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Effects of long-term cysteamine treatment in patients with cystinosis.
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body.
Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study.
To analyze the correlation between photophobia and corneal crystal density in nephropathic cystinosis using in vivo confocal microscopy (IVCM) and anterior-segment optical coherence tomography (AS-OCT).
The European Union Commission grants marketing authorization for Cystadrops 3.8mg/mL. for treatment of corneal cystine crystal deposits in adults and children from 2 years of age with cystinosis.- Recordati
Recordati announces that the European Union Commission has granted the European marketing authorization for its orphan medicinal product Cystadrops 3.8mg/mL....
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis
Objectives: To summarize available clinical evidence for cysteamine bitartrate preparations in the treatment of nephropathic cystinosis as identified through a systematic literature review (SLR).