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We assessed information regarding ocular structural, functional, and adnexal elements as well as pertinent associated phenotypic features associated with KS. For both type 1 KS (KS1) and type 2 KS (KS2), we observed more severe eye pathology in nonsense variants towards the C\u2010terminus of each gene, <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic>, respectively. Furthermore, frameshift variants appeared to be not associated with structural ocular elements. Between both types of KS, ocular structural elements were more frequently identified in KS1 compared with KS2, which only involved the optic disc in our cohort. These results reinforce the need for a comprehensive ophthalmologic exam upon diagnosis of KS and regular follow\u2010up exams. The specific genotype may allow risk stratification of the severity of the ophthalmologic manifestation. However, additional studies involving larger cohorts are needed to replicate our observations and conduct powered analyses to more formally risk\u2010stratify based on genotype, highlighting the importance of multicenter collaborations in rare disease research.<\/jats:p>","DOI":"10.1002\/ajmg.a.63155","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T08:26:21Z","timestamp":1678350381000},"page":"1325-1338","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Insights into the genotype\u2013phenotype relationship of ocular manifestations in Kabuki syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9839-7530","authenticated-orcid":false,"given":"Suraj S.","family":"Shah","sequence":"first","affiliation":[{"name":"Tufts University School of Medicine  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Fulton","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireille","family":"Jabroun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Ophthalmology and Vision Science University of Arizona  Tucson Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Brightman","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati School of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8643-0161","authenticated-orcid":false,"given":"Brittany N.","family":"Simpson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati School of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7847-552X","authenticated-orcid":false,"given":"Olaf A.","family":"Bodamer","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"},{"name":"The Broad Institute of Harvard and MIT  Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_2_10_3_1","volume-title":"Gene Reviews","author":"Adam M. 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