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Course: Visualizing the Problem: Ocular Manifestations of Nephropathic Cystinosis

Released: 2025-03-12

This activity is designed to advance the knowledge and competence of pediatric ophthalmologists and other interested clinicians regarding the diagnosis, management, and treatment of ocular cystinosis. Featuring clinical case examples, our two experts (a pediatric endocrinologist and a pediatric ophthalmologist) will provide an overview of cystinosis and its ocular symptoms that manifest as a deposition of cystine crystals in the cornea. The faculty will review optimal management approaches of evidence-based treatments. Cystinosis is caused by mutations in the CTNS gene that makes cystinosin. Cystinosin carries amino acid cystine out of the lysosomes and when patients lack functional cystinosin, cystine builds up inside lysosomes eventually forming into crystals causing not only ocular manifestations, but also kidney decline, small stature, muscle wasting, frequent thirst, as well as other symptoms.


Upon completion of this activity, participants should be better able to:


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