AMD Blindness Gene Identified
Added On : 13th April 2010
A faulty gene behind one of the world's most common causes of blindness has been identified offering hope for new ways of treating and preventing the disease.Scientists screened almost 1,000 patients with age-related macular degeneration (AMD) and found a significant link with a mutated version of the protein known as LIPC.
The gene also regulates good cholesterol - high-density lipoprotein (HDL) - which helps prevent heart disease and stroke by reducing the risk of clogged arteries.
Dr Benjamin Neale, of Massachusetts General Hospital, Boston, and colleagues, said: "This finding could lead to insights regarding disease progression, ways to modify risk of AMD and new treatments."
Smoking and obesity are factors said to increase the risk of AMD which affects 500,000 people in Britain.
Macular disease involves the central part of the retina, usually in both eyes although they may not be affected at the same time or to the same degree.
Ninety per cent of AMD cases are dry AMD, where visual cells stop functioning.
This cannot currently be treated. But 10 per cent are wet AMD, where new blood vessels grow under the centre of the retina, leaking fluid and causing scar tissue to form.
This destroys central vision over a period of between two months and three years.
The researchers whose findings are published in Proceedings of the National Academy of Sciences studied the genomes of 979 advanced AMD cases and 1,709 controls who did not have the condition.
Dr Neale and colleagues said: "The burden of AMD is increasing among the growing elderly population.
"The advanced form of AMD is clinically significant anbd it causes visual loss and reduces quality of life.
"Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD."
The Macular Disease Society welcomed the research.
Cathy Yelf, a spokeswoman for the charity, said: "It's clear that age-related macular degeneration (AMD) is a complex disease with several genetic components.
"This sort of research is so important because it brings us another step closer to a full understanding of macular disease (MD) and so to possible treatments.
"At some point in the future gene studies like this may give us reliable ways of predicting who is at risk of MD and so develop ways of preventing it."
