Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert, Vasilis Vasiliou*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from Vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is essential for normal optic vesicle and anterior segment formation. Perturbation in RA-signaling can result in severe ocular developmental diseases-including microphthalmia, anophthalmia, and coloboma. RA-signaling is also essential for embryonic development and life, as indicated by the significant consequences of mutations in genes involved in RA-signaling. The requirement of RA-signaling for normal development is further supported by the manifestation of severe pathologies in animal models of RA deficiency-such as ventral lens rotation, failure of optic cup formation, and embryonic and postnatal lethality. In this review, we summarize RA-signaling, recent advances in our understanding of this pathway in eye development, and the requirement of RA-signaling for embryonic development (e.g., organogenesis and limb bud development) and life.

Original languageEnglish (US)
Article number61
JournalHuman genomics
Issue number1
StatePublished - Dec 3 2019


  • ExAC
  • Eye Development
  • Retinoic Acid
  • gnomAD

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery


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