What Is Choroideremia?

Choroideremia is a genetic medical condition that primarily affects men and leads to a progressive loss of vision. Impaired night vision, commonly referred to as night blindness, is often the first symptom of choroideremia. Over time, this condition can lead to partial or total blindness. There is no standard treatment available for this medical condition, and management may include the use of visual devices, counseling, and community help with job placement or financial assistance. Any specific questions or concerns about choroideremia on an individual basis should be discussed with a doctor or other medical professional.

The gene that is thought to be responsible for the development of choroideremia is often passed through families, although a spontaneous genetic mutation may sometimes be responsible for the development of this disorder. Males are more likely than females to be born with choroideremia, likely due to the chromosomal differences among the two genders. Mothers who carry the defective gene can transfer this gene to male children, and fathers can transfer the disorder to female children. In a smaller number of cases, a genetic mutation during the embryonic stage of development may lead to choroideremia in a child born to parents who do not possess the defective gene.

Night blindness is frequently the first noticeable symptom among those with choroideremia, and this symptom may develop in early childhood. As the disease progresses, additional symptoms may include a loss of peripheral vision, a condition commonly referred to as tunnel vision. As this is a progressive disorder, partial or total blindness may occur by late adulthood. There are no medical treatments available that can delay the progression of this visual disorder, so management primarily relies on helping the patient learn to cope with increased disability on both a physical and emotional level.

In the earlier stages of the disease, supportive devices such as glasses may help to improve vision. Electronic or computerized devices may be helpful for some patients with this disorder. Gene therapy is being investigated, and there is hope in the medical community that effective treatment options will one day be available. Until then, counseling may be a beneficial tool in helping the patient as well as family members or caregivers learn to cope with the increasing disability caused by loss of eyesight. In many cases, community support is available to assist with job placement or financial compensation for those with advanced vision problems or blindness.