Chorioretinal colobomas in a pediatric population

Abstract

Objective: The purpose of the study was to determine the prevalence of retinal detachment and associated anomalies in pediatric patients with chorioretinal colobomas.

Design: Observational case series.

Participants: Forty-eight patients (86 eyes) of patients with chorioretinal colobomas followed in two academic pediatric eye clinics were reviewed.

Main outcome measures: The frequency of associated systemic abnormalities and the prevalence of retinal or choroidal detachment during the follow-up period.

Results: Forty-eight patients (86 eyes) were identified; ocular involvement ranged from small colobomas with isolated chorioretinal involvement to large colobomas affecting the iris, choroid, retina, and optic nerve. The mean ages at initial and most recent examinations were 27 and 100 months, respectively. Follow-up averaged 6 years, 1 month. Six retinal detachments were found in four patients. Patient ages at the time of detection of retinal detachment were 5 months, 29 months, 10 years, and 15 years. A choroidal detachment was found in a child at age 9 years. The combined prevalence of retinal or choroidal detachment was 10.4% of patients and 8.1% of affected eyes. Thirteen eyes were microphthalmic, and six had microcornea. Eighteen patients (38%) had other systemic abnormalities.

Conclusions: The 8.1% prevalence of retinal or choroidal detachment among eyes in our series was much smaller than previously cited estimates of 23% to 43%. The higher figures probably reflect a referral bias toward patients with vitreoretinal problems and an older patient population. Because of the acknowledged difficulty of managing retinal detachments in patients with chorioretinal colobomas, emphasis should be directed toward early detection and possible prophylactic therapy. The high proportion of patients who have associated systemic abnormalities indicates the need for thorough evaluation of these children by other pediatric specialists.