title: Optic atrophy as a sign of wolfram syndrome.
abstract: BACKGROUND
  The hallmark of Wolfram syndrome -- an extremely rare autosomal recessive disorder -- is the association of juvenile onset diabetes mellitus with optic atrophy. Additional symptoms such as deafness and diabetes insipidus may develop.
  
  
  METHODS
  An 18-year-old man suffered progressive visual loss over the last seven years. Severe optic atrophy with extensive cupping and slightly elevated intraocular pressure in both eyes were found. Perimetry revealed peripheral defects with paracentral scotomas. ERG results excluded tapetoretinal degeneration; visual evoked responses were delayed. At the age of nine the patient had been diagnosed with diabetes mellitus type I and neurosensory deafness, seven years later a beginning hypogonadism was found.
  
  
  RESULTS
  Wolfram syndrome is a progressive degenerative disorder with reduced life expectancy. Treatment is symptomatic.
  
  
  CONCLUSIONS
  Wolfram syndrome should be considered in every patient who presents with optic atrophy and juvenile onset diabetes mellitus.
authors.affiliation: Department of Ophthalmology, University Hospital Zurich, Switzerland. wasiliki.dedes@usz.ch
authors.forename: W
authors.initials: W
authors.lastname: Dedes
authors.forename: H
authors.initials: H
authors.lastname: Wildberger
authors.forename: K
authors.initials: K
authors.lastname: Landau
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D005808:Genes, Recessive; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D014787:Vision Tests; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000235:genetics