{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T12:13:24Z","timestamp":1785413604783,"version":"3.56.0"},"reference-count":37,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science Grant-in-Aid for Scientific Research","doi-asserted-by":"publisher","award":["23K09053"],"award-info":[{"award-number":["23K09053"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"award":["23K09053"],"award-info":[{"award-number":["23K09053"]}],"id":[{"id":"https:\/\/ror.org\/00hhkn466","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Ministry of Health, Labour and Welfare, Japan","award":["JPMH23FC1043"],"award-info":[{"award-number":["JPMH23FC1043"]}]},{"award":["JPMH23FC1043"],"award-info":[{"award-number":["JPMH23FC1043"]}],"id":[{"id":"https:\/\/ror.org\/03mwa7s65","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>To compare the genetic causes, prevalence, and clinical characteristics of syndromic and non-syndromic familial exudative vitreoretinopathy (FEVR). A total of 281 patients with FEVR who underwent clinical and genetic evaluation at five ophthalmological institutions in Japan between 2010 and 2023 were included. Whole-exome sequencing, Sanger sequencing, or karyotype analysis was performed using blood samples from probands and available family members. Clinical characteristics of FEVR probands were assessed according to the presence or absence of systemic abnormalities. Among the 281 FEVR probands, 42 (15%) had syndromic FEVR and 239 (85%) had non-syndromic FEVR. Syndromic FEVR was more frequently diagnosed during infancy (95% vs. 57%, p &lt; 0.0001) and occurred more often in sporadic cases (69% vs. 50%, p = 0.028). Variants in Norrin\/\u03b2-catenin signaling genes were less common in syndromic FEVR (29% vs. 54%, p = 0.0026), whereas symmetrical retinal severity was more frequently observed (67% vs. 39%, p = 0.001). Sex distribution did not differ between groups. Pathogenic variants were identified in 71% of syndromic cases, most commonly in KIF11, NDP, CTNNB1, DOCK6, TSPAN12, and LRP5. Syndromic FEVR exhibits distinct and heterogeneous genetic and clinical features compared with non-syndromic FEVR. Genotype\u2013phenotype characterization may enable earlier diagnosis.<\/jats:p>","DOI":"10.3390\/ijms27083348","type":"journal-article","created":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T15:26:39Z","timestamp":1775661999000},"page":"3348","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy"],"prefix":"10.3390","volume":"27","author":[{"given":"Sho","family":"Naruse","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Tsukahara-Kawamura","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka 814-0180, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itsuka","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuo","family":"Nagata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Nishina","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, National Center for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6457-2368","authenticated-orcid":false,"given":"Takao","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Osaka Women\u2019s and Children\u2019s Hospital, Izumi 594-1101, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8364-0948","authenticated-orcid":false,"given":"Shunji","family":"Kusaka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kindai University Faculty of Medicine, Sakai 590-0197, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3194-152X","authenticated-orcid":false,"given":"Hiroyuki","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Occupational and Environmental Health, Japan, Kitakyushu 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/0002-9394(69)91237-9","article-title":"Familial exudative vitreoretinopathy","volume":"68","author":"Criswick","year":"1969","journal-title":"Am. 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