{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T14:11:22Z","timestamp":1780927882295,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T00:00:00Z","timestamp":1599696000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients\u2014clinically confirmed diagnosis with positive CHD7 mutation\u2014seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13\/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9\/13) had strabismus, 76.9% (10\/13) had a refractive error that warranted refractive correction, 23.1% (3\/13) had amblyopia, 38.5% (5\/13) had nasolacrimal duct obstruction, 30.8% (4\/13) had dry eye syndrome and exposure keratopathy, 15.4% (2\/13) had ptosis, 15.4% (2\/13) had blepharitis, 15.4% (2\/13) had Cortical Visual Impairment, 7.7% (1\/13) of patients had optic nerve drusen, 7.7% (1\/13) had Marcus Gunn Jaw Winking, and 7.7% (1\/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.<\/jats:p>","DOI":"10.1002\/ajmg.c.31840","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T06:45:23Z","timestamp":1600929923000},"page":"611-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp>CHARGE<\/scp> syndrome without colobomas: Ophthalmic findings"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1992-2203","authenticated-orcid":false,"given":"Eniolami O.","family":"Dosunmu","sequence":"first","affiliation":[{"name":"Cincinnati Children's Hospital Abrahamson Pediatric Eye Institute  Cincinnati Ohio USA"},{"name":"Department of Ophthalmology University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine M.","family":"Castleberry","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Abrahamson Pediatric Eye Institute  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-34"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(88)32968-4"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.11.014"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.04.034"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joco.2017.08.009"},{"issue":"2","key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation \u2013 A syndrome","volume":"16","author":"Hittner H. M.","year":"1979","journal-title":"Journal of Pediatric Ophthalmology and Strabismus"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_9_12_1","first-page":"1993","volume-title":"GeneReviews\u00ae [internet]","author":"Lalani S. R.","year":"2006"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A5612"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31594"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34400"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.74.7.421"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_9_20_1","unstructured":"World Health Organization. (2019). Blindness and visual impairment.https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/blindness-and-visual-impairment."},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33323"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31840","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31840","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31840","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T05:25:44Z","timestamp":1693545944000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/ajmg.c.31840"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31840","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"2020-07-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}