AFG3L2 and Optic neuropathy: The genetic analysis demonstrated that the patient harbored a heterozygous missense variant in AFG3L2 Chr18(GRCh37):g.12356821G>A NM_006796.3: c.1036C>T, p.(Leu346Phe) [6], leading to the associated diagnosis of AFG3-related optic neuropathy.