Dual allele mutations appear to be fatal since the absence of PAX6 gene expression may cause defects in brain development.4 Clinically, aniridia patients often present with iris hypoplasia, cataracts, glaucoma, corneal opacity, foveal hypoplasia, and nystagmus.3 In the present study, we demonstrate a novel PAX6 mutation in an aniridia patient. This evidence concerns the gene PAX6 and Hypoplasia of the iris.