Homozygous mutations in ZNF592 have been related to CAMOS (cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities) syndrome, a rare autosomal recessive syndrome characterized by a congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities [94]. This evidence concerns the gene ZNF592 and hereditary optic atrophy.