We report here 4 individuals from 3 distinct families originating from Algeria with the same homozygous intronic variation in the SLC5A6 gene and very similar manifestations in all patients, associating mixed severe and progressive sensory motor axonal and demyelinating neuropathy, optic atrophy and severe cyclic vomiting. Here, SLC5A6 is linked to Leber hereditary optic neuropathy.