Notably, PAX6 mutations in humans also underlie a variable pan-ocular phenotype(s) including aniridia (iris hypoplasia), foveal hypoplasia, anterior segment dysgenesis 5 (ASD5), late-onset corneal dystrophy, ocular coloboma, and congenital cataract [190, 191]. This evidence concerns the gene PAX6 and Hypoplasia of the iris.