PAX6 and congenital eye malformations

Pediatr Res. 2003 Dec;54(6):791-6. doi: 10.1203/01.PDR.0000096455.00657.98. Epub 2003 Oct 15.


The PAX6 gene is a paradigm for our understanding of the molecular genetics of mammalian eye development. Twelve years after its identification it is one of the most intensively studied genes, both in terms of its diverse and complex functions during oculogenesis and its role in an ever-increasing variety of human congenital eye malformations. The PAX6 field has benefited greatly from the continued input of clinicians, human geneticists and developmental biologists. This review summarizes the latest data on the PAX6 mutation spectrum and recent insights into Pax6 function from the mouse.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Child
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Eye Proteins
  • Homeodomain Proteins / genetics*
  • Humans
  • Mutation
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins


  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • Repressor Proteins