Choroideremia

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.

Discover our visual aids for Choroideremia.

Normal vision vs. Choroideremia

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.

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.

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.

Living with Choroideremia

Hearing that your sight is affected by Choroideremia may turn your world upside down. When the initial emotions subside, you may be comforted by the knowledge that you are not alone. There are more people in your situation, some that have also just been diagnosed and some that have been living with Choroideremia for years.

Many people with Choroideremia continue to do the activities they always did. If the condition has progressed, you will often have some residual vision and with the use of specific devices to help you, you should still be able to do the things you love. If you experience low vision as a result of Choroideremia, there are low vision devices that can assist you with those tasks that you have difficulty with. These devices will assist you with various visual tasks and will help you in continuing to lead an independent and full life.

Tools and Resources for Choroideremia

There is extensive literature available on Choroideremia. The internet provides a wealth of information and most countries have one or more associations or support groups for people affected by Choroideremia. Our recommendations:

Retina International

Foundation Fighting Blindness

Website
Facebook
Twitter: @fightblindness

Phone: 800 683-5551

Choroideremia Research Foundation

There are many devices that can assist you in a variety of daily tasks if you have Choroideremia. Below is a short summary of some of these devices. For more information we suggest you browse through our product assortment or use our easy Help Me Choose assistant to search and filter based on your wishes.