From the moment we wake up until we fall asleep, our eyes help us navigate the world. Like a finely tuned camera, each part of our eyes has a very specific job to do.
What is hereditary retinal dystrophy?
Our dome-shaped cornea, which is the front layer of our eye, allows light to pass through it and bends it to help us focus. Some light enters through a small opening of the pupil. The iris, the colored part of the eye, controls the amount of light that can enter the pupil. This light then travels through the eye’s lens, which works with the cornea to focus light on the retina. The retina at the back of the eye is sensitive to light. It contains special cells called photoreceptors that convert light into electrical signals that go to your brain and change those signals into the images you see.
Sometimes things can go wrong in one part of our eyes. A rare group of disorders that affect the retina are called hereditary retinal dystrophies (IRDs). These groups of diseases are hereditary, which means they are passed down through families. The cause is mutations or defects in at least one gene that is not working properly. There are about 300 known to play a role in these diseases.
Some IRDs may progress slowly, while others may change vision more quickly. Some may lead to vision loss.
Why is early diagnosis of IRDs beneficial?
“It’s important to understand that these diseases are relatively rare. But for people who have an IRD, it can be life-altering,” says Shree Kurup, MD, FACP, a retina specialist at University Hospitals Cleveland Medical Center. But what you should know is that early diagnosis of any of these diseases can completely improve life. We may not be able to cure every IRD, but we are making great progress in learning more about the several hundred genes that can cause it. “
There are more than 260 genes that can cause IRDs. But getting a diagnosis is more complicated than a routine eye exam. “There can be a lot of causes for blurred vision, and IRD wouldn’t be any ophthalmologist’s first thought,” says Matthew McCumber, MD, PhD, a retina specialist at Rush University Medical Center. There is a great deal of variety among all IRDs, so it can be difficult to make an accurate diagnosis. “Sometimes patients can be misdiagnosed for years, and when they finally get a solid, accurate diagnosis, it’s almost a relief because they can finally give their problem a name,” says MacCumber.
To make a diagnosis, doctors rely on a battery of specialized tests that give them information about many aspects of your vision. Genetic testing will tell you exactly which genetic mutation you have and can help your doctor confirm your diagnosis. It will also provide you and your family with important information about your illness, how you may need to plan for your future, and how it may affect other family members and future generations.
“It’s important to spend a lot of time with people explaining how IRD has changed their lives,” says MacCumber. “Early diagnosis also gives patients early access to a team of experts who can help them.” This team is made up of ophthalmologists, optometrists, retina specialists, genetic counselors and other low vision experts.
Early diagnosis and clinical trials
An early and accurate diagnosis can also help you enroll in a clinical trial. This will give you an opportunity to try new treatments before they are available to the general public. Although there are currently no treatments for IRDs, doctors are hopeful in the future of gene therapies. In clinical trials of one such treatment, patients reported that they were able to get rid of some devices designed to help those with vision loss see and read faces.
“Gene therapy is the future of IRDs, and we’ve come a long way with genetic testing, and we’re learning more and more about these diseases. And I would absolutely, 100% recommend that patients participate in a clinical trial if they qualify. That’s how we’re going to find the cure,” says MacCumber. .
The most important thing for the majority of people with IRDs right now is not to lose hope. “Imagine how difficult it must be for a parent to hear that their child may lose his sight or how difficult it must be for an active adult to hear that he may have to change things in his life,” says Korup. “IRDs are very complex, but every patient is an individual. For these people, knowledge really is power, and the sooner they have that power the better.”
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