Aniridia associated with ptosis in three generations of the same family

Ann Trop Paediatr. 2005 Mar;25(1):59-62. doi: 10.1179/146532805X23380.

Abstract

Aniridia is a spectrum of abnormalities of the iris anatomy, which range from a total absence of the iris to a mild stromal hypoplasia with normal pupil. Aniridia associated with ptosis in three generations of the same family is described. The cases fit the autosomal dominant familial aniridia (AN1) type, a genetic form of congenital aniridia characterised by isolated ocular defects.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aniridia / complications*
  • Aniridia / genetics
  • Blepharoptosis / complications*
  • Blepharoptosis / genetics
  • Child, Preschool
  • Family Health*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pedigree