Genetic Keys To Age Related Macular Degeneration

Age Related Macular Degeneration (AMD) is the leading cause of blindness in the UK. This condition strikes those over 50 and blinds some 43,000 people a year in the UK alone and current treatment options are limited.

In 2009, BCPB supported Professor Lotery and his team at Southampton University to look at the possible genetic basis of AMD. They examined the genes linked to the disease and made findings which are likely to result in new treatments. Their work helped to confirm that there is a genetic link to the disease. In fact, the disease has a genetic cause in up to 75% of cases. Professor Lotery’s findings suggested that there maybe a link to the body’s immune response and tolerated inflammation.

The research indicated that a particular genetic protein whose job it is to put the brake on this inflammation may be faulty in many people who go on to develop AMD. They confirmed that the complement factor H gene is an important cause of AMD and began to look at how having this faulty gene influences response to treatments available now. People with the faulty gene have different forms of wet AMD and seem to respond differently to laser treatment. The findings need to be confirmed in larger studies, but suggest that testing patients for these gene changes may be useful in the future. Modern advances in gene testing technology make this feasible. New treatments for wet AMD have been in the news recently, with two drugs being of particular interest – avastin and lucentis. Dr Lotery and his team are part of a large multi-centre trial which will compare these two drugs to see which is better for patients. As part of the trial they also aim to take blood samples from patients having these treatments to identify which faulty AMD genes the patients have inherited. They aim to see if there are differences in response to treatment depending on the genes which the patients carry. This could result in customised treatments for patients, depending on their genetic background.

An update about this work will be added soon