Ocular Findings in Children With 22q11.2 Deletion Syndrome

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dc.contributor.authorGokturk, Bahar
dc.contributor.authorTopcu-Yilmaz, Pinar
dc.contributor.authorBozkurt, Banu
dc.contributor.authorYildirim, Mahmut Selman
dc.contributor.authorGuner, Sukru Nail
dc.contributor.authorSayar, Esra Hazar
dc.contributor.authorReisli, Ismail
dc.date.accessioned2024-02-23T14:37:29Z
dc.date.available2024-02-23T14:37:29Z
dc.date.issued2016
dc.departmentNEÜen_US
dc.description.abstractPurpose: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Methods: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. Results: All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. Conclusions: The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion.en_US
dc.identifier.doi10.3928/01913913-20160427-01
dc.identifier.endpage222en_US
dc.identifier.issn0191-3913
dc.identifier.issn1938-2405
dc.identifier.issue4en_US
dc.identifier.pmid27182748en_US
dc.identifier.scopus2-s2.0-84980037354en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage218en_US
dc.identifier.urihttps://doi.org/10.3928/01913913-20160427-01
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16131
dc.identifier.volume53en_US
dc.identifier.wosWOS:000393046200007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSlack Incen_US
dc.relation.ispartofJournal Of Pediatric Ophthalmology & Strabismusen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleOcular Findings in Children With 22q11.2 Deletion Syndromeen_US
dc.typeArticleen_US

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