Scientists in Aberdeen have been awarded more than £245,000 to investigate a genetic eye disease which can lead to blindness.
The Wellcome Trust has given Dr Martin Collinson the funds to examine a condition which can result in the cornea of the eye – our window on the world – becoming cloudy and resulting in loss of vision.
The problem is one of the symptoms caused by a mutation of Pax6 – a master regulatory gene which is responsible for development of the eye, brain and nasal tissue.
Usually we are born with two copies of Pax6, but some people are born with one copy of the gene, which results in abnormalities and underdevelopment of the eye. This condition is called Aniridia.
Dr Collinson, a Lecturer in Biomedical Sciences at the University of Aberdeen , said: “A number of things can go wrong with the eye if there is a mutation of the gene. It can result in the eye having no iris, which means the retina can be susceptible to damage because too much light is let in. This condition can be corrected with sunglasses or contact lenses.
“The lens of the eye can also become cloudy and cataracts can develop. The eye can also become susceptible to glaucoma.
“However one of the main problems that can affect sufferers is that the cornea of the eye can become opaque which leaves the eye only able to distinguish light and dark.”
Corneal transplants can be carried out on patients, but these are often rejected and can leave the eye inflamed and in an even worse state.
Now researchers in Aberdeen are to use the Wellcome Trust money to investigate what goes wrong with the cornea in the hope it will lead to the development of new treatments for sufferers of the condition.
Dr Collinson, who is based at the University's Institute of Medical Sciences , said: “We want to find out whether it is the cells of the cornea that are at fault or whether the corneal cells are perfectly ok but are being “sabotaged” by failure of other parts of the eye to develop properly.”
In normal eyes cells regularly fall off the cornea and are replaced by stem cells which are found at the edge of the cornea. These stem cells produce new corneal cells which move across the eye when required. However in Aniridic eyes, the damaged cells on the surface of the eye are not replaced.
Researchers know that people with the Pax6 condition do usually have stem cells although these do not function as well as normal.
Now they want to establish whether that small defect is stopping the stem cells from being “told” about the damage to the cornea, or whether replacement cells are prevented from moving across the eye and healing the damaged area.
Dr Collinson added: “It might even be that targeting the cornea is misplaced when in fact it is the lens of the eye which has the problem.
“Our job is to find out what we can and pass that knowledge to clinicians in the hope it will lead to the development of better treatments and therapies.”
This kind of Pax6 defect affects around one in 30,000 live births in the West.