Specific corneal epithelial cell markers in congenital aniridia

Abstract

Congenital aniridia is a rare panocular disease in which almost all structures of the eye are affected. The observed corneal abnormalities are called aniridia‐associated keratopathy (AAK). AAK is characterized by progressive limbal stem cell deficiency (LSCD), epithelial thinning and erosions, corneal ulceration, vascularization, inflammation and pannus formation. Although in some aspects AAK resembles other types of LSCD, through its specific genetic origin, alterations in corneal epithelial cell gene expression differ from other types of corneal diseases. Primary limbal epithelial cells of aniridia subjects lack expression of KRT3 and KRT12 mRNA and protein, and DSG1, ADH7, FABP5, CRABP2, SPINK7 and ALDH1A1 mRNA expression is decreased in these cells. However, miRNA 138‐5p expression is upregulated. This epithelial behaviour can also be mimicked using an siRNA based aniridia primary limbal epithelial cell model.