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Optic atrophy in Wolfram (DIDMOAD) syndrome

T G Barrett1, S E Bundey, A R Fielder

  • 1Department of Clinical Genetics, Institute of Child Health, University of Birmingham, UK.

Eye (London, England)
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

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Wolfram syndrome, a neurodegenerative disorder, involves diabetes mellitus and progressive optic atrophy. This study identified 45 patients, highlighting optic nerve pathology as the likely cause.

Area of Science:

  • Neuro-ophthalmology
  • Genetics
  • Endocrinology

Background:

  • Wolfram syndrome (DIDMOAD) is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Diagnostic confusion arises from incomplete characterization of this rare genetic disorder.
  • A nationwide cross-sectional study was conducted to identify and characterize patients with Wolfram syndrome.

Observation:

  • 45 patients with Wolfram syndrome were identified, with a median age of 29 years.
  • Optic atrophy, presenting with reduced visual acuity and color vision defects, was observed in 38 patients.
  • Neurological signs included generalized brain atrophy, optic nerve and chiasm signal reduction, and cerebellar degeneration.

Findings:

  • Optic atrophy progressed to severe visual impairment in most patients.

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  • Visual field defects showed central scotomas and peripheral constriction.
  • Neuroimaging revealed generalized brain atrophy and optic nerve pathology, with no evidence of mitochondrial defects.

    • Implications:

    • Wolfram syndrome is a primary neurodegenerative disorder presenting with diabetes mellitus and progressive optic atrophy.
    • Pathology likely originates in the optic nerve, leading to visual impairment.
    • Further research into the underlying mechanisms of optic nerve degeneration in Wolfram syndrome is warranted.