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Patients displaying photoreceptor dysfunction show a Riggs\u2010electroretinogram (<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content>) while patients with a signal transmission defect show a Schubert\u2013Bornschein <jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content>. The latter group is subdivided into complete or incomplete (ic) <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>. Only few <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content> cases with Riggs\u2010<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> and only one family with a disease\u2010causing variant in <jats:italic><jats:styled-content style=\"fixed-case\">SLC24A1<\/jats:styled-content><\/jats:italic> have been reported. Whole\u2010exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) in a previously diagnosed <jats:styled-content style=\"fixed-case\">icCSNB<\/jats:styled-content> patient identified a homozygous nonsense variant in <jats:italic><jats:styled-content style=\"fixed-case\">SLC24A1<\/jats:styled-content><\/jats:italic>. Indeed, re\u2010investigation of the clinical data corrected the diagnosis to Riggs\u2010form of <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>. Targeted next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) identified compound heterozygous deletions and a homozygous missense variant in <jats:italic><jats:styled-content style=\"fixed-case\">SLC24A1<\/jats:styled-content><\/jats:italic> in two other patients, respectively. <jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert\u2013Bornschein\u2010type of <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content>. This confirms that <jats:italic><jats:styled-content style=\"fixed-case\">SLC24A1<\/jats:styled-content><\/jats:italic> defects lead to <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content> and outlines phenotype\/genotype correlations in <jats:styled-content style=\"fixed-case\">CSNB<\/jats:styled-content> subtypes. In case of unclear clinical characteristics, <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> techniques are helpful to clarify the diagnosis.<\/jats:p>","DOI":"10.1111\/cge.12746","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T09:28:41Z","timestamp":1454059721000},"page":"690-699","source":"Crossref","is-referenced-by-count":20,"title":["Next\u2010generation sequencing confirms the implication of <i><scp>SLC24A1<\/scp><\/i> in autosomal\u2010recessive congenital stationary night blindness"],"prefix":"10.1111","volume":"89","author":[{"given":"M.","family":"Neuill\u00e9","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9s, UPMC Univ Paris 06 INSERM, CNRS, Institut de la Vision  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Malaichamy","sequence":"additional","affiliation":[{"name":"SN ONGC Department of Genetics and Molecular Biology Vision Research Foundation  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