Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population of approximately 1 in 500,000.
Clinical presentation
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 behavioral problems prevail and renal complications arise in adolescence.
Pathology
Low syndrome has an X-linked pattern of inheritance. The OCRL gene is implicated, leading to a phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency.
History and etymology
Initially described by C U Lowe et al. in 1952
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