The importance of early diagnosis

From the time we wake up until we go to sleep, our eyes help us navigate the world. Like a fine-tuned camera, each part of our eyes has a very specific job to do.

What is Hereditary Retinal Disease (IRD)

Our dome-shaped cornea, the front layer of the eye, lets light through and bends it to help us focus. Some light enters through 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 passes through the lens of the eye, which works with the cornea to focus the light on the retina. The retina, located at the back of our eye, is sensitive to light. It contains special cells called photoreceptors that convert light into electrical signals that go to the brain and turn those signals into the images you see.

Sometimes something can go wrong with one part of our eyes. A rare group of diseases that affect the retina are called Inherited Retinal Diseases (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 does not work properly. About 300 are known to play a role in these diseases.

Some IRDs can develop slowly, while others can change vision much more quickly. Some can lead to vision loss.

Why is early detection of IRD helpful?

“It’s important to understand that these diseases are rare, relatively speaking. But for the people with IRD, it can be life-changing,” says Shree Kurup, MD, FACP, a retina specialist at University Hospital Cleveland Medical Center. “But what’s important to know is that early detection of any 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 IRD. But getting a diagnosis involves more than a routine eye exam. “There can be many reasons for blurred vision, and IRD won’t be every eye doctor’s first thought,” says Matthew MacCumber, MD, PhD, a retina specialist at Rush University Medical Center. There is a large amount of diversity among all IRDs, so making an accurate diagnosis can be difficult. “Sometimes patients can 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,” says MacCumber.

To make a diagnosis, doctors rely on a battery of specialized tests that give them information about many aspects of your vision. A genetic test will tell you exactly which 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 IRD can change their lives,” says MacCumber. “Early diagnosis also gives patients early access to a team of specialists who can help them.” That team is made up of ophthalmologists, optometrists, retina specialists, genetic counselors and other experts in vision loss.

Early diagnosis and clinical trials

An early and accurate diagnosis can also help you enroll in a clinical trial. This gives you the opportunity to try new treatments before they become available to the public. Although almost no IRDs currently have a treatment, doctors are hopeful about the future of gene therapy. In clinical trials of one such treatment, patients reported being able to get rid of several devices designed to help visually impaired people see faces and read.

“Gene therapy is the future of IRDs, and we have come a long way in genetic research. 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 to find a 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 can be for a parent to hear that their child may lose their sight, or how difficult it is for an active adult to hear that they may need to change things in their life,” says Kurup. “IRDs are very complex, but each patient is an individual. For these people, knowledge really is power, and the sooner they get that power, the better.”

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