Real-world evidence driving personalised eye care

Mr Anthony Khawaja | GR000131

13 January 2020

a lit light bulb in a darkened room, surrounded by falling golden confetti

Glaucoma is the second leading cause of blindness globally, but its causes remain unclear. We’re funding a research programme that will analyse the genetics behind glaucoma, helping us to better understand the risk factors associated with glaucoma and how we can treat it more effectively.

The challenge

Even though glaucoma is the second leading cause of blindness globally, the causes of the most common form remain unclear.

Glaucoma patients are still developing blindness despite current treatments. We are unable to predict which treatments work for individual patients and which patients are at the highest risk of blindness.

What is glaucoma?

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Glaucoma is an eye condition where damage to the optic nerve causes sight loss. It is usually caused by the pressure inside your eye rising too high.

Your eye is full of fluid, which helps it to keep its shape and function properly. If too much fluid builds up inside the eye, the pressure rises and squeezes the optic nerve at the back of the eye.

This can cause damage to your optic nerve - a bundle of over a million nerve fibres that carry signals between your eye and your brain.

Pressure might build up in your eye when:

fluid is stopped from draining away
extra fluid is produced after an eye injury or infection - this is called ‘secondary glaucoma’
there is an abnormality in the shape of the eye in children - this is called ‘congenital glaucoma’

Glaucoma tends to develop slowly over many years. As there is currently no cure for glaucoma, treatment focuses on early diagnosis, careful monitoring and regular treatment to help prevent further sight loss.

9 in 10

people diagnosed with glaucoma today who get the treatment they need will retain useful sight for the rest of their lives

It is not currently possible to repair the optic nerve once it has been damaged, so any vision lost to glaucoma cannot be recovered. If left untreated, glaucoma can lead to blindness.

There are usually no symptoms of a rising pressure in the eye until sight loss occurs, so regular eye tests are the best way to help spot the condition early.

Finding a solution

Anthony Khawaja is supported by the Moorfields Eye Charity Career Development Award, which helps researchers and professionals to become future leaders of ophthalmic research and clinical practice.

He will be undertaking an ambitious research programme to address three of the top research questions for glaucoma, as identified by a national consultation of patients, carers, relatives and eye health professionals:

What are the most effective treatments for glaucoma?
What causes glaucoma?
How can glaucoma patients with a higher risk to progress rapidly be detected?

By analysing millions of genetic markers in over 100,000 people in the UK Biobank study, we can discover which genes control intraocular pressure, a critical risk factor for glaucoma.

Also, by analysing these genetic markers in current trials of glaucoma patients, we can discover the genes that determine whether patients respond well to specific treatments and how quickly their vision will deteriorate.

The potential

Understanding the genetics of treatment response and progression can drive precision medicine for glaucoma.

This improves patient quality of life by reducing side effects and the risk of blindness. It also benefits healthcare providers by reducing monitoring burden and directing resources to the patients that most need it.

The proposed research will help identify new potential ways to treat glaucoma and help us achieve the goal of precision (personalised) medicine for glaucoma.