Choroideremia (CHM) is a rare inherited x-linked disorder whose symptoms often mirror retinitis pigmentosa (RP). Symptoms include:
- Peripheral vision loss, leading to tunnel vision
- Sensitivity to glare, and
- Loss of depth and color perception
Because it is so rare (6,000 US cases), it is estimated that up to 70% of individuals with choroideremia are initially diagnosed with RP. Presentation of symptoms, as well as ERG and OCT findings for the diseases are similar, therefore, the only way to conclusively diagnose either condition is with genetic testing.
Although there are currently no cures for either RP or CHM, once the cause of vision loss is identified, promising clinical trial options may be available for patients with either condition which could potentially slow progression or preserve remaining eyesight.
The Choroideremia Research Foundation (CRF) is an international nonprofit organization that supports CHM patients, family members and the medical and scientific communities. For clinicians and researchers, we provide:
- Research grant funding
- Updates on the latest scientific findings
- Scientific symposia
- Professional networking opportunities
- Genetic testing information
- Info on CHM cell lines/animal models
- Info on free CME Credit for CHM Education
- Information/brochures to share with patients about CHM events, support, and education
This initiative is sponsored in part thanks to generous support from Biogen.
Please note that any information regarding clinical trials is being provided for informational purposes only. The Choroideremia Research Foundation does not endorse any specific clinical trial. Please discuss any questions you may have about clinical trials with your healthcare provider.