Here, we describe a patient carrying a homozygous splice variant in NDUFS6 leading to a milder phenotype than previously reported patients with NDUFS6 variants: Our patient presented with a pronounced peripheral axonal neuropathy accompanied by involvement of small sensory nerve fibers, optic atrophy and borderline intellectual disability, however brain MRI was normal. Here, NDUFS6 is linked to hereditary optic atrophy.