To data, over 300 mutations of the PAX6 gene caused different disease phenotypes through gain-of-function or loss-of-function, such as Aniridia (OMIM 106210), Cataract with late-onset corneal dystrophy (OMIM 106210), ocular coloboma (OMIM 120200), Coloboma of optic nerve (OMIM 120430), Morning glory disc anomaly (OMIM 120430), Foveal hyperplasia (OMIM 136520), Gillespie syndrome (OMIM 206700), Peters’ anomaly (OMIM 604229), Keratitis (OMIM 148190) and Optic nerve hypoplasia (OMIM 165550) [3]. Here, PAX6 is linked to coloboma.