Developmental eye disorders

David R Fitzpatrick, Veronica van Heyningen

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.
Original languageEnglish
Pages (from-to)348-53
Number of pages6
JournalCurrent Opinion in Genetics and Development
Issue number3
Publication statusPublished - Jun 2005

Keywords / Materials (for Non-textual outputs)

  • Animals
  • Body Patterning
  • Eye Diseases
  • Eye Proteins
  • Homeodomain Proteins
  • Humans
  • Mutation
  • Paired Box Transcription Factors
  • Repressor Proteins


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