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Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases
1The Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, NY, USA. cvekl@aecom.yu.edu
Abstract:
During development of the anterior eye segment, cells that originate from the surface epithelium or the neuroepithelium need to interact with mesenchymal cells, which predominantly originate from the neural crest. Failures of proper interaction result in a complex of developmental disorders such Peters' anomaly, Axenfeld-Rieger's syndrome or aniridia. Here we review the role of transcription factors that have been identified to be involved in the coordination of anterior eye development. Among these factors is PAX6, which is active in both epithelial and mesenchymal cells during ocular development, albeit at different doses and times. We propose that PAX6 is a key element that synchronizes the complex interaction of cell types of different origin, which are all needed for proper morphogenesis of the anterior eye. We discuss several molecular mechanisms that might explain the effects of haploinsufficiency of PAX6 and other transcription factors, and the broad variation of the resulting phenotypes.
Insights
Transcription factors like PAX6 are crucial for coordinating cell interactions during anterior eye development. Haploinsufficiency of these factors can lead to various ocular developmental disorders.
Area of Science:
- Developmental biology
- Ophthalmology
- Genetics
Background:
- Proper development of the anterior eye segment relies on intricate cell interactions between epithelial, neuroepithelial, and neural crest-derived mesenchymal cells.
- Disruptions in these cellular interactions are linked to congenital ocular disorders such as Peters' anomaly, Axenfeld-Rieger's syndrome, and aniridia.
Purpose of the Study:
- To review the role of transcription factors in coordinating anterior eye development.
- To highlight PAX6 as a key factor in synchronizing cell type interactions for proper eye morphogenesis.
- To discuss molecular mechanisms underlying transcription factor haploinsufficiency and phenotypic variations in ocular development.
Main Methods:
- Literature review of transcription factors involved in anterior eye development.
- Analysis of PAX6's role in different cell types and developmental stages.
- Discussion of molecular mechanisms and genotype-phenotype correlations.
Main Results:
- Transcription factors, notably PAX6, are essential for orchestrating cell-cell interactions during anterior eye development.
- PAX6 functions in both epithelial and mesenchymal cells, with its dosage and timing critical for its role.
- Haploinsufficiency of PAX6 and other transcription factors can result in a spectrum of ocular developmental abnormalities.
Conclusions:
- PAX6 acts as a central regulator, synchronizing diverse cell origins for correct anterior eye morphogenesis.
- Understanding transcription factor roles, particularly PAX6, is vital for elucidating the etiology of congenital eye disorders.
- Molecular mechanisms of haploinsufficiency explain the wide range of phenotypes observed in ocular developmental defects.
