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. This evidence concerns the gene PAX6 and aniridia-cerebellar ataxia-intellectual disability syndrome.