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Cystinosis is a rare genetic disease that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene. In its severest form, cystinosis causes kidney failure before the age of 10. Treatment is limited to cysteamine, a cystine-depleting drug, but this only slows the progression of the disease. The toxic...
Cystinosis is a metabolic disease characterized by accumulation of cysteine crystals in various tissues including cornea. Cystinosis patients begin showing ocular symptoms at the age of 16 months and without appropriate treatment, the entire peripheral stroma and endothelium can be packed with crystals. Eventually complications such as...