Chorioideremia

Choroideremia: causes, symptoms and treatment

Choroideremia is a rare hereditary eye disease that leads to progressive atrophy of the choroid. This condition can lead to vision loss and blindness. Choroideremia affects predominantly men and is inherited according to the principle of recessive genetic inheritance.

Causes of choroideremia

Choroideremia is caused by a mutation in the CHM (chromosome Xq21.2) gene, which encodes a membrane transport regulator protein. This protein is necessary for the normal functioning of retinal cells, which are essential for vision. Mutation of this gene leads to disruption of melanin transport, which causes progressive atrophy of the choroid and loss of vision.

Symptoms of choroideremia

Choroideremia manifests itself as a gradual loss of vision, starting from the peripheral zone and moving towards the center of the eye. Patients with choroideremia may also have impaired color vision and night blindness. At the beginning of the disease, symptoms may not be noticeable, but over time they intensify and can lead to complete loss of vision.

Treatment of choroideremia

There is currently no treatment that can completely cure choroideremia. However, there are treatments that can slow the progression of the disease and help preserve vision. Some of these include the use of special glasses, contact lenses or magnifying devices, as well as regular follow-up with an ophthalmologist.

New treatments for choroideremia, such as gene therapy, are also being explored. Gene therapy may help replace the missing protein that causes choroideremia and prevent further progression of the disease.

In conclusion, choroideremia is a rare eye disease that can lead to vision loss and blindness. Although there is currently no treatment that can completely cure choroideremia, there are treatments that can slow the progression of the disease and help preserve vision. If you are at risk of developing choroideremia, contact your ophthalmologist for additional advice and monitoring.

Choroideiderma is a rare disease that is characterized by loss of retinal blood vessels and progressive atrophy of the inner lining of the eye. The name chorioresia originated in the late 19th century from the Latin word “chorioidea,” which means “blood vessels of the retina.” Translated from Greek, "iderema" means "absence."

The disease is manifested by symptoms of progressive weakening of vision, including visual acuity, as well as partial loss of photosensitivity. It is caused by dysfunction of the inner lining of the eyeball, through which blood flows in the capillaries. In addition, chorioderemia may be accompanied by the formation of fibrous scars on the retina, which makes it difficult to recognize objects at a distance.

The main causes of choriodera are associated with metabolic disorders in the choroid, autoimmune disorders, low blood pressure, diabetes and heredity. Trauma and infection can also trigger the development of the disease, however, they are not its main trigger.