New finding in rare eye disease

July 14, 2008
New finding in rare eye disease

(PhysOrg.com) -- Researchers have made a finding which could pave the way for new treatments for sufferers of a rare eye disease which can lead to blindness.

In a paper published in the Journal of Pathology, scientists reveal they have discovered why mutations in a key gene can cause the cornea to go opaque and lead to sight loss.

Pax6 is the gene responsible for the development of the eye and mutations of it can cause the cornea to go cloudy.

Corneas - our windows on the world – are delicate, transparent tissues which are constantly exposed to potentially damaging environmental factors such as daylight, ultraviolet light and high levels of oxygen.

Normal corneas contain proteins that protect against the day to day stress of coping with these environmental stresses.

But around one in 40,000 people have Pax6 mutations which lead to them developing a condition called Aniridia, where the iris of the eye is missing.

As well as having no iris, most sufferers will develop some degree of corneal cloudyness which is called Aniridia-Related Keratopathy or ARK.

Now researchers have found that people with ARK have tiny holes in their corneas, which open up the corneas to extra levels of stress. They also discovered that they have less of the protective proteins, which results in their eyes being unable to cope with everyday conditions. Over time, this leads to the corneas going cloudy.

Dr Martin Collinson, a Senior Lecturer in Biomedical Sciences at the University of Aberdeen, led the research team. He said: "In the worst cases Aniridia-Related Keratopathy can be chronically painful and sight threatening. Current therapy is surgery, anti-inflammatory drugs, or nothing at all."

The researchers found that if they applied chemicals to diseased corneas, they were able to reduce the stress caused by oxygen. This in turn gave cells on the eye's surface more of a fighting chance of protecting the eye.

Dr Collinson added: "Our findings provide answers to a disease that has been very poorly understood and is rather difficult to treat.

"We hope that our studies could potentially lead to new treatments for people with ARK that could involve eye drops as opposed to surgery."

Source: University of Aberdeen

Explore further: Dry eye sufferers will soon have a drug-free solution

Related Stories

Dry eye sufferers will soon have a drug-free solution

November 13, 2017
A study of dry eye sufferers who inserted a handheld neurostimulator device in their nose to make their eyes produce more tears experienced significant relief from their disease, according to research presented today at AAO ...

Increased use of ambulatory surgery centers for cataract surgery

November 22, 2017
National data shows a major shift in eye surgeries from hospitals to less expensive ambulatory surgery centers where care may be delivered faster and closer to home for some patients.

Study finds donor corneas can be safely preserved for longer period

November 10, 2017
Results from a large, national clinical trial show that corneal donor tissue can be safely stored for 11 days without negatively impacting the success of transplantation surgery to restore vision in people with diseases of ...

Curve-eye-ture: How to grow artificial corneas

October 19, 2017
Scientists at Newcastle University, UK, and the University of California have developed a new method to grow curved human corneas improving the quality and transparency - solely by controlling the behaviour of cells in a ...

A close look at efforts to turn back the growing problem of myopia

October 9, 2017
Several studies indicate that the prevalence of myopia is increasing in the U.S. and worldwide, and researchers project that the trend will continue in the coming decades. Otherwise known as nearsightedness, myopia occurs ...

Coming soon: Glaucoma self-care, from home?

September 23, 2017
(HealthDay)—For many glaucoma patients, repeat trips to a doctor's office to check on their eyes can be a real pain.

Recommended for you

Study seeks to aid diagnosis, management of catatonia

December 11, 2017
Catatonia, a syndrome of motor, emotional and behavioral abnormalities frequently characterized by muscular rigidity and a trance-like mental stupor and at times manifesting with great excitement or agitation, can occur during ...

New compound stops progressive kidney disease in its tracks

December 7, 2017
Progressive kidney diseases, whether caused by obesity, hypertension, diabetes, or rare genetic mutations, often have the same outcome: The cells responsible for filtering the blood are destroyed. Reporting today in Science, ...

New Lyme disease tests could offer quicker, more accurate detection

December 7, 2017
New tests to detect early Lyme disease - which is increasing beyond the summer months -could replace existing tests that often do not clearly identify the infection before health problems occur.

Spinal tap needle type impacts the risk of complications

December 6, 2017
The type of needle used during a lumbar puncture makes a significant difference in the subsequent occurrence of headache, nerve irritation and hearing disturbance in patients, according to a study by Hamilton medical researchers.

Men with HPV are 20 times more likely to be reinfected after one year

December 5, 2017
A new analysis of genital human papillomavirus (HPV) in men shows that infection with one HPV type strongly increases the risk of reinfection with the same type. In fact, men who are infected with the type responsible for ...

New tuberculosis drugs possible with understanding of old antibiotic

December 5, 2017
Tuberculosis, and other life-threatening microbial diseases, could be more effectively tackled with future drugs, thanks to new research into an old antibiotic by the University of Warwick and The Francis Crick Institute.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.