Oculocerebrorenal syndrome

Oculocerebrorenal syndrome (also called Lowe Syndrome) is a rare genetic disorder in humans. It affects the eyes, the brain and the kidneys. It is also known as Oculocerebrorenal syndrome. People with lowe syndrome are born with cataracts, that is the lenses of their eyes are not totally clear. Many people with the syndrome develop kidney problems at an early age. The brain develops differently, the development of the child happens slower. Such children may often have learning difficulties. Epilepsy can also occur.

The disorder is caused by a gene defect on the X-chromosome. As a result, much more boys are affected than girls. The syndrome is named after Dr. Charles Lowe, who first described it in 1952. Its occurrence is about one case in half a million live births.

Oculocerebrorenal Syndrome Media

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  structural formula of potassium citrate

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  Image taken with Canon Powershot S3 on Nikon TS100 inverted microscope by the author using phase contrast microscopy.

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  X-link recessive inheritance