Definition:

Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol (4, 5) biphosphate 5-phosphatase, present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.