Developmental eye disorders

Curr Opin Genet Dev. 2005 Jun;15(3):348-53. doi: 10.1016/j.gde.2005.04.013.


In developed countries, malformations of the eye are among the most common causes of serious visual impairment in newborns. The identification of pathogenic mutations in autosomal and X-linked transcription factors has advanced our understanding of the critical stages in human eye development and has begun to explain some unusual inheritance characteristics of these disorders. The functional characterisation of these genes in model organisms has prompted reinvestigation of affected individuals to identify previously unrecognized but consistent extra-ocular malformations. This dialogue between clinical genetics and basic developmental biology provides a paradigm to enhance our understanding of many critical developmental processes in human embryogenesis.

Publication types

  • Review

MeSH terms

  • Animals
  • Body Patterning
  • Eye Diseases / congenital
  • Eye Diseases / embryology*
  • Eye Diseases / genetics*
  • Eye Diseases / metabolism
  • Eye Proteins / genetics
  • Eye Proteins / metabolism
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Mutation / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism


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