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Gene variant increases risk of blindness
July 19, 2007Researchers have found a gene variant that can more than double the risk of developing the degenerative eye disease, age-related macular degeneration.
The macula lies at the centre of the retina and is essential for detailed central vision. Degeneration of the macula interferes with important tasks such as reading and driving.
Age-related macular degeneration (AMD), the cause of which is poorly understood, is the leading cause of visual loss in older people and the commonest cause of blindness in the USA and European countries.
The researchers based their findings on studies of patients with AMD (603 from England and 244 from Scotland) who were compared with 701 unaffected people.
They found that a variant in the complement C3 gene influenced the risk of developing AMD. For the 30% of the population who carry one copy of the so-called 'fast' variant the risk of AMD was increased by 70%, and for the 4% of people with two copies of the 'fast' variant the risk of AMD was more than doubled.
AMD can take two forms called 'wet' (also called choroidal neovascularisation or CNV) and 'dry' (also called geographic atrophy or GA). The 'fast' variant in the C3 gene increases the risk of both forms of the disease.
The complement C3 gene has a central role in the immune system. The results of this research provide strong evidence that inflammation is an important part of the disease process in AMD.
The goal of this type of research is to achieve a full understanding of the causes of AMD, which should lead to the development of better treatment and strategies for prevention of this common and debilitating disease.
Professor John Yates, at the University of Cambridge, said: "AMD is devastating for those who lose their site and we hope that a better understanding of what causes the disease will eventually lead to better treatment and perhaps prevention".
The initial studies were carried out by a team of researchers led by Professor Yates and Professor Tony Moore at the UCL Institute of Ophthalmology. Further work to confirm the initial findings was carried out by researchers in Scotland led by Professor Alan Wright, Medical Research Council Human Genetics Unit, Edinburgh.
University of Cambridge
The researchers based their findings on studies of patients with AMD (603 from England and 244 from Scotland) who were compared with 701 unaffected people.
They found that a variant in the complement C3 gene influenced the risk of developing AMD. For the 30% of the population who carry one copy of the so-called 'fast' variant the risk of AMD was increased by 70%, and for the 4% of people with two copies of the 'fast' variant the risk of AMD was more than doubled.
AMD can take two forms called 'wet' (also called choroidal neovascularisation or CNV) and 'dry' (also called geographic atrophy or GA). The 'fast' variant in the C3 gene increases the risk of both forms of the disease.
The complement C3 gene has a central role in the immune system. The results of this research provide strong evidence that inflammation is an important part of the disease process in AMD.
The goal of this type of research is to achieve a full understanding of the causes of AMD, which should lead to the development of better treatment and strategies for prevention of this common and debilitating disease.
Professor John Yates, at the University of Cambridge, said: "AMD is devastating for those who lose their site and we hope that a better understanding of what causes the disease will eventually lead to better treatment and perhaps prevention".
The initial studies were carried out by a team of researchers led by Professor Yates and Professor Tony Moore at the UCL Institute of Ophthalmology. Further work to confirm the initial findings was carried out by researchers in Scotland led by Professor Alan Wright, Medical Research Council Human Genetics Unit, Edinburgh.
University of Cambridge
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Cataract surgery helps AMD patients; steroid improves DME; online eye health forum
This month's Ophthalmology, the journal of the American Academy of Ophthalmology (Academy) reports on a national study that finds cataract surgery is likely to benefit patients with age-related macular degeneration (AMD) at all stages of the disease, on a clinical trial showing that the steroid triamcinolone may be effective in advanced diabetic macular edema (DME) patients when standard treatment fails, and on the public's use of two Academy-sponsored online eye health forums.
1 shot of gene therapy and children with congenital blindness can now see
Born with a retinal disease that made him legally blind, and would eventually leave him totally sightless, the nine-year-old boy used to sit in the back of the classroom, relying on the large print on an electronic screen and assisted by teacher aides.
Experimental treatments restore partial vision to blind people
Two experimental treatments, a retinal prosthesis and fetal tissue transplant, restored some vision to people with blinding eye diseases. The findings, presented at Neuroscience 2009, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news on brain science and health, may lead to new treatments for the blind.
Researchers discover mechanism that helps humans see in bright and low light
Ever wonder how your eyes adjust during a blackout? When we go from light to near total darkness, cells in the retina must quickly adjust. Vision scientists at Washington University School of Medicine in St. Louis have identified an intricate process that allows the human eye to adapt to darkness very quickly. The same process also allows the eye to function in bright light.
Cancer drug is no different in effectiveness as gold standard treatment for macular degeneration
Investigators from Boston University School of Medicine (BUSM) and the VA Boston Healthcare System have shown, at 6 months in a small group of patients, that there is no difference in efficacy between Bevacizumab (Avastin) and Ranibizumab (Lucentis) for the treatment of age-related macular degeneration (AMD).
Designing drugs and their antidotes together improves patient care
Imagine a surgical patient on a blood-thinning drug who starts bleeding more than expected, and an antidote that works immediately - because the blood thinner and antidote were designed to work together.
World's most sensitive astronomical camera developed at the Universite de Montreal
A team of Université de Montréal researchers, led by physics PhD student Olivier Daigle, has developed the world's most sensitive astronomical camera.
MIT retinal implant could help restore some vision
MIT engineers have designed a retinal implant for people who have lost their vision from retinitis pigmentosa or age-related macular degeneration, two of the leading causes of blindness.
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