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.