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ABCA4\u2013retinal dystrophies are clinically heterogeneous, presenting with mild to severe degeneration of the retina. The purpose of this study was to clinically and genetically characterize patients with ABCA4\u2010retinal dystrophies in Norway and describe phenotype\u2013genotype associations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>ABCA4<\/jats:italic> variants were detected in 111 patients with inherited retinal disease undergoing diagnostic genetic testing over a period of 12\u00a0years. In patients where only a single <jats:italic>ABCA4<\/jats:italic> variant was found, whole\u2010gene <jats:italic>ABCA4<\/jats:italic> sequencing was performed and intronic variants were investigated by mRNA analyses in fibroblasts. Medical journals were used to obtain a clinical description and ultrawidefield autofluorescence images were used to analyse retinal degeneration patterns.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genetic diagnostic yield was 89%. The intronic splice variant c.5461\u201010T&gt;C was the most prevalent disease\u2010causing variant (27%). Whole\u2010gene <jats:italic>ABCA4<\/jats:italic> sequencing detected two novel intronic variants (c.6729+81G&gt;T and c.6817\u2010679C&gt;A) that we showed affected mRNA splicing. Peripheral retinal degeneration was identified in 33% of patients and was associated with genotypes that included severe loss of function variants. By contrast, peripheral degeneration was <jats:italic>not<\/jats:italic> found in patients with a disease duration over 20\u00a0years and genotypes including p.(Asn1868lle), c.4253+43G&gt;A or p.(Gly1961Glu) in <jats:italic>trans<\/jats:italic> with a loss of function variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study demonstrates the clinical and genetic heterogeneity of ABCA4\u2010retinal dystrophies in Norway. Further, the study presents novel variants and increases our knowledge on phenotype\u2013genotype associations and the presence of peripheral retinal degeneration in ABCA4\u2010retinal dystrophy patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14679","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T04:45:18Z","timestamp":1606797918000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical features and molecular genetics of patients with ABCA4\u2010retinal dystrophies"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7731-0750","authenticated-orcid":false,"given":"Josephine Prener","family":"Holtan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Oslo University Hospital Oslo Norway"},{"name":"Institute of Clinical Medicine University of Oslo Oslo 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