OCRL and oculocerebrorenal syndrome: Inactivating mutations in OCRL have been associated with Dent disease 2 (MIM #300555), a disorder characterized by PT dysfunction, kidney stones, and progressive kidney failure, and with the oculocerebrorenal syndrome of Lowe (MIM #309000), which displays, in addition to the PT dysfunction and kidney failure, systemic manifestations such as congenital cataracts, cognitive disability, and hypotonia.2, 3, 4 Current treatments for Dent disease 2 and Lowe syndrome are only supportive.