Cystinosis

Cystinosis
  • Autosomal recessive metabolic disorder that causes cystine crystal deposition in multiple organs.

Clinical Features

  • Symptoms:
    • Glare, phophobia and mild decrease in vision as the deposits may accumulate progressively throughout the cornea and involve visual axis
    • Decreased corneal sensation
  • Signs:
    • Needle shaped, refractile, polychromatic corneal crystal deposits
    • May involve conjunctiva and iris
    • Lenticular or retinal deposits may occur in a more severe case

Management

  • Treat the systemic disease.
  • Topical cysteamine drops may decrease the crystals accumulation rate.
  • Penetrating keratoplasty may be considered in severe cases.