Description

Cystine deposition in the eye of a patient with cystinosis may lead to a number of findings.


Patient selection: cystinosis

 

Clinical presentation: photophobia

 

Findings on ophthalmologic exam:

(1) band keratopathy

(2) cystine deposits in the cornea seen on slit lamp exam

 

The cystine deposits can be mobilized following treatment with cysteamine eye drops.

 

Late complications:

(1) corneal ulcerations

(2) peripheral corneal neovascularization

(3) posterior synechiae

(4) pigmentary retinopathy with degeneration of photoreceptors

(5) impaired vision

 


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