Leber’s hereditary optic neuropathy results from a point mutation in mtDNA, most commonly m.11778 G>A, which inhibits NADH dehydrogenase activity in complex I of the mitochondrial electron transport chain, leading to a decrease in energy production by the mitochondria, and therefore optic nerve cells atrophy can occur.26 Since the mitochondrial inheritance pattern of LHON, it has a strong male preponderance (80% to 90%), and the usual age at onset is between 15 to 35 years. Here, ENSG00000254051 is linked to Leber hereditary optic neuropathy.