Children with Coloboma May Face Less Retinal Detachment Risk Than Presumed

Coloboma of both eyes (bilateral) in a 35 year old female patient showing enlarged pupils extending to the lower edge of the iris of each eye. This rare and harmless defect of the eye is congenital (present from birth).
Investigators continue to recommend regular fundus examinations.

This article is part of Ophthalmology Advisor’s conference coverage from the 2021 meeting of The Association for Research in Vision and Ophthalmology (ARVO), held virtually from May 1 to 7, 2021. The team at Ophthalmology Advisor will be reporting on a variety of the research presented by the eye and vision experts at ARVO. Check back for more from the ARVO 2021 Meeting.


Congenital chorioretinal coloboma is widely believed to be associated with acquired retinal detachment, and yet the specific risk for retinal separation in affected individuals younger than 18 years of age is not fully known. A study exploring the incidence of detachment in children with chorioretinal or optic nerve coloboma, headed by Sila Bal, MD, MPH was detailed in a poster presentation at the Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, held virtually from May 1-7, 2021.

The cohort study examined charts for 387 eyes of 258 patients 0.04 to 18.0 years of age, mean age 6.59 years, who visited an ophthalmology outpatient clinic in Philadelphia from 2009 to 2020.1 Individuals with congenital retinal detachment or retinal dysplasia were excluded from the sample.1 Along with incidence, investigators analyzed data to discern the age at onset of acquired retinal detachment.

Of the study population, 61.0% of the children displayed chorioretinal coloboma (CRC), 74.4% had optic nerve coloboma (ONC), and 35.4% exhibited CRC and ONC — bilateral coloboma occurred in close to 50.0% of the cohort.1 The percentage of patients with retinal detachment was low. “Two eyes of 2 children had acquired retinal detachment at ages 7 and 14 years (0.52% per eye, 95% CI, 0.06%-1.85%), of which 1 eye had both ONC and CRC and both eyes had CRC involving the macula and periphery,” according to the investigation.1

In previous studies, the rate of retinal detachment in children with ONC or CRC has been higher. In a 2014 study of 335 eyes in 198 pediatric patients, researchers discovered retinal detachment in 17.6% of children with chorioretinal coloboma.2 Another study found 8.1% prevalence of retinal or choroidal detachment in 86 eyes of 48 pediatric patients with small to large colobomas.3

A limitation of the current study is its retrospective design; however strengths of the analysis include a substantive sample size and long study period. Retinal detachment in children with coloboma does occur, but the risk may be lower than previously thought — although investigators recommend regular fundus examinations.1 

“A more complete understanding of secondary retinal detachment, including incidence with age and possible risk factors, and a randomized trial are needed before considering possible prophylactic laser treatment during early or later childhood,” added Dr. Bal.

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1. Bal S, Mills M, Tomlinson L, et al. Risk of acquired retinal detachment in children with ocular coloboma. Poster session. Presented at the Association for Research in Vision and Ophthalmology (ARVO) annual meeting; May 1-7, 2021. Abstract 3496330.

2. Uhumwangho OM, Jalali S. Chorioretinal coloboma in a paediatric population. Eye (Lond). 2014;28(6):728-33. doi:10.1038/eye.2014.61

3. Daufenbach DR, Ruttum MS, Pulido JS, Keech RV. Chorioretinal colobomas in a pediatric population. Ophthalmol. 1998;105(8):1455-8. doi:10.1016/S0161-6420(98)98028-9