PAX6 and aniridia: Nonsense mutations or deletions of the PAX6 gene primarily cause aniridia due to its haplo-insufficiency [5], while missense mutations of this gene are associated with a diversity of eye abnormalities through gain-of-function of the mutated protein, such as Peters’ anomaly, corneal dystrophy and opacification, congenital cataracts, glaucoma, and foveal hypoplasia [2,6,7].