New genetic marker for Age-related Macular Degeneration (AMD)

Available for: Exclusive/Non-exclusive licensing


AMD is the most common cause of irreversible vision impairment in the Western world and susceptibility to it is influenced by age, environmental and genetic factors. There is currently no cure for AMD and all the efforts concentrate on managing symptoms and early detection and treatment of AMD significantly reduces vision impairment. Most patients are diagnosed at advanced stages of the disease, while genetic testing could assist prediction and medical intervention before the disease progresses. Genetic risk prediction tests are available on the market but the known loci vary in their association with risk making it hard to definitely establish how likely it is for the patient to develop the disease. Researchers at the UCL Institute of Ophthalmology have now identified new sequence variants which can improve the risk prediction accuracy allowing better counseling, helping patients to make the necessary lifestyle changes and therapy before significant vision loss.

The Technology and its Advantages

Several sequence variants in the complement pathway genes are known to be associated with increased or decreased risk of developing AMD and are already used in AMD genetic tests available in Europe and the US. These tests, however, do not account for all the genetic influence on risk of developing AMD and need improvement. The researchers at UCL Institute of Ophthalmology have identified new sequence variants on chromosome 6 associated with increased risk of developing AMD. These sequence variants show association to the two later forms of AMD: geographic atrophy (GA) and choroidal neovascularisation (CNV). CNV is also seen in other conditions than AMD such as polypoidal choroidal PCV. The new sequence variants can be incorporated into the current genetic risk prediction tests for AMD to improve their accuracy as well as be used for identifying risk profile in other conditions caused by CNV.

Market Opportunity

According to WHO, AMD is the leading cause of adult vision loss and in 2010 affected over 7.5M people in the seven major markets (US, Japan, France, Germany, Italy, Spain and the UK). There is currently no cure for AMD and all the medical efforts concentrate on slowing down the progression of the disease. Often changes to the patient’s lifestyle are recommended to minimise and slow the vision impairment process and for this reason early diagnosis and detection of risk is essential. Genetic tests for AMD are marketed in Europe and US but their accuracy needs improvement.

Intellectual Property Status

The new sequence variants indicating AMD risk are patent pending (WO2013124659).

Further Information

Please contact Dr Wesley Randle , Senior Business Manager | T: +44 (2) 20 7679 9000 | E:

The technology referred to herein is experimental in nature and UCL Business PLC makes no representations and gives no warranties of any kind, either express or implied, in relation to the technology and, in particular but without limiting the foregoing, UCL Business PLC gives no express or implied warranties of merchantability, satisfactory quality or fitness for a particular purpose.