Frequently Asked Questions about Lowe Syndrome
What are the common features of Lowe Syndrome?
- Cataracts in both eyes, found at birth or shortly after
- Glaucoma (in about half the cases)
- Poor muscle tone and delayed motor development
- Mental retardation, ranging from borderline to severe
- Seizures (in about half the cases)
- Severe behavior problems (in some cases)
- Kidney involvement ("Leaky" kidneys, or renal tubular acidosis)
- Short stature
- Tendency to develop rickets, bone fractures, scoliosis and joint problems
- Expected life span of about 30-40 years if no complications.
What are boys with LS like?
Generally, they are affectionate and sociable, love music, and have a great sense of humor.
How is LS treated?
There is no cure, but many of the symptoms can be effectively treated through medication,
surgery, physical and occupational therapies, and special education.
What about research?
In 1992 the gene that causes LS was found. In 1995 researchers discovered that the gene defect causes an enzyme deficiency. Researchers are continuing to investigate the function of the gene and the complicated biochemistry and cellular mechanisms of LS. Other areas that researchers have investigated in recent years include behavior problems and clinical care.
Can LS be prevented?
In families in which a case of LS has occurred, testing to determine carrier status of at-risk females can be done. Various family planning options are available, including prenatal testing. Families should consult with a geneticist to learn more about their options