Choroideremia is a rare genetic eye disorder that primarily affects males. It is characterized by progressive degeneration of the choroid, a layer of blood vessels in the retina that nourishes the light-sensitive cells. This condition is caused by mutations in the CHM gene, which is responsible for producing a protein essential for normal functioning of the retina.
The early symptoms of choroideremia usually appear in childhood or adolescence and include night blindness and a narrowing field of vision. As the disease progresses, individuals may experience further loss of peripheral vision, leading to tunnel vision and eventually complete blindness.
Currently, there is no cure for choroideremia, but ongoing research aims to develop potential treatments. Gene therapy is being explored as a promising approach, where a healthy copy of the CHM gene is introduced into the retina to compensate for the faulty gene. This therapy has shown promising results in clinical trials, offering hope for future treatment options.
It is important for individuals with choroideremia to receive regular eye examinations and genetic counseling to better understand the condition and explore available support and management strategies.
by Diseasemaps