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What Causes Cystinosis?

Cystinosis is an inherited disorder that is found in some families. Because of the way it is inherited, it is called a recessive genetic disease. When 2 parents with the gene have a child together, there is a 1 in 4 chance that the child will have cystinosis.1,2

Recessive Genetic Disease Recessive Gene

The cystinosis gene has a mutation that prevents cystine from being transported out of the lysosome.2 This can result in cystine buildup and crystal formation in the cells of various body organs.3

References: 1. Cystinosis Research Network Web site. Cystinosis symptoms & treatment. Available at: http://www.cystinosis.org/symptoms-treatments. Accessed March 13, 2013. 2. Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71:100-120. 3. Cystinosis Research Foundation Web site. About cystinosis. Available at: http://www.natalieswish.org/about-cystinosis. Accessed March 13, 2013.

Indication:

CYSTARAN is a cystine-depleting agent indicated for the treatment of corneal cystine crystal accumulation in patients with cystinosis.

Important Safety Information:

The most frequently reported ocular adverse reactions occurring in ≥10% of patients were sensitivity to light, redness, eye pain/irritation, headache, and visual field defects.