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

Systemic diagnostic testing in patients with apparently isolated uveal coloboma

Nancy Huynh  1 , Delphine Blain, Tanya Glaser, E Lauren Doss, Wadih M Zein, David M Lang, Eva H Baker, Suvimol Hill, Carmen C Brewer, Jeffrey B Kopp, Tanya M Bardakjian, Irene H Maumenee, Bronwyn J Bateman, Brian P Brooks
Affiliations
Observational Study

Systemic diagnostic testing in patients with apparently isolated uveal coloboma

Nancy Huynh et al. Am J Ophthalmol. 2013 Dec.

Abstract

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.

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Conflict of interest statement

ALL AUTHORS HAVE COMPLETED AND SUBMITTED THE ICMJE FORM FOR DISCLOSURE OF POTENTIAL CONFLICTS OF INTEREST and none were reported. This work was supported by the intramural research programs of the National Eye Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute on Deafness and Other Communication Disorders, and the Clinical Center of the National Institutes of Health, U.S. Department of Health and Human Services, Bethesda, Maryland, USA. Contributions of authors: design of study (N.H., D.B., D.L.L., E.H.B., S.H., C.C.B., J.B.K., B.P.B.); acquisition of data (B.P.B., N.H., D.B., T.G., E.L.D., W.Z., D.L.L., E.H.B., S.H., C.C.B., J.B.K., T.M.B., I.H.M., B.J.B., B.P.B.); interpretation of data (N.H., D.B., T.G., B.P.B.); preparation of manuscript (N.H., B.P.B.); review and approval of manuscript (N.H., W.Z., D.L.L., E.H.B., S.H., C.C.B., J.B.K., T.M.B., I.H.M., B.J.B., B.P.B.).

Figures

FIGURE 1
FIGURE 1
Distribution of visual acuity based on uveal coloboma location and presence of microphthalmia (per eye).
FIGURE 2
FIGURE 2
Solitary right kidney in a patient with uveal coloboma. An axial ultrasound image demonstrates the right kidney in a normal position and orientation (K). However, the left renal fossa is empty (circle) and the left kidney was not found in an ectopic location.
FIGURE 3
FIGURE 3
Segmentation error detected on spine x-ray in a patient with uveal coloboma. (Left) Anteroposterior and (Right) lateral radiographs of the spine demonstrating 10 rib-bearing vertebrae (black numbers). The number of cervical, lumbar, and sacral vertebrae (white numbers) is normal.
FIGURE 4
FIGURE 4
Brain magnetic resonance imaging findings in a 26-month-old patient with bilateral uveal colobomas involving the iris and retina. (Top left) Type I Chiari malformation; the tips of the cerebellar tonsils lie 6 mm below the inferior margin of the foramen magnum (arrow), at the same level as the posterior arch of C1. (Top right) Prominent perivascular (Virchow-Robin) spaces are unusually numerous in the white matter of the cerebral hemispheres. (Bottom left) There are 2 subependymal cysts on the left side (arrow). (Bottom right) There are several nonenhancing lesions of indeterminate etiology (arrow) located in the perivascular white matter of the left temporal lobe.
See this image and copyright information in PMC

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