{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:42:16Z","timestamp":1777945336986,"version":"3.51.4"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T00:00:00Z","timestamp":1750032000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    In this report, we describe the clinical features and spectrum of gene variants of an Indian cohort with Stargardt disease (STGD). We reviewed the medical records of 98 eyes of 49 patients with STGD who underwent colour fundus photography, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), full\u2010field electroretinography (FFERG) and genetic testing using an NGS panel. Demographic data, clinical features, FAF, OCT, FFERG characteristics, and genotype analysis were the main outcome measures. The median age at onset and presentation was when the patients were 14\u2009years (Range: 5\u201349\u2009years) and 22\u2009years (Range: 6\u201355\u2009years) old, respectively. Median BCVA was 0.7 logMAR (Range: 0\u20131.8 logMAR). Lower BCVA was associated with the presence of flecks outside the arcade, significantly lower central foveal thickness (CFT), reduced scotopic and photopic FFERG response (Type III) and multiple areas of low FAF signal at the posterior pole with a heterogeneous background (Type III). Longer disease duration was associated with Type III FAF signal and Type III ERG response.\n                    <jats:italic>ABCA4<\/jats:italic>\n                    gene mutation was seen in 44 (&gt;\u200980%) patients; 1 each had\n                    <jats:italic>PROM1, CNGB3<\/jats:italic>\n                    , and\n                    <jats:italic>PDE6A\/TULP1<\/jats:italic>\n                    variants, and 2 had no known variants. Later onset of the disease was noted in patients with 2 recurrent variants (c.5882G&gt;A and c.859\u20109T&gt;C) detected in 8 patients each. Most patients reported at a younger age compared to other populations. FAF categories, CFT, and FFERG patterns correlated with disease duration and BCVA.\n                  <\/jats:p>","DOI":"10.1111\/cge.14778","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T04:55:25Z","timestamp":1750049725000},"page":"664-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4250-0014","authenticated-orcid":false,"given":"Mythri K.","family":"Rao","sequence":"first","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Service Medical Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramya R.","family":"Nadig","sequence":"additional","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Service Medical Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Syed Ali Fathima Afrin","sequence":"additional","affiliation":[{"name":"SNONGC Department of Genetics and Molecular Biology Vision Research Foundation  Chennai India"},{"name":"School of Chemical and Biotechnology SASTRA Deemed University  Thanjavur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarangapani","family":"Sripriya","sequence":"additional","affiliation":[{"name":"SNONGC Department of Genetics and Molecular Biology Vision Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Porkodi","family":"Periasamy","sequence":"additional","affiliation":[{"name":"SNONGC Department of Genetics and Molecular Biology Vision Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramavath Sree","family":"Keerti","sequence":"additional","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Service Medical Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9251-170X","authenticated-orcid":false,"given":"Muna","family":"Bhende","sequence":"additional","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Service Medical Research Foundation  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Sankara Nethralaya Vitreoretinalstudy Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,16]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"3331","article-title":"Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene","volume":"42","author":"Bernstein P. 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