Genetic analyses revealed two heterozygous variants, in the <i>SOD1</i> (OMIM*147450) and the <i>TBK1</i> (OMIM*604834) genes respectively, and furthermore mitochondrial DNA (mtDNA) sequencing identified the homoplasmic m.14484T>C variant usually associated with Leber's Hereditary Optic Neuropathy (LHON). Here, SOD1 is linked to Leber hereditary optic neuropathy.