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Ulster scientists in breakthrough which could end curse of hereditary blindness

By Laura Abernethy

Ulster University scientists have made a remarkable breakthrough which it is hoped could cure hereditary blindness.

They have discovered a treatment that can target the gene that leads to corneal dystrophy - a condition that causes cloudy deposits on the cornea.

These worsen with age and can lead to complete blindness.

It affects just one in 2,000 people worldwide, but lead scientist Professor Tara Moore says it can be very difficult for sufferers.

She explained: "This is rare, but this doesn't come into the picture when you have families with very young children who can't see. We have families asking how close we are to any kind of treatment. Anyone with the disease really wants some kind of treatment."

She said some people with the condition suffer pain in their eyes and struggle to sleep.

In some cases, the condition may not be detected until sufferers are adults; for others, it can cause problems from early childhood.

Currently, those with corneal dystrophy face a lifetime of treatment and the only option for those who go blind is a corneal transplant from a donor eye, but this has risks and varying success rates.

Prof Moore said: "When they do that corneal graft, they will replace your diseased centre portion with a new, clear one.

"In doing that, they leave all the stem cells out round the outside of your eye. When they do that, those stem cells can grow back, what you are seeing is that within a few months, the disease starts to come back."

But the new treatment, developed by scientists at the University's School of Biomedical Science, currently involves just one injection into the eye, which destroys the gene. It cannot return and the condition is effectively cured.

Professor Andrew Nesbit explained: "As well as helping the patient, this has benefits for the NHS. The one-off treatment is much better than a lifetime of treatment and you are preventing the need for some corneal transplants, which has a cost and a risk to the patient as well."

The treatment is personalised to each person's DNA, ensuring that only the defective gene is removed and no other parts of the eye are harmed.

"We are hoping to work in tandem with the consultant and they would provide blood samples. We would then be checking the DNA, designing this gene editing tool and then this injection will work for that one family. It's very much a personalised medicine," Prof Moore said.

The treatment is still in the early stages. It is being tested on mice but the scientists hope to start human trials soon and to develop it further. Over the next few years, they want to develop eye drops that will provide an easy and personalised treatment for each family.

Prof Moore said: "I want the ophthalmologist to be able to go to a shelf and give the family drops that they know contains something that will only target the problem."

The scientists are also hopeful that in the future, the treatment may be able to treat the disease before any symptoms even appear.

Prof Nesbit added: "If a parent has the disease, we know that approximately half that person's children will also have it.

"Once we've got the proper diagnosis of the parent, we can also test the children, so we will know if the children are susceptible to the disease and we may well be able to preventively treat them at an earlier stage."

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