Our extended WES analysis on a familial sextet and two additional unrelated AJ families has linked a single variant VPS11: c.2536T>G (p.C846G) to a new autosomal recessive leukoencephalopathy syndrome with brain myelination defects, severe motor skill deficits, cortical blindness or optic atrophy, intellectual disability, and seizures. This evidence concerns the gene VPS11 and hereditary optic atrophy.