Thus, several cases with phenotype of PEHO syndrome (Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy) and with mutated KIF1A were reported [20, 34, 35] (where ‘classic’ PEHO is severe AR disorder produced by ZNHIT3 mutations). The gene discussed is ZNHIT3; the disease is Leber hereditary optic neuropathy.