SLC25A46 has recently been identified as a cause in heterogeneous clinical conditions, including optic atrophy, axonal peripheral neuropathy Charcot-Marie-Tooth type 2 (CMT2) [12], an optic atrophy spectrum disorder [13], Leigh syndrome [14], progressive myoclonic ataxia with optic atrophy and neuropathy [15] and lethal congenital pontocerebellar hypoplasia [16]. Here, SLC25A46 is linked to Leber hereditary optic neuropathy.