For Patients & Families
Part of our mission is to provide information and resources for patients with choroideremia and/or their family members.
For further help, please feel free to contact us.
Join the CHM Registry
Join the CHM Patient Registry by clicking on your preferred language:
→ English / French / German / Portuguese / Spanish
What is the CHM Registry?
The Registry is a collection of names and basic contact information of people around the world who have CHM.
Why Should I Join?
- Individuals who register will receive updates on new clinical trials and other research opportunities.
- Enable the collection and sharing of information from a large number of patients within the research community.
- Opportunity to participate in “Patient Preference and Experience” surveys.
- Improves chances of drug development.
How Long will Sign-up Take?
Less than 5 minutes!
Will My Information be Shared?
All of the information provided will be treated as confidential and that under no circumstance will personal information will be shared with any other source, or third party.
Find a Doctor
Are you looking for a retina specialist?
The American Society of Retinal Specialists provides a physician locator to help you find a retina specialist.
Anyone with an inherited retinal disease (IRD) should consider genetic testing. Genetic testing may be able to identify the mutated gene or genes responsible for your vision loss. Armed with this important information, you and your doctor can determine the best course of action for your disease and discuss whether clinical research might apply to you.
If you were tested a few years ago and you didn’t receive a conclusive result—or received a negative one—think about getting tested again. Genetic tests have improved, more details about your specific genetic variations or mutations may be revealed, research is advancing, and a person may learn more from a newer test.
When you identify and understand the gene mutations responsible for vision loss, you may open new possibilities for yourself and your family. There are more than 300 genes known to cause IRDs, and the availability of genetic testing has opened doors and brought information and clarity to many living with one of these rare eye diseases. Today there are approximately 100 recruiting, enrolling, or active clinical studies for IRDs on ClinicalTrials.gov, the national resource housing information on all clinical studies across the country. The more patients and the medical community know about specific gene mutations, the faster clinical trials may progress.
Because of this, everyone with an IRD or suspected IRD should pursue genetic testing. Identifying and understanding the changes in your genes (mutations) that are responsible for vision loss is the first step in opening new possibilities for yourself and your family.
Genetic Testing – Your Options
Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa and a generous donation by PTC Therapeutics to provide genetic testing for those affected with CHM.
For free genetic testing through Project CHM, ask your PHYSICIAN to perform the following steps:
- Your physician needs to download the Project CHM Genetic Testing Voucher from CRF.
- Your physician should complete Carver Lab’s online request form. Select “Voucher” for method of payment.
- Your physician will send a blood sample drawn from you to Carver Lab, with the voucher.
Afterwards, YOU should follow up with these two steps:
- To increase insurance reimbursement for genetic testing, please submit your genetic testing to your insurance company. Carver Lab will send an invoice marked PAID to patients, who should then file the invoice with their insurance company.
- Please register with the CHM Patient Registry.
Physicians should receive results from the genetic testing within 3 months to share with their patients. If results have not been received within 3 months, please follow up with your physician and Carver Laboratory.
If positive results are confirmed, as CHM is an inherited retinal disease, other family members should also be considered for testing.
Please note that the voucher expires on December 31, 2022. Subject to available funds, this program may be extended so feel free to check back after this date.
The Carver Lab is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM. The CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.
Patient & Family Support
For those living with CHM or their families, there are several ways to communicate with others in the same situation. Contact CRFC at firstname.lastname@example.org and we can connect you with a peer.
Emotional Aspects of Vision Loss & CHM Part I: https://www.youtube.com/watch?v=bAceZlFPR4A
Emotional Aspects of Vision Loss & CHM Chat Part II: https://www.youtube.com/watch?v=ygihlRYb9IQ
Email Support Group
Please note: These links are provided for informational purposes. The CRF does not monitor content of these groups.
Choroideremia (CHM) https://www.facebook.com/groups/Choroideremia/
Choroideremia Research Foundation Canada https://www.facebook.com/crfcanada/
Choroideremia CHM for Understanding (International) https://www.facebook.com/groups/1388456481446308/?ref=bookmarks
Choroideremia Norway https://www.facebook.com/CHMNorthNorway/
Leben mit Choroideremia (German) https://www.facebook.com/groups/606431343168032/about/
Choroideremia Greece https://www.facebook.com/greecesopranochoroideremia.greece
Choroideremia Awareness https://www.facebook.com/Choroideremia-Awareness-133138336739037/
Choroideremia Moms https://www.facebook.com/groups/978428405667029/
Spouses of Choroideremia https://www.facebook.com/groups/784934478268986/
Coroideremia (Portugese) https://www.facebook.com/Coroideremia-164001050760710/
Asociación de Afectados por la COROIDEREMIA (Spanish) https://www.facebook.com/coroideremia/
CHM Moms for Each Other https://www.facebook.com/groups/334819910042088/
Living with CHM’s progressive vision loss brings with it challenges that can be mitigated or lessened by adopting basic lifestyle changes. Below are some tips regarding choroideremia eye health and daily living that have been assembled by medical professionals and fellow CHMers. For further information, please contact your local CBIB branch.
Products & Services
Below are links to products that some of our members have found useful. This list is provided for informational purposes only. CRFC does not endorse any of these products.
Cocoons Eye Wear https://cocoonseyewear.com/cocoons-polarized-fitovers
OrCam Wearable Assistive Devices https://www.orcam.com/en/
Berryessa Lighting Solutions https://www.berryessadesigns.com/about-us.html
Stella Lighting http://www.stellalighting.com/
Eschenbach Filters & Magnifiers https://www.eschenbach.com/products/absorptive-filters.asp
AmbuTech Canes https://ambutech.com/
Revolution Advantage Canes http://advantage-canes.com/
Free Canes https://www.nfb.org/programs-services/free-white-cane-program
Freedom Scientific Low Vision Products https://www.freedomscientific.com/products/lowvision/
Humanware Accessibility Software http://www.humanware.com/en-usa/home
Computers for the Blind https://www.computersfortheblind.org/
BARD Mobile Free Audio Books https://www.loc.gov/programs/national-library-service-for-the-blind-and-print-disabled/about-this-service/
LS&S Products for the Visually Impaired https://www.lssproducts.com/
Optelec Low Vision Wearables and Daily Living Aids https://us.optelec.com/
Council of State Administrators of Vocational Rehabilitation https://www.csavr.org/stateagencydirectory
Retina International http://www.retina-international.org/our-members/
Choroideremia Research Foundation USA https://curechm.org/
Air Charity Network: http://aircharitynetwork.org/
Healthcare Hospitality: https://www.hhnetwork.org/about-us
Mercy Medical Angels: https://www.mercymedical.org/request-assistance
Air Flight East: https://angelflighteast.org/
Patient Stories & Videos
The below stories and videos are courtesy of our International Partner, CRF.
CHMer Mike McCarthy explains what it is like to live with choroideremia in the video below.
Here’s what the Choroideremia Research Foundation is doing to make a difference!
Meet More CHMers
- Meet Mike Martens
- Meet Brian Counter
- Meet Neal Bench
- Meet Chris Moen
- Meet Sam Harding
- Meet Wayne Thompson
- Meet Kristin Ging
- Meet Tod Purvis
- Meet Justin Purvis
- Meet Ron and Danny Downs
- Meet Jan Laudenbach
- Meet Sebastian Joachim
- Meet Bob Hrdy