Gene variant increases risk of blindness

The initial studies were carried out by a team of researchers led by Professor John Yates (Cambridge) and Professor Tony Moore (UCL Institute of Ophthalmology).

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.

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 found that a variant in the complement C3 gene influenced the risk of developing AMD. For the 30 per cent of the population who carry one copy of the so-called 'fast' variant the risk of AMD was increased by 70 per cent, and for the four per cent of people with two copies of the 'fast' variant the risk of AMD was more than doubled.

The results of this research, funded by the Medical Research Council, 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.

To find out more about Professor Moore's work, use the link at the top of this article.

Image 1: A diseased eye

Image 2: Professor Tony Moore