Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma
abstract
This abstract is available on the publisher's site.
Access this abstract nowPurpose: 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.
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Additional Info
Disclosure statements are available on the authors' profiles:
Uveal coloboma represents an incomplete formation of one or more structures from the front to back of the eye, typically of the iris, lens, or retina. When occurring in the iris, it presents as a striking keyhole or cat-eye appearance. Coloboma can occur in isolation or as part of a syndrome such as CHARGE, an acronym for Coloboma, Heart Defects, Atresia Choane, Retarded Growth and Development, and Ear Anomalies/Deafness. The authors provide evidence supporting the following protocol when a new patient is encountered with an apparently isolated coloboma (ie, without known syndromic involvement).