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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
Summary
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.
- 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.