AEVR Congressional Briefing Focuses on Rare Eye Diseases

Featured speaker Ben Shaberman, PhD (Foundation Fighting Blindness) Addresses the Audience
Featured speaker Ben Shaberman, PhD (Foundation Fighting Blindness) addresses the audience

Click here to watch the video

On May 25, AEVR held a Congressional Briefing that focused on less-common eye diseases that, despite affecting fewer people than conditions such as Age-Related Macular Degeneration (AMD) and Diabetic Retinopathy (DR), still cause vision loss and blindness in a significant number of patients. Entitled Rare Eye Disease: Research Bringing Treatments to Patients, the briefing featured topics around rare retinal disease and Thyroid Eye Disease. Ben Shaberman, Vice President of Science Communications for the Foundation Fighting Blindness provided insight to research advancements that have been supported by the National Eye Institute (NEI) in rare retinal disease, and AEVR Executive Director, Dan Ignaszewski, shared information about the impacts of Thyroid Eye Disease. In addition, patients who are living with Usher Syndrome and Thyroid Eye Disease shared their experiences living with these diseases and the need to continue to advance research.

Classified as diseases that affect less than 200,000 Americans annually, rare diseases represent an area where significant research advancements are being made by NEI funded research, private foundation-funded research, and the pharmaceutical and biotechnology industries. Mr. Shaberman began the briefing with an overview the retina —the light-sensing area at the back of the eye—and how various retinal degenerative diseases affect the ability of the retina to detect light and transmit information to the brain for processing. He shared that the individual impacts of rare retinal diseases present differently and can lead to progressive vision loss and blindness.

Mr. Shaberman further shared how private foundations, the NEI, and industry play important roles in advancing research to bring treatments to patients. He highlighted advancements in gene therapy including how the first ocular gene therapy was made possible supported by private foundations, the NEI, and ultimately industry to bring a new product to treat patients. Mr. Shaberman also highlighted the potential of currently funded research internally at NEI and externally that seeks to use pluripotent stem cells that are derived from a patient’s own blood that could be utilized to grow RPE cells to transplant subretinally to provide future treatments to patients.

After Mr. Shaberman’s presentation, a patient with Usher Syndrome, Peggy Borst, shared her experience living with an inherited retinal disease and how the progressive vision loss she’s experienced since her twenties has impacted her and her family. She shared that she knows there is likely a day when she will progress to full vision loss beyond the tunneling and spotty vision she currently has, but that she hopes to see advancements that can stave off more vision loss and potentially restore vision in the future.

From left: Patient Advocates Natalie Roberts and Peggy Borst, Dr. Shaberman, and AEVR Executive Director Dan Ignaszewski

Following Ms. Borst’s experience, AEVR Executive Director, Mr. Ignaszewski, shared that in addition to rare retinal disease, Thyroid Eye Disease (TED) is also considered a rare eye disease. Mr. Ignaszewski explained how TED is an immune system disorder that results in hyperthyroidism which causes the tissue around the eye to become inflamed and swollen with symptoms including light sensitivity, grittiness and dryness in the eyes, excessive tearing, swelling of eyelids, eye bulging, double vision, and ultimately vision loss. Like some of the advances in the retinal space, researchers were able to develop a targeted biologic that helped treat TED which resulted in new treatments for patients beyond the existing steroids and surgical interventions most used.

Following this introduction to TED, Natalie Roberts, and LaQuilla Harris, two individuals living with TED shared their experience and how it has significantly impacted their lives, and how important research advancements have been in bringing new treatments to market that have helped improve their outcomes.

Mr. Ignaszewski wrapped up the briefing by thanking the sponsoring member organizations for their support for the briefing, including Research to Prevent Blindness (RPB), Foundation Fighting Blindness (FFB), Association for Research in Vision and Ophthalmology (ARVO), Genentech, Horizon Therapeutics, and Janssen.


AEVR thanks its sponsoring Member organizations for their support for the briefing:

  • Research to Prevent Blindness (RPB)
  • Foundation Fighting Blindness (FFB)
  • Association for Research in Vision and Ophthalmology (ARVO)
  • Genentech
  • Horizon Therapeutics
  • Janssen