Lowe syndrome (also known as the the oculocerebrorenal syndrome of Lowe) is a multi-system disorder characterised by anomalies primarily affecting the eyes, nervous system, and kidneys.
It is an extremely rare, pan-ethnic, x-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000.
Bilateral cataracts and severe hypotonia are often present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation can be evident in childhood, while behavioural problems prevail and renal complications arise in adolescence.
History and etymology
Initially described by C U Lowe et.al in 1952 4
- 1. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1 : 16. doi:10.1186/1750-1172-1-16 - Free text at pubmed - Pubmed citation
- 2. Charnas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Adv Pediatr. 1991;38 : 75-107. - Pubmed citation
- 3. Sethi SK, Bagga A, Gulati A et-al. Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clin. Exp. Nephrol. 2008;12 (5): 358-62. doi:10.1007/s10157-008-0059-0 - Pubmed citation
- 4. Lowe CU, Terrey M, Maclachlan EA. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952;83 (2): 164-84. - Pubmed citation