Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome

The Washington University Wolfram Study Group

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

PURPOSE: To describe an ophthalmic phenotype in children at relatively early stages of Wolfram syndrome.

METHODS Quantitative ophthalmic testing of visual acuity, color vision, automated visual field sensitivity, optic nerve pallor and cupping, and retinal nerve fiber layer (RNFL) thickness assessed by optical coherence tomography (OCT) was performed in 18 subjects 5-25 years of age. Subjects were also examined for presence or absence of afferent pupillary defects, cataracts, nystagmus, and strabismus.

RESULTS: Subnormal visual acuity was detected in 89% of subjects, color vision deficits in 94%, visual field defects in 100%, optic disk pallor in 94%, abnormally large optic nerve cup:disk ratio in 33%, thinned RNFL in 100%, afferent pupillary defects in 61%, cataracts in 22%, nystagmus in 39%, and strabismus in 39% of subjects. RNFL thinning (P≤lt; 0.001), afferent pupillary defects (P = 0.01), strabismus (P = 0.04), and nystagmus (P = 0.04) were associated with more severe disease using the Wolfram United Rating Scale.

CONCLUSIONS: Children and adolescents with Wolfram syndrome have multiple ophthalmic markers that correlate with overall disease severity. RNFL thickness measured by OCT may be the most reliable early marker.

Original languageEnglish (US)
Pages (from-to)461-465.e1
JournalJournal of AAPOS
Volume18
Issue number5
DOIs
StatePublished - Oct 1 2014

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Fingerprint Dive into the research topics of 'Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome'. Together they form a unique fingerprint.

  • Cite this