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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.