EP447: Family history helps solve the case: Prenatal case report of Lowe syndrome

Abstract

Oculocerebrorenal syndrome (Lowe Syndrome), is a rare X-linked disorder affecting 1/500,000 males, that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by a variant in the OCRL gene. OCRL loss of function variants result in decreased enzyme levels and an accumulation of the enzyme’s substrate, phosphatidylinositol (4,5) biphosphate (PiP2), and cytoskeletal defects.