Herein, we assessed the presence and the homo/heteroplasmic status of the m.3460G > A LHON mutation; the co-occurrence with novel mutation m.T961delT + insC(n) within the mitochondrial encoded 12S RNA (MTRNR1) gene and the mtDNA cellular content in a family manifesting ocular neuropathy complicated by intellectual disability, migraine and epilepsy as non-ophthalmologic features. The gene discussed is MT-RNR1; the disease is Intellectual disability.