Regarding the extraocular involvement, the phenotypic spectrum of OTX2 mutations included structural and functional abnormalities of the pituitary gland, global developmental delay, autism, attention-deficit disorder, feeding difficulties, seizures and microcephaly other structural brain anomalies, affecting the corpus callosum and hippocampus with no clear genotype-phenotype correlations [6–9]. This evidence concerns the gene OTX2 and microcephaly.