Article
Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.
Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2023
Kruse Franziska, Keidel Leonie Franziska, Priglinger Siegfried, Luft Nikolaus, Priglinger Claudia
Abstract excerpt
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ systems. While renal complications predominate in the early forms of cystinosis, corneal crystal accumulation will inevitably manifest in all patients. The main...
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