What is Choroideremia?

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Choroideremia is a  genetic condition that causes progressive loss of vision due to degeneration of the retina and the network of blood vessels behind the retina called the choroid. Night blindness is the most common first symptom. As the disease progresses, there is loss of peripheral vision (tunnel vision) and later a loss of central vision. It is estimated that 1 in 50,000 to 100,000 people has Choroideremia, the condition occurs almost exclusively in males


Choroideremia is a progressing eye disease, but the rate at which it advances varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in their late adulthood.


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Normal vision vs. Choroideremia 


Symptoms of Choroideremia are often noticed about the time a boy enters elementary school. In families where the disease is known to be inherited, early testing can be done. Choroideremia is a gender-linked condition, caused by different  mutations on the Rab escort protein-1 gene on the X-chromosome. Because males only have one X-chromosome, they are more likely to develop this disease than females. 


Other inherited diseases share some of the clinical symptoms of Choroideremia. In the early stages Choroideremia is most commonly confused with Retinitis Pigmentosa, since both have symptoms of night blindness and tunnel vision. The eye disease most similar to Choroideremia is Gyrate-Atrophy.


What are the symptoms of Choroideremia?

Symptoms of Choroideremia include: 
- in the initial stage, difficulty in night vision 
- decreased peripheral vision 
- tunnel vision


What to expect from Choroideremia?

There is no cure for Choroideremia. However, research is continually being carried out to determine treatment options. It is important to have your eyes monitored regularly for any changes or complications. 


More information about Choroideremia

There is extensive information available about Choroideremia. The information included is intended to inform you about the basics of this eye condition, and is not intended as a replacement for information from your physician or eye specialist. Information regarding assistive devices that can help you if you have been diagnosed with Choroideremia is included. Our recommendations can be found under Tools and Resources.

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