Ocular cystinosis

Ocular cystinosis, also called non-nephropathic cystinosis or benign cystinosis, is a rare inherited metabolic disorder that affects the eyes. It is the mildest form of cystinosis, a group of conditions caused by the buildup of an amino acid called cystine inside cells. In ocular cystinosis, cystine crystals accumulate mainly in the cornea (the clear front part of the eye), while the kidneys and other organs are typically spared. This sets it apart from the more severe infantile (nephropathic) form of cystinosis, which causes serious kidney damage early in life. People with ocular cystinosis usually develop symptoms in late childhood, adolescence, or adulthood. The hallmark sign is the presence of cystine crystals in the cornea, which can cause light sensitivity (photophobia), eye irritation, tearing, and sometimes a feeling of grittiness in the eyes. Vision may be mildly affected over time, but many individuals maintain good overall eyesight. Because the disease is limited to the eyes, people with this form generally have a normal lifespan and do not develop the kidney failure or growth problems seen in more severe types of cystinosis. Treatment focuses on managing eye symptoms. Cysteamine eye drops (brand name Cystaran or Cystadrops) are the main therapy and work by dissolving the cystine crystals in the cornea. These drops need to be used regularly throughout the day. Lubricating eye drops and sunglasses can also help with comfort. There is currently no cure, but with consistent treatment, symptoms can be well controlled.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.How severe are the cystine crystal deposits in my (or my child's) corneas right now?,How often do the cysteamine eye drops need to be used, and are there tips to make the schedule easier?,Do we need to test for kidney or other organ involvement to rule out more severe forms of cystinosis?,What genetic testing should family members consider, especially if we plan to have more children?,Are there any newer or longer-acting eye drop formulations available or in clinical trials?,How often should follow-up eye exams be scheduled?,What should I watch for that would indicate the condition is getting worse?

Common questions about Ocular cystinosis

Related conditions

Other rare diseases commonly researched alongside Ocular cystinosis.

• Infantile nephropathic cystinosis→