Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

Abstract excerpt

BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aniridia
• Share to Blepharoptosis
• Share to Eye Abnormalities