Inherited retinal dystrophy (IRD) isn’t one disease. It’s many different ones that cause your retina to break down and stop working.
They can make you color-blind or night blind. Others can lead to total vision loss. Usually, you can’t treat retinal dystrophies. But that’s starting to change as researchers learn more.
But not everyone with an IRD has the same access to genetic testing, treatment, resources, or clinical trials. That’s because of health disparities that can result from your:
- Race or ethnicity
- Gender
- Education
- Income and poverty
- Disability
- Where you live
- Access to health care
- Health insurance
- Behavioral factors
All of these together are called social determinants of health. Your risk of having an IRD depends on the genes you got from your parents. But social factors influence your life with IRD. These can lead to disparities between groups affected by these conditions.
Who Gets Inherited Retinal Dystrophy?
It affects about 1 in every 2,000 or 1 in every 3,000 people. So it’s not common. But it’s a cause for major vision problems and blindness in more than 2 million people living around the world. Some people with IRD may be less likely than others to know what’s causing their vision problems.
Disparities in Genetic Research
For the most part, there hasn’t been a way to treat IRDs. But that’s beginning to change as scientists learn more about them and get better at treating genetic conditions. For example, there’s now an approved gene therapy to treat a rare form of IRD. It’s caused by changes in a gene called RPE65.
Researchers and doctors think more treatments will be developed. It’s easier and cheaper to run genetic tests today than ever before. This makes it easier for scientists to figure out the specific gene that’s causing an IRD. It also makes it easier for you to get genetic tests to figure out what type of IRD you have.
The causes of some IRDs are still a mystery. About 3 in every 4 people with an IRD can get answers from a genetic test. In the others, doctors might be able to find a cause if they look at all of your DNA or all of your DNA that makes proteins.
But most studies to understand the genetics of health conditions are done in people who are white and/or from Europe.
Recent stats show more than 95% of what’s known from genome-wide studies comes from people with European ancestry. That’s compared to 3% from people originally from Asia and less than 1% each from people who are Black, Afro-Caribbean, African, Hispanic or Latin American. So the results don’t represent all people equally.
A Global Look at Disparities
Here’s an example of the disparities in IRD and the challenge of overcoming them. Retinitis pigmentosa (RP) is a major form of IRD. It causes severe vision loss or blindness, often by age 20. RP happens more often in India and some other South Asian countries.
Researchers have looked at this condition in India. Some other studies have studied the genes involved in RP in some families from Pakistan. But the causes of RP vary a lot. It’s hard to find all the genes involved and to study it in all the countries where it happens. Even when the genes are found, it’s hard to turn that info into better ways to diagnose and care for people.
The complexity and diversity of IRDs around the world make disparities at many levels more likely. These disparities also can be hard to overcome. But some experts are trying to understand them and find ways to lessen their impact.
Disparities in Molecular Diagnosis and Genetic Testing
Having a genetic diagnosis for your IRD based on a test makes it easier for your doctor to know what’s wrong and what to do about it. It helps them manage your disease. It may help you know what to expect. It also can help you know the risk of IRD for other people in your family.
Genetic test results could influence how you’re treated for an IRD today or in the future. They may affect your ability to participate in studies to learn more about IRDs. But not everyone has equal access to this kind of testing. These differences in access to genetic testing lead to disparities.
Disparities in Access to Specialized Care and Clinical Trials
When you have access to quality health care, including specialized centers, you benefit from:
- Ophthalmologists (eye doctors) with experience diagnosing and treating IRDs
- Genetic counselors
- Low-vision specialists
- Social workers
- Access to clinical trials
When you have more resources or you’re from countries with more resources, you’re more likely to have access to this type of care. The ability to get specialized care also depends on where you live, your income, health insurance, and other factors.
Medical mistrust due to a history of discrimination can make Black people and those in other racial groups less willing to join clinical studies. They also may be less willing to try new treatments, even once they’re approved.
Disparities in Resources to Help With Vision Loss
Vision loss and blindness have a big effect on your life and what you’re able to do. The way you’re able to manage your vision loss and get the help and support you need depends on lots of social factors. So disparities again come into play.
If you have an IRD, psychosocial support can help you adjust to your disease. It can help with your:
- Mental health
- Emotions
- Social challenges
- Spiritual needs
It can help you understand your IRD better and come to terms with it. It can also help you find support for managing your vision loss from low vision specialists or others in your community. But access to these supports varies a lot depending on:
- Your educational and professional background
- How much money you have
- Where you live
- Your family situation
If you don’t have resources and support for your vision loss, it may be hard to keep your job. Where you live also affects how well you get around. For example, some places use reflective tape on stairs or cross walks that talk to you. It’s easier in some places to use public transportation if you can’t drive. If you live in the U.S., resources depend on what state you live in.
These complicated factors can impact your life with IRD and lead to disparities.
