Lowe Syndrome (Oculo cerebro renal syndrome – OCRL) is a rare, metabolic, multi-system disorder affecting the eyes, nervous system and kidney. Bilateral cataracts and hypotonia (low muscle tone) are present at birth. Proximal renal tubulopathy (Fanconi type) becomes evident as well. Ocular complications such as glaucoma may occur soon after. Psychomotor developmental delays, retardation, seizures and behavioral problems may also occur.

Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease.

For more information about Lowe Syndrome, visit WWW.GENETESTS.ORG – click on “GENE REVIEWS” and enter  “LOWE SYNDROME”.