{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T16:38:37Z","timestamp":1788453517789,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T00:00:00Z","timestamp":1629849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014\u20102018) and point prevalence (2018) were assessed on the basis of this registry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67\u20101.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000\u20101:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p\u2009=\u20090.027, Fisher\u2019s exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19\u2009years, while the sex ratio in other age\u2010at\u2010onset categories approximated one. Late\u2010onset STGD1 (\u226545\u2009years) constituted 33% of the diagnoses in 2014\u20102018 compared to 19% in 2004\u20102008. Diagnostic delay (\u22652\u2009years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p\u2009=\u20090.001, Mann\u2013Whitney). Misdiagnosis for age\u2010related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late\u2010onset STGD1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The observed prevalence of STGD1 in real\u2010world data was lower than expected on the basis of population <jats:italic>ABCA4<\/jats:italic> allele frequencies. Late\u2010onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis\u2010 and underdiagnosis of especially late\u2010onset STGD1 and the role of sex in STGD1 should receive special attention.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14996","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T12:09:27Z","timestamp":1629893367000},"page":"395-402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2343-4699","authenticated-orcid":false,"given":"Esmee H.","family":"Runhart","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Radboud University Medical Centre  Nijmegen the Netherlands"},{"name":"Donders Institute for Brain Cognition and Behaviour Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1096-1668","authenticated-orcid":false,"given":"Patty","family":"Dhooge","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Radboud University Medical Centre  Nijmegen the Netherlands"},{"name":"Donders Institute for Brain Cognition and Behaviour Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magda","family":"Meester\u2010Smoor","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Erasmus University Medical Centre  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Pas","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Willem R.","family":"Pott","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Medical Centre Groningen University of Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Redmer","family":"van Leeuwen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Medical Centre Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur A.","family":"Bergen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Centre  Amsterdam the Netherlands"},{"name":"The Netherlands Institute for Neuroscience (NIN\u2010KNAW)  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"de Jong\u2010Hesse","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Amsterdam University Medical Centres  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberta A.","family":"Thiadens","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Erasmus University Medical Centre  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary J.","family":"van Schooneveld","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Amsterdam University Medical Centres  Amsterdam the Netherlands"},{"name":"Bartim\u00e9us Diagnostic Centre for Complex Visual Disorders  Zeist the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"van Genderen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Medical Centre Utrecht  Utrecht the Netherlands"},{"name":"Bartim\u00e9us Diagnostic Centre for Complex Visual Disorders  Zeist the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camiel","family":"Boon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Amsterdam University Medical Centres  Amsterdam the Netherlands"},{"name":"Department of Ophthalmology Leiden University Medical Centre  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Klaver","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Radboud University Medical Centre  Nijmegen the Netherlands"},{"name":"Department of Ophthalmology Erasmus University Medical Centre  Rotterdam the Netherlands"},{"name":"Department of Epidemiology Erasmus University Medical Centre  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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