Lowe Oculocerebrorenal Syndrome

Background and History: 

Charles Upton Lowe, an American pediatrician, reported three boys with the characteristics of this syndrome in 1952.  It is sometimes called Lowe syndrome, or oculo-cerebro-renal syndrome. 

Clinical Correlations: 

This syndrome causes problems in multiple organs.  The eyes are always affected.  Cataracts are present in 100% of affected boys and carrier females such as their mothers have changes in their lenses as well.  The lenses of the eye in males are abnormally formed from the beginning of their development some form of cataract is always present at birth.  Glaucoma occurs in about half of affected males, usually before the age of 6 years, and may be difficult to treat.  Growths called keloids are sometimes found on the conjunctiva and corneas of the eye.  A detailed examination of the lenses for 'snowflake' opacities in females can determine if they are carriers of the mutation.

Males also have serious kidney disease that leads to loss of protein and electrolytes in the first year of life.  Symptoms are frequent urination and excessive thirst.  The result in some patients is a bone disease known as rickets but it is not due lack of vitamin D as is often the case.  Many patients have developmental delays, both in mental functioning and physical growth.  Mental retardation ranging from mild to severe is a common finding.  Older children may have seizures and behavioral problems.  There may be defects in tooth formation and some have cysts in the teeth.


This is an X-linked disorder in which only males have the complete syndrome.  In the majority of cases the mother, who usually has no symptoms, is a carrier of the mutation on one of her X-chromosomes but the presence of a second, normal X-chromosome prevents the full disease.  However, most such mothers do have some 'snowflake' lens opacities which do not cause visual symptoms.  Their presence can be diagnostic for their carrier status.  Carrier mothers can expect that this syndrome will appear in half of their sons.

New mutations are responsible for about one-third of cases in males and, of course, their mothers do not usually have a risk of having more affected sons.

Diagnosis and Prognosis: 

Lifelong kidney monitoring and eye examinations are important.  Cataracts often need to be removed in early childhood to avoid permanent vision loss.  More severely affected children require supportive care and special education.  Glaucoma is a serious threat to vision as well and can only be diagnosed by an ophthalmologist.  Treatment with the usual anti-glaucoma medications alone is often not effective and surgery may be required.

Additional Information
X-linked recessive, carrier mother