Perth eye specialist is seeing a new patient every week with a condition that can devastate vision, go undiagnosed for decades, and in some cases be associated with other diseases throughout the body. Yet most clinicians are still treating it as just an eye problem.
Associate Professor Fred Chen, Director of Research at the Lions Eye Institute and consultant ophthalmologist, has seen more than 600 cases of RP in Western Australia since 2015. He diagnoses 50 to 100 new cases every year, and believes the significance of diagnosing this condition is still under-recognised in the medical community.
Understanding retinitis pigmentosa
RP is a group of inherited eye diseases that leads to a slow deterioration in the light-sensing cells in the retina over years and decades. The earliest sign is often difficulty seeing in dim light, followed by a gradual narrowing of peripheral vision and sensitivity to light. In some cases, RP can lead to complete blindness. There is currently no cure, with only one genetic type of RP that has an approved gene therapy. Several clinical trials for RP treatments are underway, but none have yet been approved for routine use.
Because RP can masquerade as other conditions and carry serious implications, the stakes of a missed or delayed diagnosis extend well beyond vision.
New Australian research has found that patients with inherited retinal diseases wait an average of 23 years between their initial clinical diagnosis and receiving genetic testing, a gap that can delay access to specialist care and clinical trials.¹
“Many clinicians do not recognise the link between patients’ systemic diseases and their RP,” Associate Professor Chen said. “Some people with RP present with congenital hearing loss followed by visual symptoms decades on, whilst others experience visual symptoms first, with associated systemic disorders only emerging over time.”
RP can also mimic other eye diseases, including glaucoma and inflammatory eye diseases, or it can be masked by cataract. Patients can be incorrectly managed as having another condition for decades before RP is recognised. With more than 100 genetic subtypes, RP ranges from very early-onset blindness to forms so mild that a person can live a relatively normal life.
How retinitis pigmentosa is impacting Issy Gray
Among those navigating that diagnosis is Issy Gray, a medical student who was in the final years of her degree when she noticed floaters and flashers in her vision. Within weeks, she received a diagnosis of RP with no existing treatments available for her specific mutation.
“I really wasn’t expecting it, and it threw a lot of doubt and uncertainty into my life. I was told my sight would gradually decline and that the doctor didn’t think I would have any functional sight in 30 years,” Issy said.
Issy was referred to Associate Professor Chen for further genetic assessment and says the care she has received has been a lifeline.
“During my first appointment, Associate Professor Chen advised that he didn’t think I would end up legally blind, so that was a positive. I have felt really supported since being under their care, and the amount of information I’m able to receive at each appointment has been very reassuring,” she said.
Issy’s condition is mild now and likely to remain so for the next decade, but her story reflects the uncertainty that comes with any RP diagnosis and the difference that specialist care can make. Others living with RP can face a very different future, one where vision loss worsens, driving ability is affected, and underlying conditions go undetected without the right support.
For her close friend and fellow medical student, Sharni Strong, watching Issy navigate that uncertainty has not been easy, and has moved her to act. She completed a clinical placement with the Lions Eye Institute during her studies and recently ran the HBF Run for a Reason half-marathon to raise funds.
“When Issy was diagnosed, it was devastating for her and for all of us who care for her,” Sharni said. “The Lions Eye Institute are leaders in genetic research for retinitis pigmentosa, which made them an obvious choice to support. Every dollar raised helps advance research or fund care for those who might otherwise go without.”
Why awareness matters
Associate Professor Chen says the increasing rate of referrals reflects growing awareness among ophthalmologists, but the broader medical community and the public still have a long way to go.
“Issy’s experience reflects what many people with inherited retinal disease face: uncertainty and long-term impact. At the Lions Eye Institute, our clinical care and research are closely linked. It is this kind of support that helps us maintain our progress towards better treatments,” said Associate Professor Chen.
You can support the research and care that gives people like Issy hope in several ways. Community fundraising and direct donations play a vital role in helping drive sight-saving research and patient care. Learn more about how you can get involved.
¹ Britten-Jones AC et al. Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis. Genes (Basel). 2025 Jul 27;16(8):888.
About the Lions Eye Institute
For more than 40 years, the Lions Eye Institute has been at the forefront of global vision research and innovation, transforming the lives of patients through pioneering treatments. The Institute’s dedicated team of experts provides safe, effective and world-class eye care across Western Australia. To date, the Lions Eye Institute has delivered more than one million consultations, supporting its mission to achieve better vision for all.
