Lowe syndrome

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.

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.

History and etymology

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

Share article

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
  • Cerebrooculorenal syndrome
  • Lowe oculocerebrorenal syndrome
  • Oculocerebrorenal syndrome
  • phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency

Support Radiopaedia and see fewer ads

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.