Incidence, ocular findings, and systemic associations of ocular coloboma: A population-based study

Kelly M. Nakamura, Nancy N. Diehl, Brian G. Mohney

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)69-74
Number of pages6
JournalArchives of Ophthalmology
Volume129
Issue number1
DOIs
StatePublished - Jan 2011

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Coloboma
Incidence
Population
Amblyopia
Strabismus
Live Birth
CHARGE Syndrome
Choanal Atresia
Growth and Development
Medical Records
Ear
Pediatrics

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Incidence, ocular findings, and systemic associations of ocular coloboma : A population-based study. / Nakamura, Kelly M.; Diehl, Nancy N.; Mohney, Brian G.

In: Archives of Ophthalmology, Vol. 129, No. 1, 01.2011, p. 69-74.

Research output: Contribution to journalArticle

Nakamura, Kelly M. ; Diehl, Nancy N. ; Mohney, Brian G. / Incidence, ocular findings, and systemic associations of ocular coloboma : A population-based study. In: Archives of Ophthalmology. 2011 ; Vol. 129, No. 1. pp. 69-74.
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abstract = "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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