Choroideremia
Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. How rare? About 1 in 50,000. It is passed from mothers to their sons (not daughters) and we hit the jackpot - all three of our sons have been diagnosed with this disease. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.
What are the symptoms?
Choroideremia, occurs almost exclusively in males. Early on, night blindness is the most common first symptom. We noticed with our boy's that their eyes were not able to adjust in a movie theater. As the disease progresses, there is loss of peripheral vision or “tunnel vision”, and later a loss of central vision. Progression of the disease continues throughout the individual’s life, although both the rate and the degree of visual loss can vary.
Is There a Cure?
Recently, scientists discovered mutations on a gene on the X chromosome that causes choroideremia. New research based on these findings now drives the search for a treatment. Investigators are now developing a gene therapy for evaluation in animal studies. With success in an animal model, they will move the treatment into clinical studies.
What Can I Do?
