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Abstract
Aniridia is a rare yet visually detrimental condition, primarily caused by a heterozygous null mutation in the master regulator gene Pax6. Among other symptoms, aniridia often results in progressive corneal clouding, called aniridia-related keratopathy. This work outlines the current hypotheses as to the causes of corneal clouding and aims to address a few of these hypotheses through clinical, histological, and immunofluorescent evaluation of aniridic corneas in a mouse model. Through clinical evaluation, we characterize features of the aniridic cornea before and after the onset of aniridia-related keratopathy. Through histological evaluation, we show the correlation of conjunctivalization to corneal clouding. Through immunofluorescent evaluation, we demonstrate the presence of markers of inflammation and fibrosis. All of these techniques provide a clearer picture of what is clouding up the cornea in aniridia-related keratopathy.