Lowe Oculocerebrorenal Syndrome
Patient Information
Characteristics
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.
Genetics
Inheritance
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.
Pedigree
X-linked recessive, carrier mother
X-linked disorders are caused by a mutation on the X chromosome and both sexes can pass this to their children. If the mutation is in a recessive gene and carried by the mother, she usually does not have the disease since the normal X chromosome without the mutation neutralizes the mutation in the abnormal X chromosome. However, half her sons will inherit the mutation-containing X chromosome and therefore have the X-linked disease. Half the daughters will inherit the mutation-bearing X chromosome and are usuallly healthy 'carriers'.
X-linked disorders are caused by a mutation on the X chromosome and both sexes can pass this to their children. If the mutation is in a recessive gene and carried by the mother, she usually does not have the disease since the normal X chromosome without the mutation neutralizes the mutation in the abnormal X chromosome. However, half her sons will inherit the mutation-containing X chromosome and therefore have the X-linked disease. Half the daughters will inherit the mutation-bearing X chromosome and are usuallly healthy 'carriers'.
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.
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