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Deborah Day
Mike Scholes, 58, trekked across the Arctic to the geographic North Pole, fundraising for a UK charity that helps the visually impaired. Scholes himself is visually impaired, but his eyesight markedly improved after participating in a clinical trial.
By
TODAY contributor
updated 9/30/2011 8:07:38 AM ET 2011-09-30T12:07:38

Mike Scholes was training for a freefall parachute jump five years ago when his vision began to fail.

“I went for an eye test at the optician, and on the way to pick up my glasses five days later, I nearly crashed the car,” says the 58-year-old adventure junkie from Lindfield in West Sussex, United Kingdom.

Within days and without warning, he had lost most of the sight in his left eye. “This meant an abrupt change in my life,” Scholes says. “I had a very successful hot air balloon business, and I had to stop flying. I had to sell my cars as I could no longer drive.”

After seven months of screening — including CT and MRI scans, X-rays and a spinal tap — a DNA test detected Leber's hereditary optic neuropathy, an inherited condition that causes people who can see normally to lose sight in one eye. Months later, they lose sight in the other eye — for Scholes, this happened around the time of his diagnosis. At that point, he couldn’t see in an increasingly large area in the center of both eyes. Colors gradually disappeared, until he could only make out hues of blue.

Inherited from the mother and targeting primarily men, LHON, as it's called, arises from damage to the optic nerve’s mitochondria — their cell-charging “batteries.” The condition leads to irreversible loss of sight, usually in young adulthood. It affects an estimated 10,000 people in the United States, another 10,000 in Europe and 2,000 in the United Kingdom.

“In a small number of patients, it does get better. Most patients remain legally blind for the rest of their lives,” says Dr. Patrick F. Chinnery, director at Newcastle University’s Institute of Genetic Medicine in Newcastle upon Tyne, United Kingdom.

In March 2009, three years after his initial symptoms began at age 54, Scholes heard about a six-month clinical trial at Newcastle University and volunteered to participate, taking a drug called idebenone three times daily without knowing whether he was receiving a placebo or the real drug. A month and a half later, he sensed the affected area in his vision’s center was smaller. The improvement continued, and he could discern yellow and most shades of red.

He was one of the fortunate few. The medication sharpened some patients’ eyesight and enhanced color perception. In fact, nine of the 36 patients taking idebenone were eventually able to read one row of letters on an eye chart — some were even able to tackle the second line. Previously, they'd been unable to make out a single letter.

Idebenone works by targeting the mitochondria, improving its function while removing harmful free radicals. This double-blind trial of the drug involved 85 patients from Newcastle Hospitals in the United Kingdom; Munich, Germany; and Montreal, Canada.

But while the medicine appeared to be safe and well-tolerated, the outcome “did not reach statistical significance,” the study’s authors reported in the neurology journal, Brain. Still, it's a significant step forward in treating the mitochondrial disorder.

Unlike a disease like glaucoma, which takes years to develop, this illness progresses swiftly, says Dr. Richard Lewis, a clinical correspondent for the American Academy of Ophthalmology and a professor specializing in hereditary eye diseases at Baylor College of Medicine in Houston. Lewis advises against drawing unrealistic conclusions from this trial, which enrolled a small number of patients and didn’t track them beyond six months.

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Scholes, meanwhile, continues to embrace adventure wholeheartedly, taking on more physically demanding challenges than most of us — sighted or not — would ever dream of.

“I did a parachute jump to raise funds for guide dogs for the blind,” he says. “And a year after my sight went, I ran my first marathon.” And in April 2010, he hiked to the North Pole, drumming up dollars for a charity that provides blind and partially sighted ex-servicemen and women with speaking computer programs. (He undertakes these feats with the assistance of a guide.)

A former pilot in the Royal Air Force, Scholes can still fly with a qualified pilot. Twice since the disease struck, he has journeyed to the Alps in a hot air balloon.

“I’m very lucky that it happened at 54, and not at 14 or 16,” Scholes, who has never married and has no children, says of his vision loss. "I'm very happy that it happened at that age, and not when I was so much younger."

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