{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T11:22:35Z","timestamp":1783164155075,"version":"3.54.6"},"reference-count":77,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T00:00:00Z","timestamp":1750636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous non\u2010progressive retinal disorders and can be classified based on fundus abnormalities as found in Oguchi disease or fundus albipunctatus (FA) or based on the absence of severe fundus abnormalities but altered electroretinography (ERG) findings. Here, we report the clinical and genetic findings of 46 CSNB families, with 18 families showing fundus abnormalities and 28 families without fundus abnormalities but having an altered ERG, showing complete CSNB (cCSNB) and Riggs type CSNB.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology<\/jats:title><jats:p>Ophthalmic examinations including full\u2010field ERG recordings, colour vision test, optical coherence tomography and fundus autofluorescence were performed and candidate genes for CSNB were screened by panel\u2010based next\u2010generation sequencing using an Illumina MiSeq platform. Subsequently, Sanger sequencing was performed to validate the identified variants and to confirm segregation with the phenotype in available family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 69% (11\/16) of the Oguchi patients', pathogenic variants were found in <jats:italic>SAG<\/jats:italic> and <jats:italic>GRK1<\/jats:italic>, with p.(R292*) and p.(D537Vfs*7) variants being the most frequent mutations identified in this cohort in the two genes, respectively. A likely pathogenic variant p.(G238A) in <jats:italic>RDH5<\/jats:italic> was identified in one of the two FA patients. In 92% of the CSNB (26\/28) families without fundus abnormalities, pathogenic variants were found in <jats:italic>NYX<\/jats:italic>, leading to X\u2010linked cCSNB; in <jats:italic>GRM6<\/jats:italic>, <jats:italic>TRPM1<\/jats:italic>, <jats:italic>GPR179<\/jats:italic>, <jats:italic>LRIT3<\/jats:italic>, leading to autosomal recessive cCSNB and in <jats:italic>GNAT1<\/jats:italic>, leading to autosomal recessive Riggs type CSNB<jats:italic>.<\/jats:italic> No significant copy number variants were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Combing this study with our previous report on CSNB from India, the most prevalent gene defects were variants in <jats:italic>TRPM1<\/jats:italic> (37%) followed by <jats:italic>GRM6<\/jats:italic> (32%) &gt; <jats:italic>NYX<\/jats:italic> (10%) &gt; <jats:italic>SLC24A1<\/jats:italic> (5%) &gt; <jats:italic>GPR179<\/jats:italic> (5%), <jats:italic>GNAT1<\/jats:italic> (3%) and <jats:italic>LRIT3<\/jats:italic> (3%). In the current study, which included Oguchi disease and FA families as well, variants in <jats:italic>SAG<\/jats:italic> (38%) and <jats:italic>GRK1<\/jats:italic> (31%) were identified in the Oguchi disease cases, and in the <jats:italic>RDH5<\/jats:italic> gene in one of the two (50%) FA cases. Unsolved 8\/56 (14%) (combined cohorts) cases may harbour variants in novel genes or intronic variants or structural variants undetectable by the screening method used herein.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.17531","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T00:14:07Z","timestamp":1750724047000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2904-6048","authenticated-orcid":false,"given":"Srilekha","family":"Sundaramurthy","sequence":"first","affiliation":[{"name":"SN ONGC Department of Genetics &amp; Molecular Biology Medical Research Foundation  Chennai 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