The future can be brighter for patients with ocular symptoms of cystinosis.
Cystinosis and the Eyes
As part of an integrated approach to treating cystinosis, early intervention and management of ocular symptoms are key to treating your overall condition.
The following information will help you understand how cystinosis affects the eyes, and how you can manage ocular symptoms.
The following information will help you understand how cystinosis affects the eyes, and how you can manage ocular symptoms.
Talk to your eye care specialist about managing your symptoms early and consistently, from childhood through adulthood.
Rainbow Babies & Children's Hospital; University Hospitals Eye Institute
Cystinosis is a genetic disease that occurs when a person inherits a CTNS gene with a mutation from each parent. A healthy CTNS gene provides instructions for making a protein called cystinosin. Cystinosin is a protein that works to transport cystine from the body’s cells. But in someone with cystinosis, cystine remains in cells due to absent or defective cystinosin. The cystine inside cells builds up and begins to form crystals.
Cystine crystals accumulate in all organs of the body, with the kidneys and eyes being especially vulnerable to damage. Without treatment, cystine crystals accumulate in cells throughout the body.
A healthy cornea is essential for facilitating good vision and for keeping other parts of the eyes healthy. Cystinosis causes crystals to build up in the layers of the cornea, leading to vision problems and potential vision loss, if symptoms are not managed.
The cornea – the front, clear part of the eye – is especially affected by cystinosis. The cornea has multiple layers and is avascular, meaning it doesn’t have a blood supply. As a result, oral medicine taken for cystinosis does not reach the cornea.
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