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Choroideremia

What is Choroideremia?

Choroideremia is an inherited condition that causes progressive vision loss. It is far more common in men than in women. The condition causes tissues in the back of the eye, namely the retina, photoreceptors, and choroid (a network of blood vessels that lies between the retina and the white of the eye), to degenerate over time. Night blindness is usually the first symptom, followed by a loss of peripheral vision. These symptoms typically develop before the age of 20, although the rate of degeneration varies greatly from person to person, even among members of the same family. Eventually the condition affects a person's central vision (what one sees when looking straight ahead). This usually does not begin until one's 40s or 50s, and may occur even later in some individuals. Complications such as retinal detachment or cataracts may also occur in individuals with choroideremia.

Choroideremia does not affect any other system of the body.

How common is Choroideremia?

An estimated 1 in 50,000 people have choroideremia. The overwhelming majority of people affected by choroideremia are male.

How is Choroideremia treated?

Treatments for choroideremia largely involve improving the person's nutrition and helping the person cope with visual impairment. Fresh fruits and vegetables, an antioxidant supplement, and omega-3 fatty acids (provided either through supplements or foods such as fish) are often recommended by a physician. Treatments for vision loss are similar to those recommended for any visually-impaired person. An optometrist or other low-vision specialist may help the individual make the most of his/her remaining vision. Counseling may also be helpful to cope with the emotional effects of living with decreased vision. For those with retinal detachment or cataract, surgery may be necessary.

What is the prognosis for a person with Choroideremia?

Choroideremia does not affect a person's lifespan. People may live long, productive lives with choroideremia, albeit with progressive visual impairment.

Resources

Choroideremia Research Foundation

An all-volunteer non-profit organization for people with choroideremia, their families, and others, which promotes choroideremia research and a greater understanding of the condition.

23 East Brundreth St.
Springfield, MA 01109

Foundation Fighting Blindness

A non-profit devoted to promoting and funding research on the causes of blindness, including retinitis pigmentosa, macular degeneration, and rarer conditions such as choroideremia.

11435 Cronhill Drive
Owings Mills, MD 21117
Phone: (800) 683-5555

Other names for Choroideremia

  • Choroidal Sclerosis
  • TCD
  • CHM
  • Progressive Tapetochoroidal Dystrophy

Counsyl has renamed its products effective July 19, 2017. The Family Prep Screen is now the Foresight Carrier Screen.

The new names now appear on all communications from Counsyl. If you have any questions, please contact Counsyl directly.

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