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]. The gene discussed is AARS2; the disease is optic atrophy.