Choroideremia is a rare genetic disorder that primarily affects the eyes. It is estimated to have a prevalence of approximately 1 in 50,000 individuals. This condition predominantly affects males, as it is inherited in an X-linked recessive manner.
Choroideremia is characterized by the progressive degeneration of the choroid, retina, and retinal pigment epithelium in the eye. Symptoms typically appear in childhood or adolescence and gradually worsen over time. Initial signs may include night blindness and a narrowing field of vision, which can progress to complete blindness in severe cases.
While Choroideremia is considered a rare disorder, it is important to note that prevalence rates may vary across different populations. Genetic testing and counseling are crucial for individuals with a family history of the condition, as early diagnosis can aid in managing symptoms and providing appropriate support.
Ongoing research and advancements in gene therapy offer hope for potential treatments and interventions for Choroideremia. Clinical trials are underway to explore the effectiveness of gene replacement therapy in slowing down or halting the progression of this condition.
by Diseasemaps