VPS11 and optic atrophy: 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.