Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)

Ophthalmic Paediatr Genet. 1984 Apr;4(1):29-32. doi: 10.3109/13816818409009891.

Abstract

Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / genetics*
  • Child, Preschool
  • Electroretinography
  • Female
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Iris / abnormalities*
  • Iris Diseases / complications
  • Iris Diseases / genetics*
  • Syndrome