What is Choroideremia?
Choroideremia (CHM), an inherited eye condition that occurs almost exclusively in males, causes progressive loss of vision over a person’s lifetime. While the rate and degree of vision loss varies amongst individuals, the most common first symptom is night blindness, often detected during childhood.
What are the symptoms of CHM?
As vision changes over time, the peripheral vision is affected, ultimately resulting in “tunnel vision”, a very narrow field of vision. Eventually the individual experiences a loss of central vision.
How quickly does vision fade?
Vision loss associated with CHM varies amongst individuals and may continue throughout one’s lifetime.
Is there a genetic test available?
Yes. The John and Marcia Carver Nonprofit Genetic Testing Laboratory has available a clinical nonprofit test for Choroideremia. See a list of the genetic tests we offer
How can I order a genetic test for CHM?
To order this test, start by following this link.
Is there a clinical trial available for this particular condition?
Research regarding the eye and blinding eye diseases is ongoing and the answer to this question might change on any given day. Thankfully there are resources available today to assist anyone interested in monitoring progress.
Where can I learn more about Choroideremia?
GeneTests is a publicly funded web site that provides medical genetics information. While primarily targeted to physicians, researchers and other healthcare providers, patients and their families interested in a reliable resource for their own research will find this up-to-date comprehensive web site an invaluable tool. See Choroideremia as found on GeneTests.org
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If you have any specific questions about Choroideremia, please consult your personal physician.
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