Ocular Cystinosis Symptoms & Treatment

Cystinosis is a rare genetic disease/disorder. Mutations in CTNS genes are responsible for cystinosis. The CTNS gene makes cystinosin. Cystinosin mainly transmits, or carries, the amino acid cystine out of the lysosomes.

In individuals with cystinosis, the cystinosin transmission procedure does not work appropriately. Due to this reason, cystine accumulates inside lysosomes. As time progresses, the cystine forms into crystals.

Accumulation of Cystine crystals may take place in cells in different organs of the body, including the eyes. The cornea is a transparent avascular part of the eye that may be impacted the most.

Corneal crystals generally occur as pointed and needle-shaped, resembling or look like shards of glass.

The cornea has numerous layers, and cystine crystals can accumulate throughout these layers. Left untreatment, cystine crystals may accumulate in all ocular tissues and may cause mild to severe complications.

Eye Symptoms Caused by Corneal Cystine Crystals:
Initially, as cystine crystals begin to accumulate in the cornea, individuals may not notice any cystinosis eye symptoms. But moderately, crystal accumulation progresses deeper into the cornea, impacting all the layers, and individuals may begin to feel some discomfort.

Evy symptoms may include:

• Photophobia (light sensitivity)
• Impaired vision
• Squinting
• Trouble with daily activities

Light sensitivity and other symptoms can be uneasy and even intolerable. These ocular cystinosis symptoms can also affect the potential to carry out daily activities.

Treatment of Corneal Cystine Crystals:
As per available data, cystine-depleting oral medications do not scale down the accumulation of cystine crystals in the cornea. These medications are delivered to organs in the body through the bloodstream. But these medications cannot reach the cornea since it does not have needed blood vessels. In absence of proper ocular cystinosis treatment, more and more crystals will develop in the cornea and progress deeper into the all layers of the cornea.

Fortunately, Daily treatment with Cysteamine Ophthalmic solution is the only option to deplete the accumulation of corneal cystine crystals and scale down eye symptoms caused by cystinosis. This ophthalmic solution is manufactured by Recordati Rare Disease. This can be accessed through Ikris Pharma Network (IPN)  for patients in India, Pakistan, Nepal, Sri Lanka, and certain other countries.