Choroideremia
Choroideremia
Choroideremia (pronounced: koh-roy-deh-ree-mee-uh) is a rare genetic disorder that primarily affects males. It is characterized by progressive vision loss, ultimately leading to complete blindness. The condition is named after the choroid, the area between the retina and the sclera, which is primarily affected in this disorder.
Etymology
The term "Choroideremia" is derived from the Greek words "chorion" meaning skin and "haima" meaning blood, referring to the choroid layer of the eye which resembles these tissues in color and texture. The suffix "-eremia" is derived from the Greek word "haima" meaning blood, indicating a condition related to the blood or circulatory system. In this case, it refers to the degeneration of the choroid and retina.
Symptoms
The primary symptom of Choroideremia is a gradual loss of vision. This begins with night blindness in early childhood, followed by peripheral vision loss (tunnel vision) in the late teens or early twenties. Central vision is usually maintained until later in life. Other symptoms may include mild to moderate hearing loss and, in some cases, obesity.
Causes
Choroideremia is caused by mutations in the CHM gene. This gene provides instructions for making a protein called REP-1, which is involved in transporting certain molecules inside cells. Mutations in the CHM gene disrupt the production of REP-1, leading to the death of cells in the choroid and retina.
Diagnosis
Diagnosis of Choroideremia is based on a clinical examination of the eye, including a detailed examination of the retina. Genetic testing can confirm the diagnosis by identifying a mutation in the CHM gene.
Treatment
There is currently no cure for Choroideremia. Treatment is focused on managing symptoms and slowing the progression of the disease. This may include the use of low-vision aids, orientation and mobility training, and counseling to help individuals cope with their vision loss.
See also
External links
- Medical encyclopedia article on Choroideremia
- Wikipedia's article - Choroideremia
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