Research Impact


Genetics of eye disease

12 December 2014


Researchers at the UCL Institute of Ophthalmology have identified many genes which cause inherited retinal disease. These are now used around the world in diagnosis, genetic counselling and to inform decisions about treatment and clinical trials.

Inherited retinal disease affects around one in 3,000 individuals, and in most cases, the disease progresses relentlessly with no effective treatments currently available. Many of these conditions have an early age of onset and lead to lifelong visual loss.

Over the last 20 years, researchers at the UCL Institute of Ophthalmology, including Professors Shomi Bhattacharya, Alan Bird and Tony Moore, have identified more genes that cause eye disease than any other centre in the world. The huge patient base at Moorfields Eye Hospital and its role as a national referral centre for inherited eye disease, together with an extraordinary body of work defining the pedigrees of thousands of families (including 30,000 individuals), have come together to make this achievement possible.

These genes have been incorporated into diagnostic tests, which have allowed molecular diagnosis, improved genetic counselling including pre-natal/pre-implantation diagnosis, better information about prognosis. As explained in guidelines issued by the American Academy of Ophthalmology, "Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counselling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate the development and delivery of mechanism-specific care."

As yet, the ability to treat these disorders is very limited, but through its elucidation of the mechanisms of disease, genetic work done at the institute is laying the foundations for development of new therapies, including gene therapy. Since the mid-1990s under the leadership of Professor Robin Ali, researchers have developed the technology for gene therapy of eye disease, leading to the first demonstration that gene therapy can improve retinal function in human inherited retinal disease. These transformational studies have captured the imagination of the scientific community, the media and politicians alike.

A major achievement for British science and the NHS [which] shows we truly are at the forefront of innovation. - Minister of State for Public Health