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What is Choroideremia?

Choroideremia is a genetic eye disorder that causes progressive vision loss. This eye condition is due to the degeneration of the retina and the network of blood vessels behind the retina called choroid.

Night blindness is the most common initial symptom. As the disease progresses, there is a 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 have Choroideremia, and the condition occurs almost exclusively in men.

This eye condition is a progressive eye condition, but its rate varies from person to person. However, eventually all individuals with this condition will develop blindness, usually in their late adulthood.

Other inherited eye disorders share some of the symptoms of Choroideremia. In its early stages, Choroideremia is usually confused with Retinitis Pigmentosa, as both symptoms of night blindness and tunnel vision occur. The eye disease is most similar to Gyrate Atrophy.

Being told that vision is affected can turn the world upside down. When the first emotions subside, the knowledge that one is not alone may provide support. There are many people in the same situation, some who have just been diagnosed themselves and some who have been living with Choroideremia for years.

If one experiences visual impairment as a result, there are devices available to help with tasks that people have difficulty with. These aids can provide support with tasks that require vision and can help you continue to lead a full and independent life.

Picture view without and with Choroideremia
Left: normal vision. Right: view with Choroideremia

What are the symptoms of Choroideremia?

Symptoms are often noticed when a boy starts primary school. In families where the condition is known to be hereditary, tests can be carried out in a timely manner. Choroideremia is a sex-linked condition caused by several mutations on the ‘Rab escort protein-1 gene’ on the X chromosome. Because men only have one X chromosome, they are more likely than women to develop this disease.

– Night blindness  
– Reduction in peripheral vision  
– Tunnel vision

What can one expect from Choroideremia?

There is currently no cure for choroideremia. Research is ongoing in search of treatments that can slow down or even eliminate this condition. An early diagnosis is important so that one can learn how to deal with this and how to get the most out of the residual vision.

Learn more about Choroideremia

Extensive information is available. This information is intended to inform you about the most important aspects of this eye condition and is not intended to replace the information you receive from your doctor or eye specialist.