{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:44:25Z","timestamp":1787013865335,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T00:00:00Z","timestamp":1544659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003749","name":"L\u00e4nsstyrelsen \u00d6sterg\u00f6tland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003749","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010810","name":"\u00d6gonfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010810","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2019,8]]},"abstract":"Abstract<\/jats:title>\n \n Purpose<\/jats:title>\n \n The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (\n ODC<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This was a population\u2010based, cross\u2010sectional study of 31 children between 2 and 18\u00a0years of age diagnosed with\n ODC<\/jats:styled-content>\n . The children were part of a larger cohort of 184 children with congenital optic disc malformations. Clinical ophthalmological examinations, neurological assessments, behavioural and developmental screening were performed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The prevalence of\n ODC<\/jats:styled-content>\n was 8.9\/100\u00a0000 children. Of the 31 patients, 18 had unilateral\n ODC<\/jats:styled-content>\n (p\u00a0=\u00a00.21). The best\u2010corrected visual acuity (\n BCVA<\/jats:styled-content>\n ) in the\n ODC<\/jats:styled-content>\n eye ranged from blindness to 1.3 (median 0.3).\n BCVA<\/jats:styled-content>\n was 0.82 in eyes with an isolated\n ODC<\/jats:styled-content>\n (range 0.4\u20131.3) and 0.15 (range 0\u20130.5) in eyes with concurrent macular involvement (p\u00a0<\u00a00.0001). Nystagmus was observed more often in patients with bilateral\n ODC<\/jats:styled-content>\n (9\/13 versus 3\/17, p\u00a0=\u00a00.004). Two patients had retinal detachment. Behavioural\/psychological screening was performed in 21 patients with severe deficits identified in six cases. Intellectual disability was present in seven patients. Neurological dysfunction was diagnosed in 8\/22 cases. All of the above children had already systemic diagnoses before the\n ODC<\/jats:styled-content>\n diagnosis was made.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n ODC<\/jats:styled-content>\n was the second most common optic disc malformation in this cohort after optic nerve hypoplasia. The children had a wide range of ocular comorbidity. An isolated\n ODC<\/jats:styled-content>\n without macular involvement was not associated with profound vision loss. The ability of screening in the regular child care centres to diagnose extraocular comorbidities was very good and referral to a paediatrician appears redundant in cases of normal development.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/aos.13999","type":"journal-article","created":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T23:48:51Z","timestamp":1544744931000},"page":"478-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Optic Disc Coloboma in children \u2013 prevalence, clinical characteristics and associated morbidity"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2838-9030","authenticated-orcid":false,"given":"Athanasia","family":"Skriapa Manta","sequence":"first","affiliation":[{"name":"Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden"},{"name":"Department of Paediatric Ophthalmology and Strabismus St. Erik Eye Hospital Stockholm 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