PAX6 and coloboma of optic nerve: PAX6 mutations are known to cause mainly Aniridia; however, other ocular anomalies, including microcornea, microphthalmia, congenital cataracts, keratitis, ocular coloboma, Peter’s anomaly, Gillespie syndrome, morning glory disc anomaly, foveal hypoplasia and optic nerve hypoplasia, have also been reported.