Additionally, the phenotypic spectrum of SLC25A46 expanded, including the severe infantile Leigh-like encephalopathy [265], but also severe congenital ponto-cerebellar hypoplasia [269,270,271] and more recently optic atrophy and Parkinsonism [272], this latter case resembling some specific OPA1 mutations [73]. This evidence concerns the gene SLC25A46 and optic atrophy.