A previous study demonstrated the pathogenic role of novel heterozygous mutation in AFG3L2 as a relevant cause of both pure and syndromic optic neuropathies in OPA1-negative dominant optic atrophy (DOA) in families or sporadic cases, presenting clinical features nearly indistinguishable from OPA1-related DOA [6], typically characterized by infantile onset and slow progressive bilateral painless central visual loss and pale optic discs usually in the temporal sector as expression of the prevalent papillomacular bundle damage [7, 8]. This evidence concerns the gene AFG3L2 and Optic neuropathy.