Five years ago, someone diagnosed with an inherited retinal disease (IRD) would have been told that progressive and irreversible vision loss was inevitable.

And because their diseases were largely considered untreatable, little effort was put into researching the impact the disease would have on their sight or their prognosis over the longer term.

But rapid advances in technologies like gene and cell therapy mean that treatments to correct the problem and stop vision loss are now being trialled overseas and could soon become available.

While these treatments are potentially life-changing, researchers don’t yet know all the patients who could benefit or how to find them.

An additional challenge is that with more than 200 different genes associated with inherited retinal diseases, each treatment is targeted to specific genes, and many people with IRD do not have an exact diagnosis.

Tracking progress

To solve this problem, Dr Lauren Ayton is leading a group of 21 investigators from CERA and the University of Melbourne to identify, assess and track the estimated 16 500 Australians with IRD.

“We will bring people with a diagnosed IRD in for a comprehensive eye examination and genetic testing,” says Dr Ayton.

“This will allow us to create a database with information about their vision, their genetic profile and whether they’re interested in taking part in clinical trials.

“As new treatments come up, the patients will be ready to go.”

This research has another important outcome – a better understanding of the sub-types of IRD and how they progress.

“At the moment we have a limited understanding of the natural history of many inherited retinal diseases,” says Dr Ayton.

“By retesting people on our database every few years, we will be able to link the changes in their vision and eye health with their type of IRD.”

National effort

The Royal Victorian Eye and Ear Hospital and the Lions Eye Institute in Perth have started testing the first few hundred patients with plans to go nationwide.

“Our eventual goal is a national register, which would list everyone in Australia who could be eligible for a new IRD treatment,” says Dr Ayton.

“It’s an incredibly exciting time. Several ground-breaking new treatments, like gene therapy and stem cells, are being developed right here in Melbourne. Plus, we have the international expertise and collaborations required to build this database and natural history study.

“In a few years we’re going to be in an excellent position to make sure that anyone who’s diagnosed with IRD can access these exciting new treatment options.”

What is IRD and why do we need a register?

Inherited retinal disease is an umbrella term for a range of genetic eye diseases that cause retinal cells to stop functioning properly – including retinitis pigmentosa, macular dystrophy and a range of rarer genetic conditions.

Over time, the photoreceptor (light-sensing) cells can die, leading to vision loss and blindness.

More than 200 genes are known to be associated with retinal diseases. These genetic errors can be passed down from parent to child, but this doesn’t always result in disease.

This means an inherited retinal disease can strike even when there is no known family history of it.

The aim of the national register is to better understand the natural history of IRD, identify patients who might be eligible for clinical trials and create a central repository of de-identified information on the types of IRDs in Australia.

The register will include a patient’s genetic profile, clinical vision information and eye health data.

Anyone with IRD will be eligible to register, once it’s rolled out nationally. This will either be through their eye health provider or they can self-register here.