Cystinosis affects males and females in equal numbers. The disorder is estimated to occur in 1 in 100,000-200,000 people in the general population.

How does cystinosis affect the body?

In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.

What does cystinosis do?

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues.