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Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia. Most cases are caused by variants in\n                      <jats:italic>NYX<\/jats:italic>\n                      ,\n                      <jats:italic>TRPM1<\/jats:italic>\n                      ,\n                      <jats:italic>GRM6<\/jats:italic>\n                      ,\n                      <jats:italic>GPR179<\/jats:italic>\n                      or\n                      <jats:italic>LRIT3<\/jats:italic>\n                      . This study aimed to identify the genetic defect in a subject with clinically diagnosed cCSNB lacking coding variants in known associated genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A male patient presented with an electroretinogram profile consistent with cCSNB in the absence of high myopia. Pathogenic variants were not detected using Sanger sequencing of the coding regions of all known CSNB\u2010associated genes. Whole genome sequencing (WGS) and bioinformatic analysis using SpliceAI, Pangolin, REVEL, CADD v1.7, BayesDel and MetaRNN were performed to detect potential pathogenic variants. Functional impact of this variant has been analysed using LINSIGHT, ReMM and FunUV. A minigene assay was used to assess the splicing impact of the identified variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WGS identified a novel c.\u201057G&gt;A variant in the 5\u2032 untranslated region, within exon 1 of\n                      <jats:italic>NYX<\/jats:italic>\n                      coding for nyctalopin. In silico predictions suggested this variant to alter splicing, which was confirmed by a minigene assay showing abnormal expression of\n                      <jats:italic>NYX<\/jats:italic>\n                      . The defect was predicted to reduce nyctalopin production, potentially explaining the milder cCSNB phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first report describing a noncoding variant in\n                      <jats:italic>NYX<\/jats:italic>\n                      causing CSNB but lacking high myopia. These results highlight the clinical importance of screening noncoding regions of known IRD genes in genetically unsolved cases. Whether the development of high myopia in cCSNB depends on the type and location of\n                      <jats:italic>NYX<\/jats:italic>\n                      variants remains to be elucidated.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/aos.70094","type":"journal-article","created":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T03:40:12Z","timestamp":1773027612000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification and functional validation of a novel disease\u2010causing variant in the noncoding region of\n                    <i>NYX<\/i>"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0311-0621","authenticated-orcid":false,"given":"Filip","family":"Spanic","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7193-5642","authenticated-orcid":false,"given":"Christelle","family":"Michiels","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Navarro","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Antonio","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6189-0906","authenticated-orcid":false,"given":"Christel","family":"Condroyer","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Andrieu","sequence":"additional","affiliation":[{"name":"Centre Hospitalier National d'Ophtalmologie des Quinze\u2010Vingts Centre de R\u00e9f\u00e9rence Maladies Rares REFERET and INSERM\u2010DGOS CIC 1423  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Billy","family":"Gipsy","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalie du d\u00e9veloppement Service de g\u00e9n\u00e9tique CHUGA \u2010 H\u00f4pital Couple Enfant  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Berth\u00e9my\u2010Pellet","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Grenoble  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9539-3315","authenticated-orcid":false,"given":"Mathilde","family":"Gallice","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Grenoble  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"},{"name":"Centre Hospitalier National d'Ophtalmologie des Quinze\u2010Vingts Centre de R\u00e9f\u00e9rence Maladies Rares REFERET and INSERM\u2010DGOS CIC 1423  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":false,"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,23]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Addgene. 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