- 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.
|
