Stories of Lives Transformed: Seeing Again
Dustin Vidrine is 34 years old and lives in Lafayette, Louisiana. Like a lot of people with retinitis pigmentosa (RP), he didn't lose his sight all at once. It started in his teenage years … first trouble seeing at night, then the slow narrowing of his peripheral vision until he could only read a single letter on a computer screen at a time. Without treatment, many people with RP are legally blind by 40.
There is no approved therapy for the specific mutation causing Dustin's blindness. But science is moving fast. Some promising clinical trials are underway, and Dustin was hoping to enroll in one — which would first require a specialist evaluation in Texas. When I spoke to NPR about his case earlier this year, he was still waiting for out-of-state coverage approval from his insurer.
Breakthrough treatments
I think about Dustin when I read stories like Jack Hogan’s.
Jack was 13 when he received Luxturna, the first FDA-approved in vivo gene therapy for an inherited disease. His form of retinitis pigmentosa — caused by a mutation in the RPE65 gene, different from Dustin's — had been stealing his vision since he was two and a half. By the time he got the treatment, he'd lost his peripheral vision and night sight. Now he can read fine print, ride a bike after dark, and walk without holding onto a friend's shoulder to keep his balance.
Then there is Ethan Ralston, whose story is just as incredible.
Ethan was 13 in 2018 when his vision began to fail suddenly. Within four days, he lost sight in his right eye and all but peripheral vision in his left. He was diagnosed with Leber Hereditary Optic Neuropathy, an extremely rare condition caused by mutations in mitochondrial DNA that destroy the cells of the optic nerve. It affects roughly 1 in 50,000 people, predominantly boys, and it moves fast.
It’s hard to imagine the shock of losing vision so unexpectedly and permanently. Moved by Ethan’s struggle, an anonymous donor paid for a pair of IrisVision glasses. The FDA-approved virtual reality headset magnifies a user’s remaining sight and leverages algorithms, a connected smart phone camera, and voice prompts to adjust to different conditions. Ethan was presented the gift at a school assembly in an emotional ceremony that left no dry eye in the house.
The headset was light weight but bulky in size, and Ethan still required his cane to get around, but the gift felt life-changing. Ethan vowed to control his disease and not let it control his life.
As futuristic as that device sounds, it’s nothing compared to what happened next, when Ethan was enrolled in a clinical trial for a new gene therapy called Lumevoq, which delivers a functional copy of the mutated gene directly into the eye. He underwent the infusion procedure, and his eyesight was almost completely restored. Years later, Ethan’s vision remains strong.
Ethan received his injection in both eyes but, amazingly, an injection in even one eye has a dramatic effect on the other as well. Apparently, the therapy can travel along the optic nerve to repair the mitochondrial DNA in the other eye, too.
A brighter future?
These stories shine a light on the incredible scientific progress in restoring sight to patients with genetic eye disorders. But they leave us asking important questions: who gets access and why some and not others?
Dustin is still waiting for coverage approval to see a specialist. Jack was one of the first to be treated with Luxturna, but the drug costs roughly $425,000 per eye — a number that puts it out of reach for many families without significant insurance support. Ethan enrolled in a trial just in time. The difference between those outcomes isn't science, it's insurance design, geography, and timing. Getting these therapies to the patients who need them is the defining challenge of this moment in medicine. We must step up and do our part to make treatment possible for more.
