{"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":1788453517402,"version":"build-2803163510"},"reference-count":24,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Terttu foundation","award":["T36101"],"award-info":[{"award-number":["T36101"]}]},{"DOI":"10.13039\/501100003125","name":"Finnish Cultural Foundation","doi-asserted-by":"crossref","award":["00230767, Ingrid, Toini and Olavi Martelius fund"],"award-info":[{"award-number":["00230767, Ingrid, Toini and Olavi Martelius fund"]}],"id":[{"id":"10.13039\/501100003125","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100008723","name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","award":["4967 and 6880"],"award-info":[{"award-number":["4967 and 6880"]}],"id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Competitive State Research Financing of the Expert Responsibility area of Oulu University Hospital","award":["K36733 and K71772"],"award-info":[{"award-number":["K36733 and K71772"]}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","award":["338446"],"award-info":[{"award-number":["338446"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2025,6,5]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>This study aims to assess clinical and genetic characteristics as well as the prevalence of inherited retinal dystrophies (IRD) and their subphenotypes in the Finnish founder population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective analysis of clinical and genetic data from Northern Finnish patients diagnosed with IRD between 1996 and 2023 at Oulu University Hospital, Finland, was conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The cohort comprised 582 patients with IRD, categorised into 16 different subphenotypes. Pathogenic or likely pathogenic variants explaining IRD were identified in 36% (n=210\/582) of all patients and 80% (n=210\/261) of genetically tested patients with IRD. Diagnostic yields varied between different IRD subphenotypes. The genetic aetiology was most commonly confirmed in X-linked retinoschisis, severe early childhood-onset retinal dystrophy, congenital stationary night blindness and choroideremia. The lowest rates of causative variant identification were observed in cone or cone-rod dystrophy and macular dystrophy. In total, 70 pathogenic or likely pathogenic variants were identified across 39 different genes; variants in the\n                      <jats:italic>FZD4<\/jats:italic>\n                      and\n                      <jats:italic>RPGR<\/jats:italic>\n                      genes were the most prevalent. Over half of the variants were enriched in the Finnish population. The estimated total prevalence of IRDs in Northern Finland was 69.8\/100 000 (1:1432). The prevalence of the most common subphenotypes was as follows: retinitis pigmentosa, 25.3\/100 000; X-linked retinoschisis, 10.7\/100 000; Usher syndrome, 8.9\/100 000; choroideremia, 7\/100 000 and cone or cone-rod dystrophy, 6\/100 000.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The Northern Finnish population exhibits an enrichment of population-specific IRD-associated variants, resulting in a high overall prevalence of IRDs and an increased prevalence of selected retinal subphenotypes, such as retinoschisis, choroideremia and Usher syndrome types 3 and 1.<\/jats:p>\n                  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