title: Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Washington University School of Medicine, and St. Louis Children's Hospital.
authors.forename: James
authors.initials: J
authors.lastname: Hoekel
authors.affiliation: Department of Ophthalmology, Washington University School of Medicine, and St. Louis Children's Hospital.
authors.forename: Smith Ann
authors.initials: SA
authors.lastname: Chisholm
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, and St. Louis Children's Hospital.
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Lozi
authors.affiliation: Department of Psychiatry, Washington University School of Medicine, and St. Louis Children's Hospital; Department of Neurology, Washington University School of Medicine, and St. Louis Children's Hospital; Department of Radiology, Washington University School of Medicine, and St. Louis Children's Hospital.
authors.forename: Tamara
authors.initials: T
authors.lastname: Hershey
authors.affiliation: Department of Ophthalmology, Washington University School of Medicine, and St. Louis Children's Hospital; Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital. Electronic address: tychsen@vision.wustl.edu.
authors.forename: Lawrence
authors.initials: L
authors.lastname: Tychsen
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000175:diagnosis / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D055253:Color Vision / Q000502:physiology; D005128:Eye Diseases / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009412:Nerve Fibers / Q000473:pathology; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000503:physiopathology; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000503:physiopathology; D010641:Phenotype; D011681:Pupil Disorders / Q000175:diagnosis / Q000503:physiopathology; D012165:Retinal Ganglion Cells / Q000473:pathology; D012720:Severity of Illness Index; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D055815:Young Adult