Optic Disc Coloboma in children – prevalence, clinical characteristics and associated morbidity

• Published in: Acta ophthalmologica (Oxford, England) England), 2019-08, Vol.97 (5), p.478-485
• Main Authors: Skriapa Manta, Athanasia, Olsson, Monica, Ek, Ulla, Wickström, Ronny, Teär Fahnehjelm, Kristina
• Format: Article
• Language: English
• Subjects: Acuity; behaviour; Blindness; Children; cognition; Cognitive ability; Congenital defects; Eye; Hypoplasia; Medicin och hälsovetenskap; Morbidity; Neurological complications; neurology; Nystagmus; optic disc coloboma; Optic nerve; Population studies; prevalence; Retina; Visual acuity; visual outcome
• ISSN: 1755-375X; 1755-3768; 1755-3768
• DOI: 10.1111/aos.13999

Purpose The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (ODC). Methods This was a population‐based, cross‐sectional study of 31 children between 2 and 18 years of age diagnosed with ODC. 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. Results The prevalence of ODC was 8.9/100 000 children. Of the 31 patients, 18 had unilateral ODC (p = 0.21). The best‐corrected visual acuity (BCVA) in the ODC eye ranged from blindness to 1.3 (median 0.3). BCVA was 0.82 in eyes with an isolated ODC (range 0.4–1.3) and 0.15 (range 0–0.5) in eyes with concurrent macular involvement (p