|Classification and external resources|
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 it 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 (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. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem, known as Fanconi-type renal tubular dysfunction, can also be seen in other diseases and syndromes.
This syndrome is caused by mutations in the OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain. This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.
It was first described in 1952 by Charles Lowe and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.
It is named for Charles Upton Lowe (August 24, 1921–February 9, 2012 ).
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- Lowe CU, Terrey M, MacLachlan EA; Terrey; MacLachlan (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children 83 (2): 164–84. PMID 14884753.
- synd/3512 at Who Named It?
- Lowe Syndrome Association official website
- U.K. Lowe Syndrome Trust
- GeneReview/NIH/UW entry on Lowe syndrome