{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:51:09Z","timestamp":1788306669835,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T00:00:00Z","timestamp":1653696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein\u2010coding region of the <jats:italic>TRPM1<\/jats:italic> gene are one of the commonest causes of CSNB. Here, we report the clinical and genetic findings in 10 unrelated individuals with <jats:italic>TRPM1<\/jats:italic>\u2010retinopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Study subjects were recruited through a tertiary clinical ophthalmic genetic service at Manchester, UK. All participants underwent visual electrodiagnostic testing and panel\u2010based genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Study subjects had a median age of 8\u2009years (range: 3\u201320\u2009years). All probands were myopic and had electroretinographic findings in keeping with complete CSNB. Notably, three probands reported no night vision problems. Fourteen different disease\u2010associated <jats:italic>TRPM1<\/jats:italic> variants were detected. One individual was homozygous for the NM_001252024.2 (<jats:italic>TRPM1<\/jats:italic>):c.965\u2009+\u200929G&gt;A variant and a mini\u2010gene assay highlighted that this change results in mis\u2010splicing and premature protein termination. Additionally, two unrelated probands who had CSNB and mild neurodevelopmental abnormalities were found to carry a 15q13.3 microdeletion. This copy number variant encompasses seven genes, including <jats:italic>TRPM1<\/jats:italic>, and was encountered in the heterozygous state and <jats:italic>in trans<\/jats:italic> with a missense <jats:italic>TRPM1<\/jats:italic> variant in each case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings highlight the importance of comprehensive genomic analysis, beyond the exons and protein\u2010coding regions of genes, for individuals with CSNB. When this characteristic retinal phenotype is accompanied by extraocular findings (including learning and\/or behavioural difficulties), a 15q13.3 microdeletion should be suspected. Focused analysis (<jats:italic>e.g.<\/jats:italic> microarray testing) is recommended to look for large\u2010scale deletions encompassing <jats:italic>TRPM1<\/jats:italic> in patients with CSNB and neurodevelopmental abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.15186","type":"journal-article","created":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T08:19:05Z","timestamp":1653725945000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genetic findings in <scp><i>TRPM1<\/i><\/scp>\u2010related congenital stationary night blindness"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0148-5674","authenticated-orcid":false,"given":"Christos","family":"Iosifidis","sequence":"first","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health University of Manchester  Manchester UK"},{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"},{"name":"Manchester Royal Eye Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingshu","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Gale","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie M.","family":"Ellingford","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health University of Manchester  Manchester UK"},{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Campbell","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Ingram","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Chandler","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil R. 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