Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome

J Med Genet. 1988 Jan;25(1):44-6. doi: 10.1136/jmg.25.1.44.

Abstract

An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Friedreich Ataxia / genetics*
  • Glaucoma / congenital
  • Glaucoma / genetics*
  • Humans
  • Male
  • Pedigree
  • Syndrome