While aniridia remains the predominant phenotype associated with PAX6 mutations [11], related ocular phenotypes including anterior segment malformations such as Peters’s anomaly [12], keratitis [13], foveal hypoplasia [14], congenital cataract [15], and optic nerve defects [16] were also shown to be associated with PAX6 deficiency. The gene discussed is PAX6; the disease is aniridia.