Systemic diagnostic testing in patients with apparently isolated uveal coloboma

Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5.


Purpose: To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma.

Design: Cross-sectional observational study.

Methods: setting: Single-center ophthalmic genetics clinic. study population: Ninety-nine patients with uveal coloboma seen at the National Eye Institute. observational procedure: Results of audiology testing, echocardiogram, brain magnetic resonance imaging, renal ultrasound, and total spine radiographs. main outcome measure: Prevalence of abnormal findings on systemic testing.

Results: Uveal coloboma affected only the anterior segment in 8 patients, only the posterior segment in 23 patients, and both anterior and posterior segments in 68 patients. Best-corrected visual acuity (BCVA) of eyes with coloboma was ≥20/40 in 45% of eyes; 23% of eyes had BCVA of ≤20/400. The majority of patients (74%) had good vision (>20/60) in at least 1 eye. Ten of the 19 patients (53%) who underwent echocardiography had abnormalities, with ventral septal defects being the most prevalent. Abnormal findings were observed in 5 of 72 patients (7%) who had a renal ultrasound and in 5 of 29 patients (17%) who underwent a brain MRI. Audiology testing revealed abnormalities in 13 of 75 patients (17%), and spine radiographs showed anomalies in 10 of 77 patients (13%). Most findings required no acute intervention.

Conclusions: Although some patients with coloboma had evidence of extraocular abnormalities, the majority of findings on routine clinical examination did not require acute intervention, but some warranted follow-up. Results from the systemic evaluation of patients with coloboma should be interpreted with caution and in view of their clinical context.

Publication types

  • Observational Study
  • Research Support, N.I.H., Intramural

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Adolescent
  • Adult
  • Anterior Eye Segment / abnormalities*
  • Anterior Eye Segment / pathology
  • Brain / abnormalities
  • Child
  • Child, Preschool
  • Coloboma / diagnosis*
  • Cross-Sectional Studies
  • Electrocardiography
  • Female
  • Hearing Disorders / diagnosis
  • Hearing Tests
  • Heart Defects, Congenital / diagnosis
  • Humans
  • Infant
  • Kidney / abnormalities
  • Magnetic Resonance Imaging
  • Male
  • Microphthalmos / diagnosis
  • Phenotype
  • Posterior Eye Segment / abnormalities*
  • Posterior Eye Segment / pathology
  • Spine / abnormalities
  • Visual Acuity / physiology
  • Young Adult