Relationship between neural crest cell specification and rare ocular diseases

J Neurosci Res. 2019 Jan;97(1):7-15. doi: 10.1002/jnr.24245. Epub 2018 Apr 16.

Abstract

Development of the eye is closely associated with neural crest cell migration and specification. Eye development is extremely complex, as it requires the working of a combination of local factors, receptors, inductors, and signaling interactions between tissues such as the optic cup and periocular mesenchyme (POM). The POM is comprised of neural crest-derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye. A number of genes are involved in the migration and specification of the POM such as PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, GPR48, TFAP2A, and TFAP2B. In this review, we will discuss the relevance of these genes in the development of the POM and how mutations and defects result in rare ocular diseases.

Keywords: animal models; anterior segment dysgenesis; development; genetics; neural crest; ocular disease.

Publication types

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

MeSH terms

  • Anterior Eye Segment / abnormalities
  • Eye Abnormalities / genetics*
  • Eye Diseases / genetics*
  • Eye Diseases / pathology
  • Humans
  • Mutation
  • Neural Crest / abnormalities*
  • Neural Crest / metabolism*
  • Posterior Eye Segment / abnormalities
  • Rare Diseases / genetics*
  • Rare Diseases / pathology
  • Transcription Factors

Substances

  • Transcription Factors