Abstract
Purpose: :
To evaluate the role of crumbs genes and related epithelial polarity loci in the vertebrate cornea.
Methods: :
We used histological analysis and electron microscopy to evaluate the cornea in zebrafish that carry a mutation in a crumbs locus oko meduzy, as well as in mutants of four other loci that function in the same or related genetic pathways. In parallel, we performed an evaluation of corneas in human carriers of crumbs mutations using topography, biomicroscopy, and specular microscopy.
Results: :
The corneas of zebrafish mutants display severe abnormalities of the epithelium and the stroma. Corneal epithelial cells do not properly adhere to one another, and fluid-filled spaces form in between them. In addition, the layering of corneal stroma is poorly formed or absent in mutant corneas. The corneas of human carriers of crumbs mutations display shape deviations, compared to normal individuals.
Conclusions: :
The crumbs gene plays a role in the differentiation of the vertebrate cornea. Defects associated with crumbs gene mutations are very severe in the zebrafish model, and relatively mild in the human eye.
Keywords: cornea: epithelium • cornea: stroma and keratocytes • pathology: human