Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to papillorenal syndrome and hypertelorism. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include colon and eye, and related phenotypes are abnormality of retinal pigmentation and strabismus