title: Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
abstract: OBJECTIVE
  To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma.
  
  
  METHODS
  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.
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Nancy
authors.initials: N
authors.lastname: Huynh
authors.forename: Delphine
authors.initials: D
authors.lastname: Blain
authors.forename: Tanya
authors.initials: T
authors.lastname: Glaser
authors.forename: E Lauren
authors.initials: EL
authors.lastname: Doss
authors.forename: Wadih M
authors.initials: WM
authors.lastname: Zein
authors.forename: David M
authors.initials: DM
authors.lastname: Lang
authors.forename: Eva H
authors.initials: EH
authors.lastname: Baker
authors.forename: Suvimol
authors.initials: S
authors.lastname: Hill
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
authors.forename: Jeffrey B
authors.initials: JB
authors.lastname: Kopp
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Bardakjian
authors.forename: Irene H
authors.initials: IH
authors.lastname: Maumenee
authors.forename: Bronwyn J
authors.initials: BJ
authors.lastname: Bateman
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis*; D003430:Cross-Sectional Studies; D004562:Electrocardiography; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis; D006320:Hearing Tests; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis; D010641:Phenotype; D057972:Posterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D013131:Spine / Q000002:abnormalities; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult