Retinal diseases may be incurable, at the moment, but, with the help of specialized training and technology, they are not unmanageable. In fact, a savvy patient working with a conscientious eye doctor can adjust relatively well to the various stages of vision loss — via, for instance, mobility or assistive-technology training. And in the case of wet age-related macular degeneration, or AMD, there are treatments that slow vision loss.
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A Foundation-funded research team at the University of Pennsylvania — in collaboration with scientists from Michigan State University, the University of Florida and the University of Miami — has found a remarkable way to restore function to fledgling cones, the retinal cells most critical to our daily lives. Drs. András Komáromy and Gutavo Aguirre injected a high dose of a protein called ciliary neurotrophic factor (CNTF) into the eyes of older dogs with achromatopsia, a retinal disease that causes day blindness from cone dysfunction and degeneration. What happened next is extraordinary.
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Researchers are developing a number of promising treatment approaches for blinding retinal diseases, which include: correcting genetic defects; replacing lost retinal cells with new ones; and implanting electronic chips, like the recently FDA-approved Argus II. But, sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration. Known as “neuroprotection,” this approach isn’t just for the retina — it has the potential to preserve and protect all kinds of neural cells, including brain tissue and cells of the central nervous system.
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“Translational research” is the mantra for many of the retinal scientists funded by the Foundation Fighting Blindness. In a nutshell, the phrase refers to the advancement of vision-saving therapies from laboratories into clinical trials and out to the people who need them.
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Stem cells are a highly promising treatment approach for a wide range of conditions and diseases, because they can be used to replace virtually any type of cell or tissue in the body lost to disease or injury. In the not-too-distant future, in fact, researchers will be able to turn stem cells into new photoreceptors for people who have lost vision to a retinal disease.
Although a disease called cone-rod dystrophy has rendered me legally blind, I’m known, in certain circles, as a world-class triathlete. I swim as well as bike and run (often on mountain trails). I began competing before my vision deteriorated, and I’ve since learned to use my other senses. In fact, I like to think of my feet as my eyes. I take an awful lot of steps, and I don’t land heavily. If I’m on a trail and step on something that doesn’t feel right, I hop off, then move quickly forward. It’s usually on the run where I beat my competition.
But you know what? I can no longer shop for groceries.
Photo has been altered to show how someone with AMD might see the Mona Lisa.
Diseases such as age-related macular degeneration, cone-rod dystrophy and Stargardt disease cause scotomas, or blind spots, which often have devastating effects on central vision. They cause gaps in a person’s visual field, making it difficult to see words in a book, images on a computer monitor or TV and the features of someone’s face.
But as clinical researchers are learning, central vision loss also causes people to have problems with fixation, the ability to maintain one’s gaze in a single direction, which is an added challenge in recognizing faces.
You wouldn’t think that being called an “orphan” is a good thing. But for developers of treatments for rare diseases — including inherited retinal conditions — “orphan” status provides valuable benefits, such as tax incentives, access to special research grants and assistance with clinical trial design. The orphan designation also gives seven years of market exclusivity to the developer of a treatment.
Photo courtesy of the National Eye Institute
I am always excited when a new research paper comes across my desk reporting on an emerging treatment that has saved or restored vision in an animal or cell-based model of retinal disease. The advancement provides meaningful hope for a therapy that can benefit people. But it raises a big question for the Foundation Fighting Blindness: What will it take to move the treatment into and through human studies?
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Two days ago, as part of FFB’s “Light the Way to a Cure” fundraising campaign, I shared the story of Corey Haas, as an example of clinical trial participants benefitting from gene therapy studies the Foundation supports. In his case, the therapy’s for a retinal disease called Leber congenital amaurosis. Today, I’d like to share the story of Dick Coulson (pictured, left), who has age-related macular degeneration (AMD), the leading cause of blindness in people age 55 and older. It’s also the target of two treatments that are currently in clinical, or human, trials, both of which are derived from stem cells.
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Steve is highly respected for his expertise and tireless commitment to finding treatments and cures for vision-robbing retinal diseases. Read More...
As the Foundation's senior science writer, Ben writes science and research articles for the Foundation’s website, newsletters and Eye on the Cure blog. Read More...
As the Foundation's senior writer, Rich writes and edits content for all of the Foundation’s print and online publications, including its blog, Eye on the Cure. Read More...
