Accordingly, Otx2 was previously related to vertebrate brain and retinal development, and phenotypes that have been associated with heterozygous Otx2 mutations and whole deletion mutations include anophthalmia, microphthalmia and retinal dystrophy (Ragge et al., 2005; Wyatt et al., 2008). The gene discussed is OTX2; the disease is inherited retinal dystrophy.