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: Single-celled predator evolves tiny, human-like 'eye'

Related Stories

Single-celled predator evolves tiny, human-like 'eye'

July 1, 2015

A single-celled marine plankton evolved a miniature version of a multi-cellular eye, possibly to help see its prey better, according to University of British Columbia (UBC) research published today in Nature.

Superhydrophobic glass coating offers clear benefits

May 11, 2015

A moth's eye and lotus leaf were the inspirations for an antireflective water-repelling, or superhydrophobic, glass coating that holds significant potential for solar panels, lenses, detectors, windows, weapons systems and ...

Physicists working to cure 'dry eye' disease

May 6, 2014

The eye is an exquisitely sensitive system with many aspects that remain somewhat of a mystery—both in the laboratory and in the clinic. A U.S.-based team of mathematicians and optometrists is working to change this by ...

Recommended for you

How the finch changes its tune

August 3, 2015

Like top musicians, songbirds train from a young age to weed out errors and trim variability from their songs, ultimately becoming consistent and reliable performers. But as with human musicians, even the best are not machines. ...

Machine Translates Thoughts into Speech in Real Time

December 21, 2009

(PhysOrg.com) -- By implanting an electrode into the brain of a person with locked-in syndrome, scientists have demonstrated how to wirelessly transmit neural signals to a speech synthesizer. The "thought-to-speech" process ...

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.