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Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study
Kelly M Nakamura1, Nancy N Diehl, Brian G Mohney
1Mayo Clinic College of Medicine, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
Insights
Ocular coloboma affects 1 in 2077 live births, often co-occurring with other eye conditions like amblyopia and strabismus. Many children with coloboma also have nonocular disorders, including CHARGE syndrome.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Coloboma is a congenital eye malformation with varying clinical presentations.
- Understanding its incidence and associated conditions is crucial for early diagnosis and management.
Purpose of the Study:
- To determine the incidence, ocular characteristics, and systemic associations of pediatric ocular coloboma.
- To provide population-based data on coloboma in children.
Main Methods:
- Retrospective review of medical records for pediatric patients (<19 years) diagnosed with ocular coloboma.
- Study conducted in Olmsted County, Minnesota, from 1968 to 2007.
Main Results:
- Ocular coloboma incidence was 2.4 per 100,000 children, with a prevalence of 1 in 2077 live births.
- 58% experienced other ocular disorders (amblyopia, strabismus), and 67% had nonocular disorders (abnormal development, CHARGE syndrome).
- Unilateral involvement was seen in 67% of patients.
Conclusions:
- Ocular coloboma is relatively rare but frequently associated with significant ocular and systemic comorbidities.
- CHARGE syndrome was identified in 12% of affected children.
- Comprehensive evaluation is essential for children diagnosed with ocular coloboma.
Objective:
To describe the incidence, ocular findings, and systemic associations of coloboma in a population-based cohort of children.
Methods:
We retrospectively reviewed the medical records of pediatric (aged <19 years) patients diagnosed as having ocular coloboma from January 1, 1968, through December 31, 2007, as residents of Olmsted County, Minnesota.
Results:
Thirty-three children were newly diagnosed as having ocular coloboma (annual incidence, 2.4 per 100,000 residents <19 years old; prevalence, 1 in 2077 live births). Median patient age at diagnosis was 3.9 months (range, 2 days to 18.4 years), and 22 patients (67%) had unilateral involvement. Twelve patients (36%) had involvement of the anterior segment only, 13 (39%) of the posterior segment only, and 8 (24%) of both. During median ophthalmologic follow-up of 9.2 years (range, 13 days to 35.9 years), 19 patients (58%) had other ocular disorders, including amblyopia in 11 (33%) and strabismus in 10 (30%). During median medical follow-up of 16.8 years, 22 patients (67%) were diagnosed as having a nonocular disorder, including abnormal development in 12 (36%) and CHARGE (coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies) syndrome in 4 (12%).
Conclusions:
Ocular coloboma occurred in 1 in 2077 live births. More than half of the patients were diagnosed as having an ocular disorder other than coloboma, including strabismus and amblyopia in approximately one-third. Two-thirds of patients were diagnosed as having a nonocular disorder, including CHARGE syndrome in 1 in 8 patients.
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