NDUFS6 and Leber hereditary optic neuropathy: 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.