The clinical spectrum linked to AARS2 mutations includes a rare case with retinopathy and optic atrophy in an 18-month-old Korean boy with bilateral optic atrophy, peripheral retinal bone spicule pigmentation, absent patellar reflexes, and demyelinating polyneuropathy, together with cerebellar and supratentorial white matter changes with areas of restricted diffusion, and dorsal column signal abnormalities on MRI [89]. This evidence concerns the gene AARS2 and Leber hereditary optic neuropathy.