OCULOCEREBRORENAL SYNDROME

Course overview

THE OCULOCEREBRORENAL SYNDROME, ALSO KNOWN AS LOWE SYNDROME, WAS FIRST DESCRIBED BY LOWE ET AL. IN 1952. IT IS A RARE, X-LINKED RECESSIVE MULTISYSTEM DISORDER THAT CLASSICALLY PRESENTS WITH A TRIAD OF CONGENITAL CATARACTS, RENAL FAILURE, AND INTELLECTUAL DELAY. THE CAUSATIVE OCRL GENE ENCODES AN ENZYME INVOLVED IN A NUMBER OF INTRACELLULAR PROCESSES. RESEARCHERS HAVE ELUCIDATED A BROAD SPECTRUM OF PHENOTYPIC FEATURES LINKED TO MUTATIONS IN OCRL. THIS ACTIVITY REVIEWS THE EPIDEMIOLOGY, CLINICAL FEATURES, AND MANAGEMENT OF OCULOCEREBRORENAL SYNDROME. ADDITIONALLY, IT HIGHLIGHTS THE IMPORTANCE OF AN INTERPROFESSIONAL TEAM IN CARING FOR PATIENTS WITH THIS DISORDER.