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Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. J AAPOS 2014 Oct;18(5):461-465.e1

Date

12/03/2014

Pubmed ID

25439303

Pubmed Central ID

PMC4476046

DOI

10.1016/j.jaapos.2014.07.162

Scopus ID

2-s2.0-84908210973 (requires institutional sign-in at Scopus site)   39 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 < 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.

Author List

Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L, Washington University Wolfram Study Group

Author

Smith Ann Meile Chisholm MD Assistant Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Cataract
Child
Child, Preschool
Color Vision
Eye Diseases
Female
Humans
Male
Nerve Fibers
Nystagmus, Pathologic
Optic Nerve Diseases
Phenotype
Pupil Disorders
Retinal Ganglion Cells
Severity of Illness Index
Tomography, Optical Coherence
Vision Disorders
Visual Acuity
Visual Fields
Wolfram Syndrome
Young Adult