WFS1 gene


Gene (OMIM No.)
Function of gene/protein
  • Wolframin
  • Involved in endoplasmic reticulum function and calcium homeostasis
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Diabetes insipidus
  • Diabetes mellitus
  • Hearing loss
Key investigations
  • Genetic testing: identification of WFS1 mutations
  • Blood tests for diabetes
  • Audiometric assessments
  • Multidisciplinary approach including endocrinology, neurology, and ophthalmologys
Therapies under research
  • None at present

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  1.  Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. Journal of medical genetics. 2006 May 1;43(5):435-40.

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Updated on July 5, 2024
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