One of Southampton’s leading eye specialists is part of a team of international experts that has discovered a gene mutation that causes glaucoma.
The condition, which is one of the world’s leading causes of blindness and affects over 1% of the population over the age of 40, results in damage to the optic nerve and irreversible loss of vision.
It is currently treated by lowering pressure within the eye by taking drops or via surgery – but this is not effective in all patients and those who are diagnosed often do not identify symptoms until their sight has already deteriorated.
Professor Andrew Lotery and fellow consultant ophthalmologists Mr Alex MacLeod and Mr Aby Jacob at Southampton General Hospital’s eye unit and Dr Jane Gibson, Dr Sarah Ennis and Angela Cree of the University of Southampton, along with colleagues in Iceland, Australia, Hong Kong, China, Sweden and the USA, have all contributed to uncovering a new gene that may change this.
It is believed the breakthrough will lead to earlier detection of glaucoma.
The mutation is common among Europeans, with approximately 6% carrying two copies, putting them at 60% greater risk of developing the disease than those who carry none.
“In order to make progress in this disease, we need to better understand the basic biological processes which lead to glaucoma,” said Professor Lotery, professor of ophthalmology at the University of Southampton. “By doing this, we can then start to develop better treatments.”
“Our work in helping identify a novel gene and biological pathway for glaucoma is an important step forward in this respect.”
He added: “Previously we have seen how finding genes for macular degeneration is now leading to the development of novel clinical treatments and we expect this work in glaucoma will eventually have the same result.”
In 2008, Professor Lotery’s lab team in Southampton identified a major new genetic association with age-related macular degeneration. The gene, named SERPING1, is faulty in up to 25 per cent of sufferers.
Results of the glaucoma study were published earlier this week in the journal Nature Genetics. The grounbreaking project was supported by the Gift of Sight appeal (www.giftofsight.org.uk).
Posted on Thursday 16 September 2010