Lowe syndrome

Dr Aditya Shetty and Radswiki et al.

Lowe syndrome (also known as the the oculo-cerebro-renal syndrome of Lowe - OCRL) is a multi-system disorder characterised by anomalies primarily affecting the eye, the nervous system and the kidney.

Pathology

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.

Etymology

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

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Article Information

rID: 14950
Section: Syndromes
Synonyms or Alternate Spellings:
  • Oculocerebrorenal syndrome of Lowe
  • Oculocerebrorenal syndrome of Lowe (OCRL)
  • Oculo-cerebro-renal syndrome of Lowe (OCRL)
  • Oculo-cerebro-renal syndrome
  • Oculo-cerebro-renal dystrophy

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