{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T15:42:31Z","timestamp":1776094951587,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"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":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>NAA10<\/jats:italic>\n                    \u2010related (Ogden syndrome) and\n                    <jats:italic>NAA15<\/jats:italic>\n                    \u2010related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of\n                    <jats:italic>NAA10<\/jats:italic>\n                    and\n                    <jats:italic>NAA15<\/jats:italic>\n                    variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in the\n                    <jats:italic>NAA10<\/jats:italic>\n                    cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in the\n                    <jats:italic>NAA15<\/jats:italic>\n                    cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in\u2010person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our\n                    <jats:italic>NAA10<\/jats:italic>\n                    cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between the\n                    <jats:italic>NAA10<\/jats:italic>\n                    and\n                    <jats:italic>NAA15<\/jats:italic>\n                    variants. Our study includes novel neuroimaging of 13\n                    <jats:italic>NAA10<\/jats:italic>\n                    and 5\n                    <jats:italic>NAA15<\/jats:italic>\n                    probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63821","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T09:24:27Z","timestamp":1721121867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ophthalmic manifestations of\n                    <scp>\n                      <i>NAA10<\/i>\n                    <\/scp>\n                    \u2010related and\n                    <scp>\n                      <i>NAA15<\/i>\n                    <\/scp>\n                    \u2010related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors"],"prefix":"10.1002","volume":"194","author":[{"given":"Rahi","family":"Patel","sequence":"first","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes Y.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L.","family":"Gropman","sequence":"additional","affiliation":[{"name":"Department of Neurology George Washington University  Washington DC USA"},{"name":"Division of Neuroradiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew T.","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Department of Radiology Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Neurogenetics and Developmental Pediatrics Children's National Health System  Washington DC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5869-0716","authenticated-orcid":false,"given":"Gholson J.","family":"Lyon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"},{"name":"George A. Jervis Clinic New York State 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":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1996.tb12143.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2019.02.007"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/02841851231169176"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.5014\/ajot.49.9.899"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep16022"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.004"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz111"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.085"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11030322"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101660"},{"key":"e_1_2_12_12_1","volume-title":"StatPearls [Internet]","author":"Feroze K. 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