Autosomal recessive disorders manifesting cutaneous photosensitivity, dwarfism, pigmentary retinopathy, optic atrophy, cataracts, premature aging, progressive neurological dysfunction, and joint contractures. Patients typically present between 6-12 months of age
On imaging patients have brain calcification of the basal ganglia, cerebellar dentate nuclei, cortical sulci, and subcortical white matter. They have cerebral and cerebellar hemisphere atrophy and T2 hyperintensity of the periventricular white matter, basal gangli, and cerebellar nulei.