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24th November 2017

New vision for man with genetic blindness

When he was born, Marc’s mother thought his vision problem was the result of medication she had taken while pregnant. Now, 60 years later, he knows his condition is genetic – and an innovative ‘bionic eye’ has given him the chance to see

Six decades ago, there were no genetic tests to help doctors diagnose congenital conditions. When Marc was born, scientists had just begun to unravel the mysteries of DNA so it was impossible to pinpoint the true cause of hereditary illnesses.

That’s why his parents were not concerned about having another child. Two years after Marc was born, his sister arrived – she too was visually impaired. But it wasn’t until Marc was 57 that he finally had an answer to the question: Why can’t I see? Genetic testing revealed that Marc had Leber’s disease, a rare progressive form of visual loss.

“When I was young, I could see a little,” Marc recalls. “I could see the lights of a car on the street; I could recognise my mother or father if they were standing one metre away.”

At 10 years of age, Marc could read newspaper headlines – but not the small print – and could follow other skiers when he hit the slopes. However, doctors never offered much hope of improvement. “There was no treatment,” he says. “Even when I was diagnosed the doctors focused on my descendants, assuring me that there was no risk.”

As Leber’s disease is passed on only through maternal genes, none of Marc’s four children were ever at risk. Indeed, the chances of losing sight due to diabetes is higher than going blind due to Leber’s disease, even for those whose father has the condition.

Visual renaissance

While medical treatment was not an option, Marc had already heard about retinal implants and knew that an innovative new technology was beginning studied at a hospital in Strasbourg. He was keen to know more.

The technology in question, is an implant that aims to do the job of the faulty light receptors in Marc’s retina. He wears special glasses with a camera that ‘sees’ what he is looking at. This information sent via WiFi to tiny electrodes that have been implanted in his eye. These electrodes carry the signal to the brain through the optic nerve helping Marc to visualise his environment.

“I went online to do some research and the hospital gave me some information about the technology,” says Marc. “After two or three days, I had decided to go for it.”

Marc recovered quickly from surgery but it takes time to adapt to the device. At first, he could see very little and the intensity of the stimulation from the ‘bionic eye’ had to be increased. Six months later, with the support of a carefully-designed training programme, he began to see more and more.

Today, two years after his surgery, Marc’s vision continues to improve. “I want to wear the glasses more and more,” he says. “I wear them until I turn out the light before going to bed.”

Continued progress

“Even after two years, I’m still making progress,” says Marc. “You have to wear the glasses a lot to get used to it but the more I use the system, the more I see.”

However, he says not everyone will have the same experience of the implant because every individual has a different starting point due to the large number of rare genetic conditions that can cause blindness. “For me, it was a very good operation, but it’s difficult to explain to others how it will be for them – everyone has their own experience and expectations.”

Some people – including Marc – hope the technology will allow them to spend more time on the ski slopes; others dream of regaining independence and leaving their homes for the first time in years. “But you have nothing to lose by doing this surgery,” says Marc.

Picture Credits: Second Sight