For Patients & Families

The information in this section is designed to provide information for patients with choroideremia and/or their family members.

Join the CHM Registry

Join the CHM Patient Registry by clicking on your preferred language to register:
English, French, German, Portuguese, or Spanish

Choroideremia Research Foundation logo icon in white

What is the CHM Registry
The Registry is a collection of names and some basic contact information of all the men and women around the world who have CHM.

Why Should I Join?

  • Clinical trial and study opportunities will start with this list of names.
  • Enable the collection and sharing of information from a large number of patients, with the research community
  • Connects scientists studying CHM with people in The Registry.
  • Amplifies your voice. Opportunity to participate in “Patient Preference and Experience” surveys to come in the future.
  • 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

United States

Dr. Jacque Duncan – University of California San Francisco, San Francisco, CA

Dr. Michael Gorin – University of California, Los Angeles, CA

Dr. Byron Lam – Bascom Palmer Eye Institute, University of Miami, Miami, FL
Dr. Gerald Fishman – University of Illinois, Eye and Ear Infirmary, Chicago, IL, currently with Chicago Lighthouse for the Blind and Visually Impaired

Dr. Edwin Stone – Wynn Institute for Vision Research, University of Iowa, Iowa City, IA

Dr. Brian Brooks – National Institutes of Health, Bethesda, MD
Dr. Eric Pierce – Massachusetts Eye & Ear Infirmary, Massachusetts General Hospital, Boston, MA

Dr. Rachel Huckfeldt – Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA

Dr. John Heckenlively – Kellogg Eye Center for the Study of Retinal Degenerative Diseases, University of Michigan, Ann Arbor, MI
Dr. Stephen Tsang – Edward S. Harkness Eye Institue, Columbia University, New York, NY
Dr. Allessandro Iannaccone – Duke University, Durham, NC
Dr. Elias Traboulsi – The Cleveland Clinic, Cleveland, OH
Dr. Richard Weleber – Casey Eye Institute, Oregon Health & Science University, Portland, OR

Dr. Mark Pennessi – Casey Eye Institute, Oregon Health & Science University, Portland, OR

Dr. Albert Maguire – Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, PA

Dr. Tomas Aleman – Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, PA

Dr. Richard Lewis – Cullen Eye Institute, Baylor College of Medicine, Houston, TX

Dr. David Birch – Retina Foundation of the Southwest, Dallas, TX

Dr. Paul Bernstein – Moran Eye Center, University of Utah, Salt Lake City, UT

Canada

Dr. Ian MacDonald – University of Alberta, Edmonton, AB Canada
Dr. Kevin Gregory-Evans – Dept of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, BC Canada
Dr. Elise Héon – Hospital for Sick Children, Toronto, ON, Canada
Dr.Robert K. Koenekoop – Montreal Children’s Hospital, McGill University HealthCentre, Montreal, QC, Canada

If you are a Retinal Specialist and would like to be added to this list, please contact Cory MacDonald by email.

Free Genetic Testing through Project CHM

The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing. This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics (www.ptcbio.com). Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.

To have free genetic testing performed through Project CHM, you can follow the following steps:

  1. Download the Project CHM Genetic Testing Voucher. The completed form will be sent with your patient’s blood sample.
  2. Complete the online request form at Carver Lab for your patient. For method of payment, select “Voucher”.
  3. Have a blood sample drawn and sent to the Carver Lab including the voucher.
  4. In an effort to increase insurance reimbursement for genetic testing, we are asking all Project CHM participants to submit their testing to their insurance company. Patients will receive an invoice from the Carver Lab marked PAID and should file this with their insurance carrier upon receipt.
  5. CRF is also asking all Project CHM patient participants to register with the CHM Patient Registry by clicking on your preferred language to register English, French, German, Portuguese, or Spanish– the Patient Registry takes less than 5 min to complete.

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 the 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, 2019. Subject to available funds, this program may be extended so feel free to check back after this date.

Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM. The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.

If you have diagnosed any patients with Choroideremia, it is important to have the diagnosis confirmed through genetic testing. A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in the CHM gene. A positive genetic test with a mutation in the CHM gene provides confirmation that your patient has CHM and not another similar retinal disease. Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.

Clinical Trials

While there is no current treatment or cure available for Choroideremia, there are a number of clinical trials currently underway testing potential treatments for CHM. Individuals interested in being part of a clinical trial, or eventually being treated for CHM when a treatment or cure becomes available will need to have had a genetic test to confirm their diagnosis of Choroideremia. These tests involve a simple blood draw that is sent off to an accredited lab where a diagnosis of CHM can be confirmed at a genetic level. Please note that any information regarding clinical trials or genetic testing is being provided for informational purposes only. The Choroideremia Research Foundation does not endorse any specific company, clinical trial or genetic test. Please discuss any questions you may have with your healthcare provider.

A number of clinical trials and natural history studies for Choroideremia are currently available and listed on the National Institutes of Health’s clinicaltrials.gov website.

Choroideremia Research Foundation icon

CRF Membership

The Choroideremia Research Foundation is a member-based organization – Membership is FREE, and 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.

Address


By submitting this form, you are consenting to receive marketing emails from: Choroideremia Research Foundation, 23 East Brundreth Street, Springfield, MA, 01109-2110, http://www.curechm.org. You can revoke your consent to receive emails at any time by using the SafeUnsubscribe® link, found at the bottom of every email. Emails are serviced by Constant Contact

Patient & Family Support

For those living with CHM, whether it be parent, spouse or affected CHMer, there are several ways you can receive free support services. These are all great resources for you to get information and input from people who are walking the same path you are. To speak with another patient or family member directly, call or email the CRF at 800-210-0233 or info@choroideremia.org and we can connect you with a peer.

Email Support Group
To subscribe to the free email support group, send an email to: choroideremia-subscribe@yahoogroups.com

There are several closed Facebook Groups that may offer ways for you to connect with others in similar circumstances.
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/

Patient Toolkit

Living with CHM’s progressive vision loss brings with it challenges that can be mitigated or lessened by adopting some basic lifestyle changes. Below are some tips regarding choroideremia eye health and daily living that have been assembled by medical professionals and fellow CHMers. In this Toolkit, we will provide tips on:

The CRF spoke to several eye doctors and asked for their input on supplements for CHMers. Please note, there is no clinical evidence that any of these supplements help CHM specifically. However, there is evidence these supplements may help the overall health of the eye.

The CRF highly recommends you speak to your own doctor before beginning any supplement regimen.

Supplement Recommended Dosage (Adult)
Lutein 20 mg/day
Omega-3 (Fish Oil) 200MG DHA + 400 EPA/day
Zeaxanthin 2 mg/day
N-Acetyl Cysteine (NAC) 300 mg/twice per day

Here are some general eye health nutrition tips from the Casey Eye Institute Ophthalmic Genetics Clinic:

  1. Eat vegetables and fruits which are high in lutein and zeaxanthin: There is some evidence that a diet that is rich in lutein and zeaxanthin may help protect the macula from oxidative damage by contributing to a layer of healthy macular pigments. Since the macula is the area of the retina that provides your best vision, it is probably wise to enrich your diet with foods that are high in these substances. These are generally healthy fruits and vegetables (including peppers, lettuce, asparagus, corn, broccoli, spinach, fresh collar greens, swiss chard, kelp, and kale) that may also reduce the risks of heart disease and cancers. Because lutein and zeaxanthin are only two of over 600 plant carotenoids, many of which may also be healthy, we recommend eating foods that are high in these compounds rather than capsule supplementation with lutein and zeaxanthin compounds alone. It’s recommend to consume 15,000 micrograms of lutein per day from dietary sources.
  1. Eat fish: The omega-3 fatty acids found in dark fish may help slow the loss of vision. PLEASE NOTE: The FDA has confirmed that fish is an important part of a healthy diet, but has recently recommended that women who might become pregnant, women who are pregnant, nursing mothers and young children avoid certain types of fish that may contain higher amounts of mercury. These fish include shark, swordfish, king mackerel and tilefish. The FDA encourages this group of people to avoid these fish with higher mercury content and, instead, to eat up to 12 ounces a week of fish that are lower in mercury, which includes canned light tuna, salmon, pollock and shrimp. Albacore and steak tuna have more mercury than canned light tuna and so should not be eaten more than once a week. The FDA also encourages people to check with local health advisories regarding fish caught by family and friends, and to limit consumption of that fish to once per week if local advisories are unavailable.
  2. Protect your eyes: Bright sunlight may speed up the damage to the retina. Wear sunglasses and/or a hat with a brim while outdoors.
  3. Quit smoking: If you smoke, now is the time to stop because cigarette smoke is a strong risk factor for developing macular disease and making retinal disease worse. If you are unable to stop smoking on your own, your physician, the American Lung Association, or the American Cancer Society may be able to help. Cigarette smokers should avoid taking vitamins with beta-carotene since it increases the risk of lung cancer in smokers.

Here are some important tips from fellow CHMers!

  1. Annual Doctor Visit
    Every CHM patient should visit their eye doctor on an annual basis.
  2. Wear Sunglasses
    Always whenever outdoors! All doctors recommend UV protection sunglasses for CHMers. Sunglasses protect against glare and damaging rays to retina cells. Wraparound sunglasses can also reduce reflective glare. (HINT- Keep sunglasses on until you step indoors, reducing the time to adjust to indoor lighting)
  3. Wear a Cap or Hat
    The shade of the brim cuts down significantly on reflected glare. This is true for outside and indoor lighting.
  4. Put Glare Behind You
    Reduce eye strain and increase your ability to see what is around you. Choose the seat facing away from the window, harnessing that glare to light up your friends’ faces versus seeing them as a silhouette.
  5. Learn to Ask/Accept Help
    Being led through a restaurant, a dark venue or through crowds is both safer and reduces distress on those with you. Most people are happy to help. If help is offered but not needed, be gracious for their offer.
  6. Use a Cane
    Using a cane or an ID Cane, visually alerts folks that you may not see them. It’s a matter of safety for them and for you. When traveling, it is always good to have a backup cane. A broken or lost cane may not be easily replaced, adversely effecting your trip.
  7. Ask a CHMer
    The greatest resources available to help you in living with CHM are fellow CHMers from across the globe via email and CRF social media platforms! You don’t need to reinvent the wheel for coping with CHM. We can help! And if you have found a better way of coping with CHM, we all definitely want to know!
The effects of CHM (progressive night blindness and loss of peripheral vision) can cause challenges both at work and daily living. The good news is that there are growing technologies to help compensate for those challenges. Adaptive software for computers, and apps for smart phones and smart devices can greatly enhance your productivity and independence.

Computers/Tablets

CHMer computer and tablet challenges are incremental difficulties seeing/tracking the cursor, eyestrain from glare, and lack of contrast and readable font size, which can require screen readers. Solutions are available and vary greatly depending upon your computer operating system.

(Windows vs. Apple)

Windows does have some accessibility features but generally requires investing in the purchase of additional third-party accessibility software to customize the screen to your visual needs and screen readers. Those software systems include:

    • JAWS (Freedom Scientific)
    • MAGic (Freedom Scientific)
    • ZoomText (AiSquared)
    • Dragon (Nuance)

Apple is the accessibility leader with significant built-in features on laptops and iPads. Apple also has a dedicated help center to assist you with any product challenges. [Apple Accessibility Support (877) 204-3930]. Their most useful accessibility features include:

    • Smart invert colors
    • Voiceover
    • Customizable fonts
    • Zoom
    • Accessibility shortcut key

Smartphones

Smartphones have become a game changer for CHM low-vision users by bringing accessibility with you wherever you are. iPhone is the leader in smartphone accessibility (see above). However, there is an ever-growing market of third-party accessibility apps available for iPhones and other phone manufacturers.

Accessibility Apps

These apps can help in generally two ways: 1) connecting you to a sighted person via your camera to assist you or 2) using your phone and the app for assistance. All are available via your app store for free and purchase. Here are some of the most frequently apps used by CHMers:

Sighted Assistants

    • Be My Eyes Connects users to volunteers to assist you by seeing/describing things via your phone camera (FREE)
    • Aira Connects users to trained guides to assist you in seeing things via your phone camera or guiding you via GPS (Free for calls under 5 minutes… free in certain airports… paid subscription for longer use)

In-Phone Assistance

Apps that work within your phone. Some may require internet/Wi-Fi.

    • KNFBReader Reads documents aloud.
    • Seeing AI A free app that can function as a document reader, currency identifier, barcode scanner, light detector, short text reader, and a handwriting reader.
    • DocsToGo A handy app for documents and PDFs. It allows you to pinch out (i.e. zoom) to raise the font size and it will re-justify all the text to stay within the screen. Super handy for presentations.
    • NIGHT VISION Uses the phone camera with slide control to greatly increase available light in dark locations.

Flashlight

Many CHMers know the value of carrying a small pocket flashlight. And yes, technology now gives us USB rechargeable micro flashlights like Streamlight 66608 Microstream USB Pocket Light.

Smart Home Controllers

Google Home or Amazon Echo are examples of Wi-Fi speakers that double as smart home control hubs and personal assistants. These devices can be programmed to sync with other compatible devices to turn lights on and off, adjust the thermostat, lock doors, make coffee, play music, read the news and weather, dispense measured amounts of water from a faucet, control a television and a wide variety of other tasks by voice command. Multiple devices can be installed in various rooms to provide voice activated services throughout the home.

A key part to maintaining independence when living with CHM‘s vision changes is in learning to adapt your environment, especially at home. Our primary challenges are in lighting and CONTRAST. Many solutions are simple changes. Others might require professionals. It will depend upon where your vision is now and in the future. Here are options that fellow CHMers have found useful.

Kitchen Lighting

Well-lit work surfaces can make all the difference in the kitchen. Adding under cabinet LED lighting can make a huge difference. There are DIY kits or contact a professional electrician.

Kitchen of Contrast

Contrast is key in the kitchen. From the color of counter tops to the tools and the plates you use, contrast makes the difference in safety and use. Many of these are available online and locally:

  • White and Dark Cutting Boards allow you to chop safely ie – white onions chopped on a dark cutting board.
  • Knives/Tools Contrast is as simple as choosing tool colors opposite to the color of your counter tops making it easy and safe to find them.
  • Large Print Measuring Cups are available in clear and colors that will allow for easy reading when measuring.
  • Plates with Borders – White plates with wide color edges make a big difference for someone with low vision to be able to see not only where the plate is but what is on it.

Tactile Bump Dots

Controls on appliances can be visually hard to see with low vision. But, a few strategically placed bump dots change that. Tactile bump dots are small self-adhesive dots that can be placed on appliances to tactilely indicate specific controls to touch or turn. Inexpensive dots come in clear and multiple colors and sizes. For example, putting a dot on a microwave number touch pad on the 1 minute and 30 second buttons allows you to easily set a time and operate the microwave.

Bump dots are great to travel with because you can mark your hotel door or the controls on the coffee pot.

While formal blind rehabilitation training can take place at a variety of levels, locations and varying stages of CHM, consider the following:

  • What are the areas that you find more challenging?
  • What aspects of daily life are most effected by your vision loss?
  • What resources are in your community that can help reach your goals of added independence & safety prior to professional mobility or orientation? (Transportation, technology, adaptations to home/office, etc.)
  • Professional Instruction: Cane Training; Adaptive Tools in Home, Assistive Technology; Computer/Phone adaptations; Guide Dogs and more….
Choroideremia may limit some of your career options but it doesn’t limit your opportunities for a very successful and prosperous life!

CRF supports career counseling from public or local advocacy organizations, however often times, the best advice comes from others who have CHM. Please visit the Support section of this website for more information.

Today’s technology, as well as using different adaptations, allows people with vision loss to do just about any job you can think of. The following list, although not exhaustive, is meant to give a general idea of the different careers and jobs done by people who are blind or visually impaired:

  • Teachers, college professors and guidance counselors
  • Social workers and psychologists
  • Doctors, nurses and occupational and physical therapists
  • Masseuses and chiropractors
  • Rehabilitation teachers and counselors
  • Customer service representatives
  • Restaurant and store workers
  • Factory workers
  • Freelance writers, journalists and TV and radio broadcasters
  • DJs and musicians
  • Attorneys, judges and politicians
  • Executive directors and managers
  • Coaches and athletes
  • Authors and motivational speakers
  • Chefs
  • Architects
  • Researchers, engineers and scientists
  • Artists and photographers

A resource for job seekers who are visually impaired:  Career Connect

According to the report for the 2015 National Health Interview Survey, 23.7 million American Adults age 18 and older reported experiencing vision loss. The Social Security Administration (SSA) considers “legal” or “statutory” blindness as a qualified disability. In fact, the blind can qualify for disability and still continue to work while receiving monthly benefits, provided they meet all SSA requirements.

Disability benefits can provide financial support and access to occupational rehabilitation, in which workers are trained for new professions. Disability benefits can additionally be an ongoing source of financial support for blind workers, allowing them to continue employment while simultaneously receiving monthly disability payments.

To qualify for disability benefits, your vision loss or blindness must meet one of the following listings:

  • Loss of central visual acuity (2.02) – this listing covers loss in your central field of vision and requires you see no better than 20/200 in your better eye.
  • Contraction of the visual field in the better eye (2.03) – you can qualify under this listing if you have a shrinking field of vision. Your doctor must measure your vision with specific tests and must record what you’re able to see when you’re focusing on a fixed point. This listing requires reports of your visual field, which is the distance in all directions from the fixed point on which you’re focused. That diameter must be no greater than 20 to 30 degrees. In other words, your visual field must be very narrow.
  • Loss of visual efficiency, or visual impairment (2.04) – this listing covers issues that cause blurry or unfocused vision or an absence of vision (total blindness). To qualify, you must have vision in your better eye that is no greater than 20/200 when wearing corrective lenses.

Working with Social Security and the Disability Division will take time & patience. Talking with your doctor and potentially a Social Security Attorney can help navigate these waters. One resource that may be helpful is the Disability Benefits Help website.

If you would like to contribute a tip, please click here to email us.

Resources

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.

Eye Wear

Cocoons Eye Wear https://cocoonseyewear.com/cocoons-polarized-fitovers
OrCam Wearable Assistive Devices https://www.orcam.com/en/
Solar Comfort Eye Wear http://solarcomfort.diopticssunwear.com/shop/solar-comfort-sunglasses/

Lighting

Berryessa Lighting Solutions https://www.berryessadesigns.com/about-us.html
Stella Lighting http://www.stellalighting.com/

Magnifiers

Eschenbach Filters & Magnifiers https://www.eschenbach.com/products/absorptive-filters.asp

Mobility

AmbuTech Canes https://ambutech.com/
Revolution Advantage Canes http://advantage-canes.com/

Technology

Freedom Scientific Low Vision Products https://www.freedomscientific.com/products/lowvision/
Humanware Accessibility Software http://www.humanware.com/en-usa/home

Various Products

LS&S Products for the Visually Impaired https://www.lssproducts.com/
Optelec Low Vision Wearables and Daily Living Aids https://us.optelec.com/

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