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diagnosed with inherited retinal disease: how to navigate care with vision loss
getting informed about your ird symptoms helps you feel more prepared for what’s to come and what might be needed
5 minute read
inherited retinol disease causes progressive vision loss, although the majority of people will not become totally blind. part of planning and preparedness is becoming familiar with assistive devices and technology aids.
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a diagnosis of a rare eye disease can be overwhelming. out of all the senses, sight is how we navigate everyday activities and the world at large—roughly 80 per cent of all sensory input comes from vision. inherited retinal disease (ird) is a term for genetic disorders that cause progressive vision loss or blindness by damaging the light-sensitive cells in the retina. these are driven by mutations in more than 270 different genes. about 21,000 canadians are living with ird, according to the national charity fighting blindness canada.
while research in the space is promising with gene-editing therapy and transpalpebral electrical stimulation (tes), where mild electrical currents through electrodes placed on the eyelid stimulate retinal cells and preserve vision, there’s not a lot that experts can offer people with ird. however, their knowledge and support can make a significant impact on day-to-day management.
here are the steps to navigate your care:
1. connect with an ird specialist
having honest conversations with a specialist can help you be more prepared as the disease progresses.
“what i find the most rewarding is sitting down with a patient, taking the time, and feeling that weight on their shoulder become a little less heavy,” says dr. sarah chorfi, an ophthalmologist at the centre hospitalier de l’université de montréal, where she leads weekly ophthalmic genetics clinics. she says when patients hear “retinitis pigmentosa” from a general ophthalmologist or optometrist, they can go down a rabbit hole of anxiety with online searching. she has advanced training in ird, bringing a deep understanding and perspective to her patients.
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recently, a patient in his 40s came with his parents and told chorfi that she had changed his life.
“he was at a very low point where he felt like there was no hope and there was nothing for him. i told him that he had two options, two different journeys you can take. the first one is to just sit down and not do anything. and i always tell patients that you’re allowed to do this if you need it. you can do it for a few years or you can do it for a few months, that’s okay.”
2. build an ird toolbox (when you’re ready)
chorfi explains that the other option is to take action and build a toolbox by looking for all the tools available, including adaptive devices like a cane and smartphone apps that help with navigation. “some patients feel like if you have a cane, it’s game over, you’re blind. but the cane is just part of the toolbox. you do not always have to use the cane.” canes are foldable and can be toted in a backpack, just in case. for example, when you’re outside and it’s getting dark, you could take out your cane to help guide you, she says, adding that familiarizing yourself with assistive devices before you may need them makes transitions easier.
the other side of the fear of stigma of using a cane is benefitting from the recognition that you have vision loss. “i’ve heard from a lot of people about the relief, because without the cane, people look at them as if they’re weirdos because they bump into things and bump into people. but that cane makes others understand and be much more gentle.”
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also important to building the toolbox is going at your own pace—a recommendation she circles back to for emphasis.
“i always open the door (to patients), saying that there are resources, and i always ask the patient, ‘would you like to know more about the resources?’ and when they say no, i write a note in the chart that they’re not ready and i try later on.”
other tools include specialty apps like seeing ai that narrate the world around you by pointing your smartphone or ipad camera at something. it can help read currency, name colours and decipher handwriting. another example is be my eyes, which connects visually-impaired people with sighted volunteers through a live video call for help with tasks.
as well, there are screen readers that provide audio descriptions of onscreen content, several magnification tools, and smart glasses that offer audio descriptions of the environment and help with reading and navigation.
3. understand the symptoms of ird
getting informed about your ird symptoms helps you feel more prepared for what’s to come and what might be needed.
as chorfi points out, “everybody should understand that inherited retinal conditions are on a spectrum, so no one is going to have the same course. i tell patients, i do not expect you to wake up one morning and all of a sudden you’re totally blind. this condition doesn’t work like that. it’s a slowly progressive condition. it takes years, and i always tell them that they were born with it.”
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some people will become totally blind, but the majority of people with ird will keep some vision.
symptoms include night blindness and loss of peripheral or central vision, which can occur at birth or develop over time.
also key is finding a low vision association or organization for information and resources in your province or territory, or a national organization like fighting blindness canada, foundation fighting blindness (for podcasts and newsletters, for example) and the canadian ophthalmological society.
and chorfi directs people to clinicaltrials.gov to learn more about new clinical trials from around the world that they may want to participate in.
4. find the right ird support for you
there are lifestyle and economic impacts of low vision that need to be considered to reduce anxiety and navigate logistics.
when she meets younger patients who can still make decisions to plan their lives, she talks about considerations like living in a place where there’s public transit, so if they’re not able to drive later in life, they’ll have access to mobility supports.
“i tend to recommend not buying a house in the countryside. we don’t know what’s going to happen, it’s better to plan accordingly to give you less anxiety.”
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she also raises topics like career choices, letting people know they can still pursue their interests.
“in my patient population, i have university professors, lawyers and computer programmers, and some of them have very low vision, but they use tools and they work and they manage.” she sees a wide range of ages, from teens and young adults through to people in their 80s, and aims to meet them where they are.
finding a support group of peers through a low-vision organization and getting professional counselling are both worth looking into, although everyone’s experience and needs are different.
as a final note, chorfi wants to convey a message of hope for people with ird.
“i often tell patients that 20 years ago, the situation for patients with their diagnosis was less bright because now, not only do we have hope with new treatments and therapies, but also technology is advancing so fast. self-driving cars already exist, and they’re already driving themselves in california.”
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