Corneal manifestation in patients with infantile nephropathic cystinosis

Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes a dysfunction of cystinosin, a protein which transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ systems. While renal complications predominate the early forms of cystinosis, corneal crystal accumulation will inevitably manifest in all patients. Main symptoms are photophobia along with glare sensitivity and blepharospasm. In addition, corneal crystal accumulation can cause other complications such as recurrent corneal erosions, punctate or filamentary kera…