New blood test a hope for incurable eye disease

Test could save the sight of millions world-wide


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SAVING SIGHT: Dr Riccardo Natoli from the John Curtin School of Medical Research and ANU Medical School is developing a blood test to diagnosis dry age-related macular degeneration much earlier. Photo: Lannon Harley ANU

SAVING SIGHT: Dr Riccardo Natoli from the John Curtin School of Medical Research and ANU Medical School is developing a blood test to diagnosis dry age-related macular degeneration much earlier. Photo: Lannon Harley ANU

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Jan James helped the blind, now she's losing her sight.

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JAN James spent her career helping the blind – recently she was told she too was losing her sight.

The 78-year-old Canberran has dry aged-related macular degeneration (AMD).

"My doctor told me: 'I'm sorry I have some sad news, there's no cure'."

Mrs James, 78, is starting to struggle with computer work and finds it difficult identifying numbers. She doesn’t drive at night and has moved to ground floor accommodation near a bus stop to combat future worries about her mobility.

"It's not holding me back at the moment I am just making the most of my sight. It's hard with AMD to gauge the speed in which it is going to accelerate."

NOT HOLDING BACK: Jan James was diagnosed with dry aged-related macular degeneration. Photo Alex Ellinghausen

NOT HOLDING BACK: Jan James was diagnosed with dry aged-related macular degeneration. Photo Alex Ellinghausen

Dry AMD is a common eye disorder that is caused by damage to the macular - the part of the eye that is responsible for our sharpest vision.

It can takes years for signs of dry AMD to be found in the eye and often by the time it is diagnosed the disease is irreversible.

However, a new blood test is being developed at the Australian National University (ANU) that can detect patients at risk of dry AMD much earlier and potentially save millions of people from going blind.

"The detection mechanisms we currently have for dry AMD happen too late," said lead researcher Riccardo Natoli from the John Curtin School of Medical Research and ANU Medical School.

"Once dry AMD starts there is a threshold tipping point and once a patient gets over that point there is nothing that can be done to save their sight.

"By the diagnosis stage, you look at the back of the eye and you already see that photoreceptors, the light sensing cells of the eye, are starting to die."

Researchers used a light model, thought to be the first of its kind, to better understand how the deterioration of the retina's photoreceptor cells in the macular.

"From our modelling we noticed an inflammatory response was happening as a consequence of the damage," said Dr Natoli.

"We are focusing on early diagnosis and early treatment strategies that slow down the inflammatory response to see if we can slow the progression of the disease."

The ground-breaking research is backed by the Translational Fellowship Program and Beta Therapeutics that has teamed up with ANU to start testing drugs to slow the inflammatory response down.

"The macular is the part of the retina that helps you see the grooves on your fingerprints. It is only 5.5 mm, so if an area equivalent to the size of a pin head starts dying - it renders you legally blind," said Dr Natoli.

"Once that's lost, there is no repairing it.

"By looking at these photoreceptor molecules in the macular and understanding how they function, we will be able to early predict or diagnose a patient that is having systemic inflammatory responses.

"Combined with predisposition genetic information, we hope to be able to predict people who are at high risk and start treating before the disease presentation even eventuates."

Dr Riccardo Natoli says he wants to save the sight of millions of people like Mrs James.

"There are 200 million people around the world that suffer with AMD and our hope is to try and slow the progression of vision loss allowing more people in our global community to share in our wonderfully beautiful visual world," said Dr Natoli.

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