Emerging Treatments for Stargardt and Dry AMD May Also Work for Best Disease

An international team of investigators found that a toxic substance called A2E, which is believed to cause vision loss in people with Stargardt disease and age-related macular degeneration (AMD), may also be the vision-robbing culprit in Best disease.

The researchers believe that emerging treatments that curb the accumulation of A2E in the retina — such as fenretinide which is being studied as a therapy for dry AMD — may benefit people with Best disease. They note that more studies need to be done to confirm the safety and efficacy of any potential treatments for Best disease.

The fenretinide treatment, which is being developed by Sirion Therapeutics, works by reducing the accumulation of A2E, and is currently in a Phase II clinical trial for dry AMD. In preclinical studies funded by the Foundation, fenretinide also reduced the accumulation of A2E in Stargardt disease.

Some retinal degenerative diseases — including AMD, Stargardt disease, and Best disease — are characterized by the build-up of waste deposits in the retina called lipofuscin. These deposits are comprised of fats, proteins, and other substances including toxic A2E.

The investigative team examined donor retinas of people who had been affected by Best disease and found A2E-laden lipofuscin deposits.

The team includes Foundation-funded investigator Gabe Travis, M.D., from the University of California, Los Angeles, and Edwin M. Stone, M.D., Ph.D., from the University of Iowa. Dr. Travis has conducted numerous Foundation-funded studies to understand the mechanisms and causes of a variety of retinal degenerative diseases, including A2E’s role in causing vision loss in Stargardt disease. Earlier this year, Travis won the Foundation’s “For the Love of Sight Award” for his career achievements in retinal research.