Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features

Br J Ophthalmol. 1989 Dec;73(12):1011-4. doi: 10.1136/bjo.73.12.1011.

Abstract

A case of cerebrotendinous xanthomatosis is reported. In addition to the classical ophthalmic and systemic features the patient presented with unilateral proptosis. This feature has never previously been reported. The results of investigations are described and illustrated.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases, Metabolic / complications*
  • Brain Diseases, Metabolic / drug therapy
  • Exophthalmos / drug therapy
  • Exophthalmos / etiology*
  • Humans
  • Male
  • Tendons*
  • Ursodeoxycholic Acid / therapeutic use
  • Xanthomatosis / complications*
  • Xanthomatosis / drug therapy

Substances

  • Ursodeoxycholic Acid