Cystinosis is a rare metabolic disease where cystine crystals accumulate inside cells, particularly in kidneys and eyes. It can lead to kidney failure and significant photophobia.
Ocular features
Crystals deposit in several eye structures.
- Shimmering corneal crystals causing glare and light sensitivity
- Possible retinal, iris, and conjunctival involvement in long-standing disease
- Reduced vision if scarring or retinopathy develops
- Often diagnosed in childhood with accompanying renal Fanconi syndrome
Management
Treatment aims to reduce cystine accumulation and protect organs.
- Systemic cysteamine therapy to slow kidney and systemic damage
- Topical cysteamine eye drops to dissolve corneal crystals and relieve photophobia
- Regular ophthalmic and nephrology follow-up
- Low-vision support if retinal changes are advanced
