Southampton eye expert uncovers effective treatment for rare genetic condition

Professor Andrew Lotery

A leading eye expert based at Southampton’s university hospitals has saved the sight of two patients through a groundbreaking use of the drug Avastin.

Professor Andrew Lotery, a consultant ophthalmologist at Southampton General Hospital’s eye unit and a professor of ophthalmology at the University of Southampton, is using the drug to treat Sorsby’s Fundus Dystrophy (SFD), an early onset form of macular degeneration.

The rare genetic condition meant the two patients, who are both in their 30s, suffered blurred vision and a general deterioration of sight.

Avastin, which halts the growth of blood vessels and stems bleeding, is commonly injected into the eyes of patients with 'wet' age related macular degeneration (AMD) – the leading cause of blindness in the western world in people over 50.

When used to treat ‘wet’ AMD, where new blood vessels grow in the retina and bleed, causing scarring and permanent loss of vision, approximately 90% of patients see stabilisation of vision and 30% of patients see their vision recover. 

Prognosis in SFD is very poor, as patients lose central visual function in the fourth or fifth decades of life mainly because of the development of new blood vessels in the eye, and it is known patients respond poorly to conventional treatments.

Professor Lotery, whose findings have been accepted by US journal Retinal Cases & Brief Reports, said: “As patients in the past have not responded well to treatments for SFD and because the mutations that lead to the condition are still not yet fully understood, we wanted to investigate other methods of treatment, including the use of bevacizumab (Avastin).

“We have discovered that the drug has prevented loss of sight and improved vision in the younger patients suffering from SFD over a long period and this is an exciting new treatment for what is a rare condition affecting young people.”

Professor Lotery is an internationally renowned eye specialist and is at the forefront of clinical research into AMD, leading a lab team in 2008 that identified a major new genetic association with AMD – SERPING1 – which is faulty in up to 25% of sufferers.

His research team need to secure £2.5 million in funding over the next five years to continue their world-class research into the prevention and treatment of blindness and will rely heavily on charity the Gift of Sight appeal, which was established in 2004 to raise money for research into complex eye disease. To find out more about Gift of Sight, visit www.giftofsight.org.uk .

Posted on Tuesday 16 March 2010