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

The Washington University Wolfram Study Group

Research output: Contribution to journalArticle

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

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Wolfram Syndrome
Pupil Disorders
Nerve Fibers
Strabismus
Pallor
Color Vision
Optical Coherence Tomography
Optic Nerve
Visual Fields
Cataract
Visual Acuity
Tungsten
Optic Disk
Phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this

Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. / The Washington University Wolfram Study Group.

In: Journal of AAPOS, Vol. 18, No. 5, 01.10.2014, p. 461-465.e1.

Research output: Contribution to journalArticle

The Washington University Wolfram Study Group. / Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. In: Journal of AAPOS. 2014 ; Vol. 18, No. 5. pp. 461-465.e1.
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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.",
author = "{The Washington University Wolfram Study Group} and James Hoekel and Chisholm, {Smith Ann} and Amal Al-Lozi and Tamara Hershey and Gammon Earhart and Timothy Hullar and Roanne Karzon and Lugar, {Heather M.} and Linda Manwaring and Bess Marshall and Paciorkowski, {Alex R.} and Yanina Pepino and Kristen Pickett and Alan Permutt and Samantha Ranck and Angela Reiersen and Lawrence Tychsen and Amy Viehoever and White, {Neil H.} and Fumi Urano and Jon Wasson",
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AU - The Washington University Wolfram Study Group

AU - Hoekel, James

AU - Chisholm, Smith Ann

AU - Al-Lozi, Amal

AU - Hershey, Tamara

AU - Earhart, Gammon

AU - Hullar, Timothy

AU - Karzon, Roanne

AU - Lugar, Heather M.

AU - Manwaring, Linda

AU - Marshall, Bess

AU - Paciorkowski, Alex R.

AU - Pepino, Yanina

AU - Pickett, Kristen

AU - Permutt, Alan

AU - Ranck, Samantha

AU - Reiersen, Angela

AU - Tychsen, Lawrence

AU - Viehoever, Amy

AU - White, Neil H.

AU - Urano, Fumi

AU - Wasson, Jon

PY - 2014/10/1

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