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Lowe syndrome

Dr Rohit Sharma and Radswiki et al.

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.

It is an extremely rare, pan-ethnic disease, with an 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 behavioral problems prevail and renal complications arise in adolescence.

Low syndrome has an X-linked pattern of inheritance. The OCRL gene is implicated, leading to a phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency.

Initially described by C U Lowe et al. in 1952 4

Article information

rID: 14950
Section: Syndromes
Synonyms or Alternate Spellings:
  • Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency
  • Oculocerebrorenal syndrome of Lowe
  • Oculocerebrorenal syndrome of Lowe (OCRL)
  • Oculo-cerebro-renal syndrome of Lowe (OCRL)
  • Oculo-cerebro-renal syndrome
  • Oculo-cerebro-renal dystrophy
  • Cerebrooculorenal syndrome
  • Lowe oculocerebrorenal syndrome
  • Oculocerebrorenal syndrome

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