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.