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

Relationship between neural crest cell specification and rare ocular diseases

Monica Akula  1 , Jeong Won Park  1 , Judith A West-Mays  1
Affiliations
Review

Relationship between neural crest cell specification and rare ocular diseases

Monica Akula et al. J Neurosci Res. 2019 Jan.

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.

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Conflict of interest statement

Conflict of Interest Statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Neural crest cell specification
Structures derived from neural crest cells are given in purple, such as the corneal stroma, corneal endothelium, ciliary body stroma and iris stroma, whereas mesoderm-derived structures, like Schlemm’s canal (adjacent to the trabecular meshwork) and sclera, are given in green, and the surface ectoderm-derived lens and corneal epithelium are given in blue.
See this image and copyright information in PMC

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