Resources for Your Patients with Inherited Retinal Disease

Jul 21, 2021
9 min read
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According to Michelle Glaze, associate director of professional outreach, “Our primary mission at the Foundation Fighting Blindness is to drive research to find treatments and cures for blinding retinal diseases. Next, we are committed to providing eyecare professionals and their patients with the resources they need to most effectively deal with the complexities that come with a diagnosis of an inherited retinal disease (IRD).”

“In my current role, I connect with eyecare professionals across the nation to raise awareness about the multitude of resources the Foundation has available,” Glaze said. Some of the most significant resources offered through the Foundation are genetic testing and counseling, updates on clinical research, continuing education, referral support, and guidance on how to instill optimism in patients with a progressive retinal disease.

No cost genetic testing and genetic counseling

The Foundation funds research for inherited retinal disease (IRD), such as retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, and Leber congenital amaurosis (LCA). It also supports research for age-related macular degeneration. Genetic testing plays a huge role in helping patients understand their disease, inheritance patterns, and risk factors. It also enables individuals with an IRD to participate in clinical trials.

Through the Foundation’s Open Access genetic testing program, both free genetic testing and genetic counseling are available to people with IRDs in the U.S.

Many retinal diseases can look alike. It is important to confirm a clinical diagnosis through genetic testing for several reasons, which are explored in this important BBC documentary. One is to confirm a clinical diagnosis to ensure proper treatment protocols. Knowing the genetic mutation can help a person discern how the disease may affect their vision during their lifetime. Also, there could be a treatment available, or one on the horizon. Additionally, it can help a family distinguish inheritance patterns and help determine if children, siblings, or other family members are at risk.

In 2019, the Foundation partnered with Blueprint Genetics and InformedDNA® to start its Open Access Genetic Testing Program. Through the program, any retinal healthcare provider capable of diagnosing an inherited retinal disease can order genetic testing and genetic counseling services for their qualifying patients.

Free genetic counseling

Patients gain two distinct benefits from genetic counseling: a better grasp of their disease, including implications, and a path toward clinical trials. Understandably, many doctors are hesitant to offer counseling on their own because results can be difficult to read, especially for those not necessarily well versed in the inherited retinal diseases. That is where professional counselors at InformedDNA come in. Through the Foundation’s Open Access program, no-cost genetic counseling is provided to help patients gain deeper insight into their results.

My Retina Tracker Registry

Another integral component of the genetic service is the “My Retina Tracker” registry. With the goal of accelerating research and cures, the Registry shares de-identified information within the IRD research and clinical communities. Through the confidential online portal, patients create a record with basic information, demographics, their clinical diagnosis, and genetic testing results.

Glaze explained, “The Registry is a way for patients to raise their hand and be seen by the research community.” It is also how patients are identified for clinical trials. Many trials require that a patient have a genetic diagnosis to participate. Without properly characterized patients, clinical trials are not possible. This is why it is really important for individuals who have an inherited retinal disease to get involved.

Clinical trials are critical

There are over 40 clinical trials underway right now in the inherited retinal disease space. Each of these is impactful and inspiring to patients who are either potential candidates for the trial or will be positively impacted. According to Glaze, “For many patients with inherited retinal disease, even the neuroprotective types of strategies can help by retaining current usable vision. Knowing the breadth of trials underway is exciting and provides hope for the future.”

Ongoing clinical trials

There is much to discuss on the ongoing clinical trials front. Luxturna, the first and only FDA-approved gene therapy for an inherited retinal disease, was approved for mutations in retinal pigment epithelium (RPE65).

“Patients are actually receiving this treatment and vision is being restored, which is really amazing.”

In addition, there are four gene-therapy clinical trials underway for mutations in RPGR, which causes x-linked retinitis pigmentosa. “We're hopeful that one of those will make it across the finish line,” said Glaze.

There are a variety of other areas in which clinical trials are occurring, including cell-based therapies, optogenetics, neuroprotective strategies that are not gene specific, and CRISPR gene-editing technology. Gene editing technologies—such as CRISPR, which is currently in a clinical trial for a mutation in CEP290 (which causes a form of LCA)—can actually modify DNA by cutting out the genetic mutation, leaving a properly functioning gene.

For more information on current clinical trials, watch our free webinar.

Education for eyecare professionals

“One of our most relevant resources is education for eyecare professionals. The Foundation’s website is full of information in the form of articles, videos, podcasts, and webinars that cover inherited retinal diseases, genetic testing, and clinical trials,” Glaze said. The “Eye on Education” video series covers inherited retinal diseases and related science topics. The Foundation also offers hands-on documents that eye care professionals can keep in their clinics to hand to patients when they're diagnosed to supply them with pertinent facts and direct them to the Foundation. In addition, the professional outreach team is poised to answer any questions and connect you to relevant support services.

Continuing education on inherited retinal diseases

The Foundation Fighting Blindness determined continuing education for optometrists and ophthalmologists was a really important piece of the puzzle for the professional eyecare community.

A year and a half ago, the Foundation began offering continuing education courses in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME).

There are now three enduring courses available on the website. They include “Clinical Trials of Emerging Therapies for Retinal Degeneration Patients: Hope and Opportunities,” “Practical Management of Inherited Retinal Disorders,” and “Inherited Retinal Diseases Overview, Patient Resources, and Clinical Trials.”

A new CME course focusing on macular diseases will launch on October 5th, 2021. It will be presented by Marco Zarbin, MD, PhD who serves as chair of the Institute of Ophthalmology and Visual Science, Rutgers-New Jersey Medical School (NJMS) and Chief of Ophthalmology at University Hospital in Newark, N.J.

Connection is key for patients with inherited retinal disease

The power of connection cannot be underestimated. Glaze said, “One of the most valuable resources doctors can offer their patients is connection. It is so important for newly diagnosed individuals to connect with others in their community who are affected by these diseases. We have chapters in over 40 markets made up of people who either have an inherited retinal disease or have a loved one who’s impacted, which we encourage patients to utilize.” The Foundation can also help point patients to rehabilitation facilities, low vision services, the latest technologies, and other entities who can guide them through their low vision journey as well as support the eyecare professional.

The value of virtual support groups

Though most metropolitan areas have in-person support groups, many smaller communities may not. However, there are still many opportunities for involvement with this patient population. Nowadays, luckily, you can find support events online.

Life has turned to a very virtual place, which, of course, has been a challenge in many ways. But, for individuals with low vision who often have a hard time traveling or are intimidated to meet people in person because of factors like not being able to see people's faces or navigate their surroundings, the option of virtual connection is welcome.

The role hope with an IRD diagnosis

After being diagnosed with IRD, Glaze searched for support and found the Foundation. She explained, “Hope. In a word, this is what I needed as someone who’d been newly diagnosed with retinitis pigmentosa. In 2011, I sought out the Foundation as a way to be proactive in the face of my disease. I joined in one of their Vision Walks with the thought, ‘At least, I can help to raise money to forward the mission of the Foundation. This could lead to a cure for me down the road.’”

During an IRD diagnosis, optimism sets the stage for success. “We all remember the very moment that we were told that we have a disease that's going to potentially rob us of our vision. It means so much if your doctor says, ‘You have this disease, but here are all the reasons to be hopeful. Here are all the things we can do,’” Glaze stated.

Rather than leaving a patient to walk that journey alone, arming them with knowledge, support, referrals to the proper specialists, and most importantly, hope is the most powerful thing an eye care professional can do.

It is vital that patients realize there are opportunities and strategies to help them continue to enjoy their life and to fully take advantage of the vision they have left. The Foundation’s “Beacons of Hope” stories, which spotlight individuals with IRD who are doing amazing things and have very rich and full lives, are a great resource at this time.

For the future

In some cases, eyecare professionals don't feel they can effectively help their patients with an inherited retinal disease. “We, at the Foundation Fighting Blindness, want to ensure optometrists and ophthalmologists are aware that there are resources out there for them and their patients,” Glaze said. “We are here to provide education, connection, and practical resources—but, most of all, hope. “

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