Shared with permission after originally published here.

Jane Cherry’s path to being diagnosed with retinitis pigmentosa was rapid and unexpected.

“I was diagnosed at the end of 2019,’’ says Jane.

“I knew from my early 20s I couldn’t see well at night, but I’d never heard of retinitis pigmentosa so couldn’t make the connection as to why.”

“No-one in my family had the disease so I was completely shocked by the diagnosis. I didn’t know what it was or what would be next for me.’’

Jane was 32 when she was diagnosed but unlike many others with inherited retinal disease, the diagnostic process was relatively swift.

After initial investigations by an ophthalmologist, she was referred to the Ocular Genetics Clinic at the Royal Victorian Eye and Ear Hospital for genetic testing, which revealed she had retinitis pigmentosa.

About IRDs

Retinitis pigmentosa is part of a group of genetic eye diseases which are collectively known as inherited retinal diseases (IRDs).

IRDs are caused by genetic mistakes which damage the light-sensing cells of the retina at the back of the eye, leading to progressive, irreversible vision loss. So far over 300 genes have been associated with this damage.

Less than a decade ago, someone with an IRD would be told to prepare for a future of declining vision and, because IRDs were considered ‘untreatable’, little research was done into how they progressed.

However, in recent years, advances in genomic research have enabled more people to find out what is causing their vision loss.

And rapid advances in gene therapy research and other innovative therapies are providing hope that new treatments will become available to stall vision loss and restore sight.

Invaluable diagnosis

Jane – who now serves on the Board of Retina Australia and the Retina International Youth Council – says receiving a genetic diagnosis was invaluable.

“I felt so much better once I had a genetic diagnosis and all of the details explained to me by my genetic counsellor – and I am grateful because I know not everyone with an IRD has access to testing or the ones who do aren’t guaranteed a clear genetic diagnosis.”

“Knowing what I had didn’t necessarily change the outlook for me – but it did arm me with more information to think about what the future might look like.’’

Jane is one of more than 250 Australians taking part in the Victorian evolution of inherited retinal diseases natural history registry (VENTURE study) – a collaboration between CERA and University of Melbourne.

The study – led by Associate Professor Lauren Ayton, Head of the Vision Optimisation Unit at the University of Melbourne, and Dr Tom Edwards, Principal Investigator Retinal Gene Therapy at CERA – aims to drive research into IRDs and give more people with the condition the opportunity to take part in research.

Holistic approach

VENTURE takes a holistic approach to improving understanding of IRDs, how they progress and the impact of living with the disease.

Participants have an examination which includes testing the function and taking images of their retina and asking them about their vision. Those who have not undergone genetic testing have the option to do this if they wish.

The VENTURE team works closely with CERA’s Retinal Gene Therapy Unit, which conducts clinical trials of gene therapies and other innovative new treatments for retinal diseases.

Currently, the team is running clinical trials for retinitis pigmentosa (Usher Syndrome) and Stargardt’s disease, testing an investigational gene therapy for dry age-related macular degeneration and planning upcoming trials for other IRDs. They are also currently running an industry-sponsored natural history study for achromatopsia.

VENTURE works closely with patient advocacy groups to better understand how people with IRDs and their families can be supported to make informed choices about genetic testing, trial participation and treatment.

In 2021, Associate Professor Ayton and Associate Professor Heather Mack led a survey to gauge how well those in the IRD community understood the potential of gene therapies and their views on genetic testing, treatment cost and clinical trial participation.

Survey findings will be used to design targeted support and education for people with IRDs and eye health professionals.

Know your code

Associate Professor Ayton says patient registries such as VENTURE are becoming increasingly important, as many emerging treatments depend on knowing the genes that cause vision loss.

So far over two-thirds of VENTURE participants have received genetic diagnoses, which will enable the team to link them to trials of new therapies.

Jane Cherry says that as research accelerates, studies that combine natural history, clinical research and consumer engagement will be critical.

“Natural history studies are so important, especially for rare diseases, so we can build an understanding of how they are likely to progress over time,’’ she says.

“The point of diagnosis can be a very difficult time for you, your family and friends. When you have a rare disease, knowing where to find relevant information, the supports available, understanding the benefits of genetic testing and awareness of emerging research are vital.’’

Project funding

The VENTURE study is supported by the National Health and Medical Research Council, University of Melbourne Driving Research Momentum Fellowship, Melbourne Medical School and CERA strategic grants and philanthropic funding from Retina Australia, the CASS Foundation and Angior Family Foundation.