PAX6 and aniridia: Notably, mutations in Pax6 are more typically associated with aniridia, a panocular congenital disease characterized by foveal hypoplasia, optic nerve hypoplasia, limbal stem cell deficiency, and varying degrees of iris hypoplasia (reviewed in Lim et al., 2017; Sannan et al., 2017; Syrimis et al., 2018; Wawrocka and Krawczynski, 2018; Lima Cunha et al., 2019; Lee et al., 2020; Tripathy and Salini, 2020).