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The oculocerebrorenal (OCRL) syndrome of Lowe is an X linked, multisystem disorder characterised by a triad of abnormalities in the eyes, the nervous system and the renal tubules. It is caused by a mutation in the OCRL gene which encodes an inositol polyphosphate 5-phosphatase. This enzyme has been detected on vesicular structures of the endosomal system and the Golgi complex, and plays a main role in cellular metabolism. The deficiency of this enzyme impairs the maturation of polarizing epithelium in neurons and glia, renal proximal tubule and lens. Prevalence of this syndrome has been estimated as 1 in 500,000 .

Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene