{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T18:08:17Z","timestamp":1770919697317,"version":"3.50.1"},"posted":{"date-parts":[[2024,2,2]]},"group-title":"Ophthalmology","reference-count":27,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,2,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  <jats:italic>NAA10<\/jats:italic>\n                  -related and\n                  <jats:italic>NAA15<\/jats:italic>\n                  -related neurodevelopmental syndrome, otherwise known as Ogden Syndrome, is 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                  mutations 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 mutations in the\n                  <jats:italic>NAA10<\/jats:italic>\n                  cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with pathogenic mutations 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-person 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 between the\n                  <jats:italic>NAA10<\/jats:italic>\n                  and\n                  <jats:italic>NAA15<\/jats:italic>\n                  mutations. 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":"10.1101\/2024.02.01.24302161","type":"posted-content","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T16:15:16Z","timestamp":1706890516000},"source":"Crossref","is-referenced-by-count":6,"title":["Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors"],"prefix":"10.64898","author":[{"given":"Rahi","family":"Patel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes Y.","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L.","family":"Gropman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew T.","family":"Whitehead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5869-0716","authenticated-orcid":false,"given":"Gholson J.","family":"Lyon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2024020510301224000_2024.02.01.24302161v1.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.085"},{"key":"2024020510301224000_2024.02.01.24302161v1.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2019.02.007"},{"key":"2024020510301224000_2024.02.01.24302161v1.3","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.201400631"},{"key":"2024020510301224000_2024.02.01.24302161v1.4","doi-asserted-by":"publisher","DOI":"10.2217\/pgs.11.117"},{"key":"2024020510301224000_2024.02.01.24302161v1.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.017"},{"key":"2024020510301224000_2024.02.01.24302161v1.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02427-4"},{"key":"2024020510301224000_2024.02.01.24302161v1.7","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01368-y"},{"key":"2024020510301224000_2024.02.01.24302161v1.8","doi-asserted-by":"publisher","DOI":"10.1038\/srep16022"},{"key":"2024020510301224000_2024.02.01.24302161v1.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.004"},{"key":"2024020510301224000_2024.02.01.24302161v1.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61928"},{"key":"2024020510301224000_2024.02.01.24302161v1.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23001"},{"key":"2024020510301224000_2024.02.01.24302161v1.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101660"},{"key":"2024020510301224000_2024.02.01.24302161v1.13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63152"},{"key":"2024020510301224000_2024.02.01.24302161v1.14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62351"},{"key":"2024020510301224000_2024.02.01.24302161v1.15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz111"},{"key":"2024020510301224000_2024.02.01.24302161v1.16","doi-asserted-by":"crossref","first-page":"2320","DOI":"10.1002\/mds.29241","article-title":"Neurodevelopmental gene-related dystonia: A pediatric case with NAA15 variant","volume":"37","year":"2022","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"key":"2024020510301224000_2024.02.01.24302161v1.17","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/8492965"},{"key":"2024020510301224000_2024.02.01.24302161v1.18","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(94)90073-6"},{"key":"2024020510301224000_2024.02.01.24302161v1.19","doi-asserted-by":"publisher","DOI":"10.5014\/ajot.49.9.899"},{"key":"2024020510301224000_2024.02.01.24302161v1.20","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/j.1469-8749.1996.tb12143.x","article-title":"Cognitive visual dysfunction in a child with cerebral damage","volume":"38","year":"1996","journal-title":"Dev. 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