Wikipedia Precis

This revision: 26th April 2013 .
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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 ).[3]

Useful Links

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

OMIM Reference

Clinical references on Lowe Syndrome from the OMIM database.

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