{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T03:33:55Z","timestamp":1785555235834,"version":"3.56.0"},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    CHARGE syndrome is a rare multi\u2010system condition associated with\n                    <jats:italic>CHD7<\/jats:italic>\n                    variants. However, ocular manifestations and particularly ophthalmic genotype\u2013phenotype associations, are not well\u2010studied. This study evaluated ocular manifestations and genotype\u2013phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review included pediatric patients under 20\u2009years\u2010old with clinical diagnosis of CHARGE syndrome and documented ophthalmic examination. Demographics, genetic testing, and ocular findings were collected. Comprehensive literature review enhanced the genotype\u2013phenotype analysis. Forty\u2010two patients (20 male) underwent eye examination at an average age of 9.45\u2009\u00b1\u20096.52\u2009years\u2010old. Thirty\u2010nine (93%) had ophthalmic manifestations in at least one eye. Optic nerve\/chorioretinal colobomas were most common (38 patients), followed by microphthalmia (13), cataract (6), and iris colobomas (4). Extraocular findings included strabismus (32 patients), nasolacrimal duct obstructions (11, 5 with punctal agenesis), and cranial nerve VII palsy (10). Genotype\u2013phenotype analyses (27 patients) showed variability in ocular phenotypes without association to location or variant types. Splicing (10 patients) and frameshift (10) variants were most prevalent. Patients with CHARGE syndrome may present with a myriad of ophthalmic manifestations. There is limited data regarding genotype\u2013phenotype correlations and additional studies are needed.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63618","type":"journal-article","created":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T05:51:51Z","timestamp":1712728311000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Ocular manifestations of\n                    <scp>CHARGE<\/scp>\n                    syndrome in a pediatric cohort with genotype\/phenotype analysis"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-8020-3401","authenticated-orcid":false,"given":"Kunal","family":"Kanwar","sequence":"first","affiliation":[{"name":"Feinberg School of Medicine Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saffiya","family":"Bashey","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda L.","family":"Bohnsack","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Northwestern University Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Division of Ophthalmology Ann &amp; Robert H. 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