PAX6 and coloboma: In contrast, missense variants in PAX6 are mostly concentrated in exons 5 and 6, which encode for the PD, and are largely associated with non-aniridia phenotypes such as microphthalmia, ocular coloboma (OMIM 120200), foveal hypoplasia with or without anterior segment anomalies and/or cataract (OMIM 136520) [3, 7].