This a 12 month study being run by Professor MacLaren’s team
Choroideremia is the result of a genetic mutation in the X chromosome. This is why the disease affects men and women differently. Women have two X-chromosomes and so one can compensate for the other to some extent. Men however only have one X-chromosome and cannot compensate when it is defective. In choroideremia the gene has an important function in the retina, which is like a camera film that lines the back of the eye.
Purpose of the Study:
The main purpose of this study is to assess/measure how choroideremia develops over a period of 12 months. This information will be used to understand how quickly choroideremia progresses and help advance understanding of the ways that disease progress can be measured.
Eligible participants must: be 18 years and older, be male, have a clinical diagnosis of Choroideremia and be in good general health.