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Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous patients as potential investigative molecular therapy candidates. The study sample comprised patients with IRD in Iceland ascertained through national centralized genetic and ophthalmological services at Landspitali, a national social support institute, and the Icelandic patient association. Information on patients' disease, syndrome, and genetic testing was collected in a clinical registry. Variants were reevaluated according to ACMG\/AMP guidelines. Overall, 140 IRD patients were identified (point prevalence of 1\/2.600), of which 70 patients had a genetic evaluation where two\u2010thirds had an identified genetic cause. Thirteen disease genes were found in patients with retinitis pigmentosa, with the <jats:italic>RLBP1<\/jats:italic> gene most common (<jats:italic>n<\/jats:italic>\u00a0=\u00a04). The c.1073\u2009+\u20095G\u2009&gt;\u2009A variant in the <jats:italic>PRPF31<\/jats:italic> gene was homozygous in two RP patients. All tested patients with X\u2010linked retinoschisis (XLRS) had the same possibly unique <jats:italic>RS1<\/jats:italic> pathogenic variant, c.441G\u2009&gt;\u2009A (p.Trp147X). Pathologic variants and genes for IRDs in Iceland did not resemble those described in ancestral North\u2010Western European nations. Four variants were reclassified as likely pathogenic. One novel pathogenic variant defined a genetically homogenous XLRS patient group.<\/jats:p>","DOI":"10.1111\/cge.13967","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T20:53:42Z","timestamp":1618433622000},"page":"156-167","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Molecular genetics of inherited retinal degenerations in Icelandic patients"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4453-9150","authenticated-orcid":false,"given":"Daniel A.","family":"Thorsteinsson","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4451-3126","authenticated-orcid":false,"given":"Vigdis","family":"Stefansdottir","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali \u2010 National University Hospital of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9748-5854","authenticated-orcid":false,"given":"Thor","family":"Eysteinsson","sequence":"additional","affiliation":[{"name":"Department of Physiology BioMedical Center, Faculty of Medicine, University of Iceland  Reykjavik Iceland"},{"name":"Department of Ophthalmology Landspitali \u2010 National University Hospital of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigridur","family":"Thorisdottir","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Landspitali \u2010 National University Hospital of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5084-8374","authenticated-orcid":false,"given":"Jon J.","family":"Jonsson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine Landspitali \u2010 National University Hospital of Iceland  Reykjavik Iceland"},{"name":"Department of Biochemistry and Molecular Biology BioMedical Center, Faculty of Medicine, University of Iceland  Reykjavik Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/tvst.7.4.6"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20225722"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2010.02363.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aax2324"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.15"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2017.03.003"},{"key":"e_1_2_10_8_1","unstructured":"Retinal Information Networkhttps:\/\/sph.uth.edu\/retnet\/home.htm 2020."},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000501374"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8202715"},{"key":"e_1_2_10_11_1","volume-title":"Genetics and Genomics of Eye Disease","author":"Gao XR","year":"2019"},{"key":"e_1_2_10_12_1","unstructured":"Statistics Iceland. 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