Lowe Syndrome: Understanding Oculocerebrorenal Syndrome

Lowe syndrome--also known as Lowe disease, oculocerebrorenal syndrome and oculocerebrorenal dystrophy----is a rare genetic disorder that is characterized by mental and physical retardation.

History

• Dr. Charles Lowe and other physicians at the Massachusetts General Hospital in Boston in 1952 first described the condition, which was later found to be related to the Fanconi syndrome of the kidney. Lowe, a pediatrician, was the senior member of the group.

Significance

• According to the Lowe Syndrome Association, 1 to 10 out of every one million people suffer from Lowe syndrome in the United Sates

Major Symptoms

• The symptoms of Lowe syndrome include congenital cataracts, infantile glaucoma, hypotonia (low muscle tone), mental retardation and kidney disease.

Other Symptoms

• Other signs and symptoms of Lowe syndrome include seizures, behavioral problems, small stature, dental cysts and skin cysts.

Treatment

• There is no cure for Lowe syndrome. Treatment is aimed at relieving the problems caused by cataracts, kidney failure and a dysfunctional nervous system.

Prognosis

• People with Lowe syndrome usually don't live more than 40 years. Death occurs primarily due to complications arising from respiratory problems and seizures.