The Importance of Early Diagnosis

From the minute we wake up until we go to sleep, 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 Inherited Retinal Dystrophy (IRD)

Our dome-shaped cornea, the front layer of the eye, allows light to pass through and bends it to help us focus. Some light enters though the small opening of the pupil. How much light the pupil can let in is controlled by the iris, the colored part of the eye. That light then travels through the lens of the eye, which works together with the cornea to focus light on the retina. The retina, located at the back of our eye, is light sensitive. It contains special cells called photoreceptors that turn light into electrical signals that go to your brain and changes those signals into the images you see.

Sometimes things can go wrong with one of the parts of our eyes. A rare group of disorders affecting the retina are called inherited retinal dystrophies (IRDs.) These groups of diseases are hereditary, meaning they are passed down through families. The cause is mutations, or malfunctions, in at least one gene that is not working properly. There are around 300 known to play a role in these diseases.

Some IRDs may progress slowly, while another may change vision much more quickly. Some may lead to vision loss.

Why Is Earlier Diagnosis of IRDs Helpful?

“It’s important to understand these diseases are rare, relatively speaking. But for the people who have an IRD, it can be life-changing,” says Shree Kurup, MD, FACP, a retinal specialist at  University Hospitals Cleveland Medical Center. “But what’s important to know is that early diagnosis of any one of these diseases can absolutely improve lives. We may not be able to cure every IRD, but we are making significant progress in learning more about the several hundred genes that can cause them.”

There are more than 260 genes that can cause IRDs. But getting a diagnosis is more involved than a routine eye exam. “There can be a lot of reasons for blurry vision, and an IRD is not going to be the first thought of any eye doctor,” says Matthew MacCumber, MD, PhD, a retinal specialist at Rush University Medical Center. There is a great amount of variety among all IRDs, so it can be tough to make an accurate diagnosis. “Sometimes patients may be misdiagnosed for years and when they finally get a firm, accurate diagnosis it’s almost a relief because they can finally put a name to their problem,” MacCumber says.

To make a diagnosis, doctors rely on a battery of specialized tests that give them information on many aspects of your vision. A genetic test will tell you exactly what genetic mutation you have and can help your doctor confirm your diagnosis. It will also give you and your family important information about your disease, how you may need to plan for your own future, and how it may affect other family members and future generations.

“It’s important to spend a lot of time with people to explain how an IRD may change their lives,” MacCumber says. “An early diagnosis also gives patients access early on to a team of experts that can help them.” That team is made up of ophthalmologists, optometrists, retinal specialists, genetic counselors, and other experts in low vision.

Early Diagnosis and Clinical Trials

An early and accurate diagnosis also can help you enroll in a clinical trial. This will give you the chance to try new therapies before they’re available to the general public. Although almost no IRDs have treatments right now, doctors are hopeful about the future of gene therapies. In clinical trials of one such therapy, patients reported that they were able to get rid of some devices designed to help those with vision loss see faces and read.

“Gene therapy is the future of IRDs, and we’ve come a long way in genetic testing, We are learning more and more about these diseases. I absolutely, 100% recommend that patients participate in a clinical trial if they are eligible. This is the way we will find cures,” MacCumber says.

The most important thing for the majority of people with IRDs right now is to not lose hope. “Imagine how hard it can be for a parent to hear their child may lose their sight or how hard it is for an active adult to hear they may have to change things in their life,” Kurup says. “IRDs are very complex, but each patient is an individual. For these people, knowledge really is power, and the earlier they get that power the better.”