{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T05:12:18Z","timestamp":1787461938908,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in 43 patients with KBG syndrome carrying variants in\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    or deletions in 16q24.3 and compared it to the literature. Forty\u2010three patients were recruited via self\u2010referral or a private Facebook group hosted by the KBG Foundation, with 40 of them having pathogenic or likely pathogenic variants. Virtual interviews were conducted to collect a comprehensive medical history verified by medical records. From these records, data analysis was performed to calculate the prevalence of ophthalmological conditions. Out of the 40 participants with pathogenic or likely pathogenic variants, strabismus was reported in 9 (22.5%) participants, while astigmatism, myopia, and hyperopia were reported in 11 (27.5%), 6 (15.0%), and 8 (20.0%) participants, respectively. Other reported conditions include anisometropia, amblyopia, and nystagmus. When compared to the literature, the prevalence of strabismus and refractive errors is higher than other studies. However, more research is needed to determine if variants in\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    play a role in abnormal development of the visual system. In patients with established KBG syndrome, screening for misalignment or refractive errors should be done, as interventions in patients with these conditions can improve functioning and quality of life.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63473","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T15:26:45Z","timestamp":1700062005000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ocular manifestations in a cohort of 43 patients with\n                    <scp>KBG<\/scp>\n                    syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5648-775X","authenticated-orcid":false,"given":"Drake C.","family":"Carter","sequence":"first","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola","family":"Kierzkowska","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Sarino","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5869-0716","authenticated-orcid":false,"given":"Gholson J.","family":"Lyon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"},{"name":"George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"},{"name":"Biology PhD Program, The Graduate Center, The City University of New York  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci9110313"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62675"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15428"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/jmcb\/mjy087"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-50"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328244dfed"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-00920-3"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2127"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.007"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61611"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62632"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2010.06.038"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.04.034"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61524"},{"key":"e_1_2_11_16_1","first-page":"12","article-title":"Understanding, detecting, and managing strabismus","volume":"23","author":"Helveston E. M.","year":"2010","journal-title":"Community Eye Health."},{"key":"e_1_2_11_17_1","first-page":"7","article-title":"The KBG syndrome\u2010a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann J.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"issue":"121","key":"e_1_2_11_18_1","first-page":"1141","article-title":"Refractive error and ethnicity in children","volume":"2003","author":"Kleinstein R. 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