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Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia , mental retardation, proximal tubular acidosis, aminoaciduria , phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases.
Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.
Because it is an X-linked recessive condition, the disease develops only in boys, while girls are carriers. It has an estimated prevalence of 1 in 500,000 people.
Boys with Lowe syndrome are born with cataract in both eyes (the hallmark of the disease).
Glaucoma is present in about 50% of the patients 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 is named for Charles Upton Lowe (1921-2012 ).