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Internal Medicine

Oculocerebrorenal syndrome of Lowe (OCRL)

Rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction.

  • Also known as Lowe syndrome
  • X-linked recessive inheritance

Presentation

Classical triad:

  1. Dense congenital bilateral cataract (hallmark feature)
  2. Severe intellectual impairment
  3. Renal tubular dysfunction with slowly progressive renal failure

Other features:

  • Postnatal growth retardation independent of kidney function
  • Areflexia
  • Nontender joint swelling
  • Subcutaneous nodules
  • Arthropathy (50% adult cases)

Complications

  • Severe glaucoma with buphthalmos requiring surgical management (50% cases)
  • Corneal scarring and keloids develop without prior trauma (25% cases)
  • Renal Fanconi syndrome

Differntial diagnosis:

  • Dent-2 disease

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