What is choroideremia?
Choroideremia is a condition characterized by progressive vision loss which ultimately leads to blindness. It mainly affects males, whereas female carriers may have mild symptoms without loss of vision.
Choroideremia is characterized by broad loss of all retinal layers in the eyes, typically beginning during childhood. The retina is the light sensitive, inner layer of the eye consisting of many nerve-containing layers. A layer of single pigmented cells is the layer outside of the retina, followed by the choroid – which contains small blood vessels.
In choroideremia, the degeneration of those blood vessels of the choroid is followed by damage to the retina, which often leads to loss of peripheral vision that can progress to eventual blindness.
What are the symptoms of choroideremia?
- Night blindness
- Tunnel Vision
- Impaired visual acuity
What causes choroideremia?
Choroideremia can be caused by many different mutations in the CHM gene. The CHM gene encodes REP1 (RAB escort protein 1), a protein that takes part in targetomg vesicles (small sacs of substances) in and out of cells.
Choroideremia is an X-linked recessive genetic condition, which is why it mainly affects males.
How is choroideremia diagnosed?
Typically, a doctor will perform tests that examine the patient’s visual field suspected of having choroideremia and will look inside the eye for degeneration of the retina.
Genetic testing may also be deployed.
What are the treatments for choroideremia?
The symptoms of choroideremia can be treated but the disease itself cannot yet be cured.
Until a treatment is discovered, help is available through low-vision aids, including optical, electronic, and computer-based devices.
Where can I find out more about choroideremia?