Moorfields expands its genetics services to tackle inherited eye disease

Moorfields is expanding its genetics services as part of its efforts to improve access to testing, counselling and clinical trials for patients and families with inherited eye disease. The genetics service, one of the largest in Europe, will run as a standalone service to encompass all patients with a possible genetic cause of their condition.

The burden of inherited eye disease leading to sight loss is significant. Birth eye defects account for around 20% of sight impairment certifications among children in the UK, while inherited retinal disease is the most common cause of blindness in working age adults.

Inherited eye disease is caused by a change in our genetic code, a set of instructions for the growth and development of every cell in our body. This may result in a genetic disorder that can be passed on to a child by his or her parents.

Dr Mariya Moosajee, consultant ophthalmologist at Moorfields Eye Hospital said:

“We are currently undergoing a revolution in genetic diagnosis within the NHS. For the first time, we are now able to perform a genetic test which allows us to read all three billion letters of our genetic code. This is helping us to diagnose rare diseases and identify some of the risk factors associated with them.”

In December 2017 the first gene therapy for inherited eye disease was approved in the United States to treat people with sight loss caused by changes in the RPE65 gene which is associated with inherited retinal diseases, including retinitis pigmentosa and leber’s congenital amaurosis. The therapy is now being assessed by the National Institute for Health and Care Excellence to allow it to be available on the NHS.

Dr Moosajee believes that ophthalmology has now entered an era in which treatments are a possibility for patients with inherited eye disease.

“Over 250 genes have already been associated with inherited retinal disease and nearly as many for non-retinal diseases. Once we understand the genetic causes, a real focus on developing new treatments can be made to prevent sight loss.”

Watch a video about genetic testing

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