This condition is a rare, inheritable, progressive metabolic disease affecting the eyes, brain and kidneys. Corneal opacity due to overgrowth of scar tissue can occur in about half the patients, and may cause blindness if it covers the central portion of the cornea. Renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, is treatable with phosphate and bicarbonate replacement therapy. Learning ability varies from mild to normal or severe difficulties. Behavioural problems are also common.
Seizures affect about half of the children diagnosed with the syndrome.
There is no specific treatment available although medications may be helpful for the neurological and behavioural abnormalities. Inheritance patterns X-linked. The gene causing Lowe syndrome has been identified and over 70 different alterations in the gene have been described in patients. Demonstrating loss of function of the enzyme is the most straightforward and definitive laboratory test for Lowe syndrome. Direct detection of the carrier state can be accomplished in some families by testing the DNA itself.