Many people with retinal conditions such as retinitis pigmentosa (RP) and age-related macular degeneration don’t think they can donate their eyes after they’ve passed away. They can’t imagine anyone would want eyes that didn’t work well. But in reality, affected eyes are in big demand.
“Those eyes are exactly what we need for research to better understand why these conditions occur,” says Meghan Marino, M.S., L.G.C., a genetic counselor at Cole Eye Institute, Cleveland Clinic, which maintains the largest collection of donor eyes affected by retinal diseases in the United States. The laboratory currently has more than 1,300 pairs.
Among her many roles, Marino works with patients, families and 110 eye banks nationwide to prepare for and process eye donations. On average, she coordinates the collection of 30 pairs annually. Marino is on-call 24 hours a day, seven days a week, ready to handle an incoming case.
“Meghan acts as the hub. Working with the doctors and families, she does a great job managing the process,” says Joe Hollyfield, Ph.D., who is the Llura and Gordon Gund Professor of Ophthalmology Research and chairs the Ophthalmic Research Department at Cole. “When someone has passed away, we have to move quickly.”
Dr. Hollyfield and his lab make tissues available to investigators around the world who are performing studies relevant to retinal diseases. For example, a team at the National Eye Institute (NEI) recently used tissues from Cole in a study which determined that trash-collecting cells in the retina known as microglia can go awry in people with RP. They accelerate vision loss by capturing and consuming rods, the photoreceptors that provide night and peripheral vision.
“These findings are important because they suggest that microglia may provide a target for entirely new therapeutic strategies aimed at halting blinding eye diseases of the retina,” says Paul A. Sieving, M.D., Ph.D., director at the NEI.
Genetically characterizing eye tissues—determining which mutated gene caused the disease—is an important part of the process after a donation is made. Stephanie Hagstrom, Ph.D., a genetic researcher, leads that effort at Cole. She’s currently working on a donation from a child who had succumbed to Batten disease, a severe condition that disrupts the ability of cells throughout the body, including the retina, to dispose of wastes.
“By understanding how the genetic mutation led to vision loss in a patient, we can get a clearer target for potential treatments,” says Dr. Hagstrom. “And a human example of the disease will provide invaluable information on this correlation that we can’t get from an animal model.”
If you are interested in registering to become a retinal-disease eye donor, you can download a registration form from the FFB website. (Note: the Foundation’s eye donor program closed as of June 1, 2016.)
Anyone with questions about the donation process may contact Meghan Marino at firstname.lastname@example.org. She’ll also help you find a genetic counselor in your region, if you have other, non-donation questions related to your retinal condition.
Pictured, above: The back half of a donated eye affected by retinitis pigmentosa. The dark coloring on the inside wall of the eye (the retina) is known as bone spicule pigmentation and indicates significant degeneration.