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.

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

[medical citation needed] This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase.

[11] It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012)[12][13] and colleagues at the Massachusetts General Hospital in Boston.

[14] Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.