Distinct phenotypes described in association with PAX6 mutations include Peters anomaly and other anterior segment dysgeneses (Prokudin et al. 2014), coloboma and microphthalmia (Williamson and FitzPatrick 2014), optic nerve anomalies (Azuma et al. 2003; Nallathambi et al. 2006), ectopia pupillae and nystagmus (Hanson et al. 1999). Commonly seen are the non-iris features of classical aniridia, either in isolation or combination, namely cataract, foveal hypoplasia, glaucoma and keratopathy (Sale et al. 2002; Hever et al. 2006). Here, PAX6 is linked to coloboma.