Specialist Web Sites

 Lowe Syndrome Association

A US based international support organisation maintaining an excellent reference site on Lowe Syndrome.
 Lowe Syndrome Trust

An energetic UK Charity providing support and information to families, individuals and professionals affected by Lowe Syndrome
 NICE Evidence Search

Reviewed research and guidance from NICE

Lowe Syndrome

Wikipedia Extract : View Full Article

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria.

Lowe syndrome can be considered a cause of Fanconi syndrome

Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.

Boys with Lowe syndrome are born with cataracts in both eyes, glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth.

While not present at birth, many affected boys develop kidney problems at about one year of age.

It was first described in 1952 by Charles Lowe and colleagues at the Massachusetts General Hospital in Boston.