{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T17:00:22Z","timestamp":1786467622386,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1\u2010associated retinal dystrophy (BEST1\u2010RD) population genetically and clinically, and to determine the prevalence of BEST1\u2010RD in Southern and Eastern Norway.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This registry\u2010based study used the Oslo University Hospital Inherited Retinal Disease registry for genetic data and extracted clinical data from medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Sixty patients were included. The prevalence of BEST1\u2010RD in Southern and Eastern Norway was between 1:64\u2009600 and 1:43\u2009700. Forty\u2010one patients were diagnosed with Best's vitelliform macular dystrophy (BVMD), 15 with autosomal recessive bestrophinopathy (ARB) and 4 with autosomal dominant vitreoretinochoroidopathy (ADVIRC). The two most common genotypes were c.403G&gt;A and c.89A&gt;G. These variants were associated with BVMD and a later age of onset compared with other BVMD\u2010associated genotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The prevalence of BEST1\u2010RD in Southern and Eastern Norway was between 1:64\u2009600 and 1:43\u2009700. BVMD patients carrying c.403G&gt;A or c.89A&gt;G had a later age of onset than BVMD patients carrying other variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/aos.70065","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T17:15:27Z","timestamp":1770052527000},"page":"682-690","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic characterization of\n                    <scp>BEST1<\/scp>\n                    \u2010associated retinal dystrophies in the Norwegian population"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7989-1556","authenticated-orcid":false,"given":"Erlend","family":"S\u00e6ther","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences The Arctic University of Norway  Troms\u00f8 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