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.
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.
Free Genetic Testing – Your Options
My Retina Tracker
Blueprint Genetics in partnership with the Foundation Fighting Blindness and InformedDNA offers the My Retina Tracker Program®, which is an open access, fee genetic testing program for individuals living in the United States with a clinical diagnosis of an inherited retinal degeneration (IRD).
→ Go to the Blueprint Genetics‘ My Retina Tracker website to get started.
As part of this program, there is free genetic counseling through InformedDNA, the leader in counseling individuals and families affected by IRDs. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. The Registry provides individuals the opportunity to contribute to research and the option to be contacted from the Foundation Fighting Blindness about relevant clinical trials. To get started, please talk to your doctor about the program.
ID Your IRD
Eye Want 2 Know® aims to equip those living with an IRD with the knowledge and resources they need to get started with genetic testing. Their ID YOUR IRD initiative provides free genetic testing for people in the U.S. who may be living with an IRD. The test results provide genetic information that may empower people and their healthcare providers to make more informed decisions and tailor their disease management plans.
If you got tested more than 5 years ago and didn’t get a definitive result, think about getting tested again, because today’s tests can identify more genes—at no cost to you. (Participants are responsible for any other costs they may incur because of participating in the program, such as doctors’ visits.
→ You can get more information plus your physician can order an ID Your IRD genetic test on the Eye Want 2 Know website.
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.
The Choroideremia Research Foundation is a member-based organization. Membership is open to any interested person. Membership is by household and covers all adult (18+) members of your household.
Please join us today – we will keep you informed of recent updates in research and other news related to CHM. Information shared with us is confidential.
CRF Membership Levels
FREE Membership (requires annual renewal): Benefits include: membership voting privileges; annual conference call; and quarterly newsletter with weekly e-newsletters and annual report (mail or email option). Become a FREE Member by clicking here.
Standard Membership (requires annual renewal): membership is $60 annually and benefits include: membership voting privileges; annual conference call; quarterly newsletter with weekly e-newsletters and annual report (mail or email option); recognition on CRF’s website, social media, and annual report; and 25% off merchandise and conference. Become a Standard Member by clicking here.
Standard Membership (automatic renewal): membership is $5 a month and membership automatically renews on a month-to-month basis. Benefits include: membership voting privileges; annual conference call; quarterly newsletter with weekly e-newsletters and annual report (mail or email option); recognition on CRF’s website, social media, and annual report; and 25% off merchandise and conference. Become a Recurring Standard Member by clicking here.
Lifetime Membership*: membership is a one-time cost of $600. Benefits include: membership voting privileges; annual conference call; quarterly newsletter with weekly e-newsletters and annual report (mail or email option); recognition on CRF’s website, social media, and annual report; 25% off merchandise and conference; annual personal letter or call from key staff or board member; invitation to networking events** at regional meetings and conferences including CRF Board, CRF Scientific Advisory Board, and researchers meetings. Become a Lifetime Member by clicking here.
* Existing Lifetime Members will receive the new benefits of that level & require no further action.
** Individuals may also qualify to attend Networking Events by serving as a volunteer with, or fundraiser for, CRF.
Patient & Family Support
For those living with CHM or their families, there are several ways to communicate with others in the same situation. Contact CRF at 800-210-0233 or 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 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 Research Foundation Canada https://www.facebook.com/crfcanada/
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/
WhatsApp / Twitter / Instagram
Join the conversation on the Choroidermia CHM chat on WhatsApp, on Twitter, and on Instagram.
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:
If you would like to contribute a suggestion, please click here to email us.
Products & Services
Below are links to products that some of our members have found useful. This list is provided for informational purposes only. CRF 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
Zoomax Technology Co., Limited https://www.zoomax.com
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 Canada https://curechm.ca/
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/
Guaranteed Rate Foundation: https://www.gr-foundation.org/
Modest Needs: https://www.modestneeds.org/
Vital Options: https://www.vitaloptions.org/grant-program
Patient Stories & Videos
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