providers to accelerate the diagnostic process and enhance access to financial assistance and psychological support as key areas to improve patient care.<\/jats:p>","DOI":"10.3390\/jcm14227928","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T15:07:31Z","timestamp":1762787251000},"page":"7928","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone\u2013Rod Dystrophies"],"prefix":"10.3390","volume":"14","author":[{"given":"Nina","family":"Zehe-Lindau","sequence":"first","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Lindau","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, Postcode 301212, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-0731","authenticated-orcid":false,"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"},{"name":"Institute of Clinical Human Genetics, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Spital","sequence":"additional","affiliation":[{"name":"Augenzentrum am St. Franziskus-Hospital M\u00fcnster, Hohenzollernring 74, 48145 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-4631","authenticated-orcid":false,"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, Postcode 301212, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/bjophthalmol-2018-313278","article-title":"Progressive cone and cone-rod dystrophies: Clinical features, molecular genetics and prospects for therapy","volume":"103","author":"Gill","year":"2019","journal-title":"Br. 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