Choroideremia: Towards a Therapy

PurposeTo review what progress has been made towards the application of ocular gene therapy to prevent progressive vision loss in patients affected by choroideremia.DesignA Perspective based on the collective opinions of researchers and clinicians actively engaged in vision research on choroideremia and a review of current literature.MethodsResearchers from Europe, Canada, Australia, and the United States were convened to the first International Choroideremia Research Symposium held in Sommières, France in September 2011. Attendees shared their collective understanding of the pathophysiology of choroideremia and current trends in the development of treatments, with an emphasis on the potential of gene therapy as an achievable approach. Supplemental perspectives are provided along with an update of progress made since the meeting.ResultsThe complexity of treating a retinal disease such as choroideremia that affects multiple tissue layers has been brought to light. The genetic basis of choroideremia must be thoroughly deciphered and appropriate clinical tests selected to follow disease progression and evaluate the efficiency of treatments.ConclusionsWhereas the time frame for the development of therapies for some retinal dystrophies may be in the years hence, gene therapy trials for choroideremia have started in the United Kingdom and results are pending. These first trials may help resolve the remaining issues associated with the treatment of this disease.