For Patients and Families

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.

Barbara and Keith Cameron

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.

Genetic Testing

Anyone with an inherited retinal disease (IRD) should consider genetic testing. Genetic testing may be able to identify the mutated gene or genes, as well as the contributing genetic variants 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 further, more than 300 different variants that can cause CHM. The availability of genetic testing has opened doors and brought information and clarity to many living with one of these rare eye diseases.

The future will hold gene and variant specific therapies, and as new potential treatments become available, details about these clinical trials will be posted on ClinicalTrials.gov, a resource with information on international clinical studies throughout the US and beyond. The more patients and the medical community know about specific gene mutations and variants, the faster clinical trials may progress. Because of this, everyone with an IRD or suspected IRD should pursue genetic testing.

Because of this, everyone with an IRD or suspected IRD should pursue genetic testing.

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, free 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.

Genetic Testing Outside the U.S.

NCBI Logo
Please note at the present time, the My Retina Tracker program is only available in the United States. Click here to visit the National Center for Biotechnology Information’s website and view a comprehensive list of companies worldwide which offer genetic testing for choroideremia.

The Sims Family

CRF Membership

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: Benefits include: membership voting privileges; 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; contact call; weekly e-newsletters and annual report (mail or email option); 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; contact call; weekly e-newsletters and annual report (mail or email option); 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 contact call; weekly e-newsletters and annual report (mail or email option); one time recognition in CRF’s annual report; 25% off merchandise and conference; invitation to networking events such as researcher receptions** at conferences. 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

CRF offers a variety of ongoing opportunities to socialize online with your fellow CHM family members via Zoom. Regularly scheduled events include:

Music Trivia
Sports Trivia
Beer Appreciation Club
Book Club
Moms of CHMers Chats
CHMer Convos
Holiday Parties
… and more.

Please view our upcoming calendar of events on Facebook at: https://www.facebook.com/CureCHM/events or email Cory MacDonald for more information.

Facebook 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

UK Choroideremia Friends and Support https://www.facebook.com/groups/322013511944104

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/

Spouses of Choroideremia https://www.facebook.com/groups/784934478268986/

Remember the Girls https://www.facebook.com/groups/rtgclosed
This group aims to break the stigma facing females impacted by X-linked conditions by providing them with tools to seek support, engage with research, and access family planning options, as well as by advocating for increased attention of medical professionals to the physical, emotional, and reproductive needs of this community.

WhatsApp / Twitter / Instagram

Join the conversation on the Choroidermia CHM chat on WhatsApp, on Twitter, and on Instagram.

YouTube

Over 225 videos have been posted to CRF’s YouTube channel, https://www.youtube.com/curechm, with information on everything from guide dogs, to assistive technology, emotional/social support and education, interviews with other patients, family members and researchers, science updates, and much, much more!

Patient Toolkit

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:

Supplements

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.

Vitamins, Supplements & Exercise for Eye Health: https://www.youtube.com/watch?v=GNdMk3CpGLI
Supplements for CHMers (PDF)

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

Diet

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

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.

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.
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.

Lifestyle

Here are some important tips from fellow CHMers!

Annual Doctor Visit
Every CHM patient should visit their eye doctor on an annual basis.
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)
Wear a Cap or Hat
The shade of the brim cuts down significantly on reflected glare. This is true for outside and indoor lighting.
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.
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.
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.
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 want to know!
Exercise & Lifestyle (PDF)

Technology

The effects of CHM 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)

To connect with a Microsoft expert on Microsoft Office and Windows accessibility questions, dial:
1-800-936-5900. Available Monday to Friday from 6am to 10pm (PST) and Saturday to Sunday from 7am to 6pm (PST).

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. Their most useful accessibility features include:

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

To contact Apple Accessibility Support over the phone for iPhone, iPad, IWatch and MacBooks, dial:

- United States: 1-877-204-3930
- United Kingdom: 0800 107 6285
- Australia: (61) 1-300-365-083
- China mainland: 400-619-8141 (Mandarin only)

Low Vision Devices Intro: https://www.youtube.com/watch?v=rT-TUPO3CrM

Blindness Device Intro: https://www.youtube.com/watch?v=vE17G0_IdGQ

Adaptive Computer Software: https://www.youtube.com/watch?v=chyQvQG7gi0

Smartphones

Intro to Mobile Apps Webinar: https://www.youtube.com/watch?v=tS9Vqp2S1uk

2020 iPhone 11 Pro Max, iOS 13.5 Accessibility Features for Low-Vision: https://www.youtube.com/watch?v=6UoVmGjT1Ww

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)
- Lazarillo Guides users through their city and building environments with real-time voice messages and connects users with businesses through accessible online shopping and notification services

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.

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.

Wearable Devices

For more information on the future of wearable assistive technology, please view the following webinar:
Sensory Augmentation: A ‘Tango’ with Advanced Wearables and Microservices, John-Ross Rizzo, MD.

https://www.youtube.com/watch?v=0CUL1SVL1lE

Adaptive Technology Podcasts

Double Tap
Access Tech Live
Shawn of the Shed
Apple vis (about iOS & Apple tech)
Living Blindfully
The Eye on the Cure from FFB
Freedom Scientific Training (intended for accessibility trainers, but a good listen)
Freedom Scientific FSCast, from the creators of JAWS
Technically Working
The Tech Doctor
The Echo Tips (for those with Alexa or Echo devices)
On Tech & Vision, hosted by the Lighthouse Guild
TTJ Tech Talks

Home Adaptation

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.

Adjust the Lighting

Add floor and table lamps around the living room, dining room, kitchen and bedroom. Clip-on lights can be placed strategically around the house.
Use lighting that is 60–100 watts. Replace burnt-out bulbs regularly.
Use adjustable blinds or sheer curtains to allow for natural light throughout the home.
Experiment with lighting to find out which works best for your individual needs. There is halogen, fluorescent, incandescent or flood lighting. Note: fluorescent light bothers many visually impaired people.
In case you need additional light at night, keep a flashlight or heavy-duty light on a keychain handy.
Make sure light is uniform throughout your entire hallway to more easily identify where it curves or ends.

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

In the Kitchen with CHM: https://www.youtube.com/watch?v=nIFtPLtp7zs

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 i.e. – 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.
Avoid using clear glass dishes and cups – they are more difficult to see.

Rearrange the Furniture

Rearranging the furniture in your house can help you avoid injury and move around more easily. You can:

Place mirrors strategically to avoid glare or reflecting light.
Keep some chairs near the windows in case you want to read, work or craft in the natural light.
Arrange furniture close together so that you can easily converse with others.
When buying new furniture, try to pick upholstery with texture. This will help you more easily identify the different pieces of furniture.
Place brightly colored vases or lamps near key items of furniture so that you can locate the furniture more easily.

Eliminate Safety Hazards

Feeling safe inside your own home is important. There are a number of things you can do to prevent falls and other injuries. You can:

Keep desk and table chairs pushed in. Train your family to do the same. All of the time. No exceptions.
Use non-skid, non-glare products to clean and polish your floors. Avoid waxing floors, which can make floors slippery.
Remove low-lying coffee tables and end tables that might be trip hazards.
Make sure electrical cords are removed from pathways or taped down securely so you won’t trip.
Tape down any area rugs you have and replace any worn carpeting or floor covering.
Keep all floors dry. Wipe up any spills immediately.
Install grab bars or safety rails in high-slip areas like your bathroom or stairs.
Mark step edges with yellow reflective tape so that you can easily identify them.
Always keep your fire extinguisher and first aid kit in the same, easily accessible, place.
Make sure all exits are marked with a bright, contrasting color in case of an emergency.
Check smoke and fire alarms often. Ensure they are loud enough that you can hear them throughout the house.

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 allow 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.

Orientation & Mobility

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….

Is a Guide Dog in Your Future?: https://www.youtube.com/watch?v=_bVAzhgpQX8

Employment

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, the best advice often 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

Disability

According to the report for the 2015 National Health Interview Survey, 23.7 million American Adults aged 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 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.

For more information on CHMer Rights under the Americans with Disabilities Act (ADA), please view this YouTube video or refer to this PowerPoint presentation.

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.

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/