TY - JOUR
T1 - Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome
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
N1 - Publisher Copyright:
Copyright © 2014 by the American Association for Pediatric Ophthalmology and Strabismus.
PY - 2014/10/1
Y1 - 2014/10/1
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jaapos.2014.07.162
DO - 10.1016/j.jaapos.2014.07.162
M3 - Article
C2 - 25439303
AN - SCOPUS:84908210973
SN - 1091-8531
VL - 18
SP - 461-465.e1
JO - Journal of AAPOS
JF - Journal of AAPOS
IS - 5
ER -