{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:06:23Z","timestamp":1789538783215,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":257,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Case Reports in Ophthalmological Medicine"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Kabuki syndrome (KS) is a rare genetic disorder with a wide phenotypic spectrum and several genotypic variants. KS can result from mutations on Chromosome 12 (KMT2D gene) and Chromosome X (KDM6A gene). The KDM6A gene mutation is seen in approximately 2%\u20136% of Kabuki syndrome cases. In this case report, we present a patient with KS who had a rare and potentially pathogenic heterozygous c.3457dup (p.His153ProfsTer2) in the KDM6A gene from an ophthalmological perspective. Examination revealed distinctive facial features and some common and rare ophthalmological findings. A small number of cases have reported high myopic refractive error and optic disc hypoplasia, as in this case.<\/jats:p>","DOI":"10.1155\/crop\/1626256","type":"journal-article","created":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T05:52:42Z","timestamp":1789537962000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7386-370X","authenticated-orcid":false,"given":"T\u00fclin","family":"\u00d6\u011freden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5566-7025","authenticated-orcid":false,"given":"G\u00fcl\u00e7i\u00e7ek","family":"Cayhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(81)80256-9"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040468"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_8_5_2","unstructured":"Ministry of Health Turkish Republic of Northern Cyprus \u201cRare Diseases List \u201dhttps:\/\/saglik.gov.ct.tr\/Portals\/9\/Nadir%2520Hastalklar%2520Listesi.pdf."},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.123710"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1402531"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22229"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01119-8"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2015.58.9.317"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-023-06345-1"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-228010"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62020"}],"container-title":["Case Reports in Ophthalmological Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crop\/1626256","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crop\/1626256","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crop\/1626256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T05:52:44Z","timestamp":1789537964000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crop\/1626256"}},"subtitle":[],"editor":[{"given":"Semonti","family":"Nandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crop\/1626256"],"URL":"https:\/\/doi.org\/10.1155\/crop\/1626256","archive":["Portico"],"relation":{},"ISSN":["2090-6722","2090-6730"],"issn-type":[{"value":"2090-6722","type":"print"},{"value":"2090-6730","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-01-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1626256"}}