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Improving the diagnosis of macular disease

Grant Family Fund support is allowing Dr Alexis Ceecee Britten-Jones to research a way to ensure people with rare inherited macular dystrophies receive the right treatment for them in future.

Rare inherited macular dystrophies are often misdiagnosed as the far more common age-related macular degeneration (AMD), because they can appear very similar on an eye scan.

In the past, this hasn’t been much of a problem, because there was no treatment for either atrophic AMD or these inherited conditions.

But now that researchers are developing new ways to treat both, it’s essential that patients are diagnosed quickly and accurately.

That’s why MDFA has awarded Dr Alexis Ceecee Britten-Jones a Grant Family Fund research grant — to improve the diagnosis of different types of macular diseases to help patients access these emerging therapies.

By getting people the correct diagnosis, we can then get them into the correct or the best treatments and clinical trials for their condition, and also prevent people from receiving the wrong treatments.

Dr Britten-Jones

“Why it’s important that we differentiate them is because the two conditions have very different genetic bases and genetic causes, which means they need different treatments.”

Although inherited retinal diseases — such as Stargardt disease and Best disease — and AMD may look very similar to a clinician, they have very different causes.

AMD is caused by a combination of different genes as well as environmental factors, or your lifestyle.

Inherited macular dystrophies, on the other hand, are caused by what Dr Britten-Jones describes as a “spelling mistake in the DNA that can be attributed to a single gene”.

While other researchers continue to work on gene therapies designed to correct these mistakes, Dr Britten-Jones and her team want to find a way to make sure everyone with macular disease can be diagnosed quickly and accurately so they can receive the right treatment for their condition once these treatments are available.

“At the moment, it can be difficult for every clinician to know exactly what specific features to look for to differentiate between the two conditions,” Dr Britten-Jones says.

“And therefore, because it’s hard to know what to look for, it can be hard for the clinician to know who’s appropriate to send for further genetic investigations, especially in these cases where they might present what we consider as atypical for either condition, and the diagnosis may not be very clear cut.”

In this project, Dr Britten-Jones is recruiting patients who’ve been diagnosed with an atypical form of macular disease, then using genetic sequencing to investigate who might actually have an inherited macular dystrophy.

Dr Britten-Jones will then use those patients’ eye images to investigate what specific characteristics differentiate these rare macular dystrophies from the more common AMD.

The findings will ultimately help develop a set of criteria for clinicians to improve their diagnosis of macular diseases and ensure that every patient receives the right treatment for their condition in the future.

Accurate diagnosis isn’t just important for referring patients for the correct therapy — it also allows us to understand just how prevalent these conditions are.

Knowing how many people live with inherited macular diseases helps bring emerging treatments to Australia, by showing how many people would benefit from them.

“Really importantly, we wanted to make sure that these patients didn’t fall into the cracks, but also don’t get put into the wrong treatment either.”

Dr Britten-Jones has worked in clinical practice for eight years, and sees patients at the Australian College of Optometry every weekend.

But her main role is overseeing the VENTURE registry of inherited retinal diseases at the Centre for Eye Research Australia (CERA) and University of Melbourne.

Dr Britten-Jones has personally spoken to most of the 270 people on the VENTURE registry.

“So I’ve really seen the impact of vision loss, not only through my clinical work but in the lives of people with different types of macular disease. I’ve definitely seen how devastating vision loss can be for people — that’s what motivates me to the work that I do.

“Our ability to see plays such a big part not only in how we see the world, but also in our identity and who we are. And so for me, having worked as a clinician as well as in research, I really want to give hope to people and improve the lives of people with different types of vision loss and eye disease.”

Dr Britten-Jones admits that it’s difficult to find research funding for big-picture projects such as this.

That’s why she’s so grateful for the support of the Grant Family Fund, which has made this research possible.

First awarded in 2021 thanks to a generous bequest from the estate of the late Faye Grant, this funding provides grants to early-career researchers for innovative and creative ‘blue sky’ research in the field of macular disease.

“Eye disease affect so many people, but it can be harder to find funding for what we do. And it’s also harder to find funding as early-career researchers as well … especially blue sky, big projects for the future,” Dr Britten-Jones says.

Without this type of support, our ideas and our research ideas would just remain as ideas in our heads, they’d never get turned into research projects and then into new discoveries.

“And so the support is absolutely fundamental for us to be able to do the work that we do, to then learn new things about eye diseases, and then to find new treatments for them. And it’s really because of this support that we can turn the ideas in our head into reality.”

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Published: 13 December, 2023