An eye to the future using AI

Researchers at the Lions Eye Institute are partnering with Google to deliver Australian-first research using artificial intelligence (AI) solutions to detect blindness and eye disease earlier in Indigenous Australians.

Diabetic-induced vision loss is 14 times more common in Indigenous people than non-Indigenous, and diabetes itself is three to five times more common across all ages in the Indigenous population.

A common cause of vision loss is due to diabetic retinopathy – a disease that creates lesions in the back of the retina that can lead to blindness.

With early detection and treatment, blindness can be prevented, but unfortunately this illness can go undetected if patients do not undergo screening. This is a growing health concern, particularly as access to doctors and healthcare services can be limited in rural and remote areas.

In response, the Lions Eye Institute has collaborated with Google to research artificial intelligence (AI) solutions to make screening more accessible and efficient, aiming to detect eye disease earlier for the patient.

Led by Associate Professor Angus Turner, a Western Australian ophthalmologist based at the Lions Eye Institute and the McCusker Director of Lions Outback Vision, the research is working to understand how the technology can be applied in a real-world setting.

Associate Professor Angus Turner conducting a patient’s eye assessment

“Diabetic retinopathy screening represents one of the earliest and most well-developed use cases for AI technology. Research like this is critical to understanding its role and potential in a clinical setting.”

Associate Professor Angus Turner

The Lions Eye Institute conducted a retrospective study with Derbal Yerrigan Health Service in Western Australia using anonymised data to validate the performance of Google’s AI model to detect diabetic retinopathy within the local Indigenous population.

Retinal cameras with in-built AI were trialed, which had the ability to provide instantaneous results without the need to transfer pictures or wait for human analysis. This also further supported the camera operator to more efficiently interact with the patient and share results for better patient understanding.

The AI is capable of detecting more than just eye problems. It can also pick up issues with the heart and lungs meaning a multitude of diseases can be screened for with one visit. Video telehealth with a specialist can also be initiated immediately if a disease is identified that needs treatment explained and arranged.

A paper on the study was published in the British Journal of Ophthalmology (BJO) in February 2023, which found that the machine learning model performed on-par with a retinal specialist.

“The findings have promising implications for validating algorithms in diverse populations, which is of critical importance for those that suffer disproportionately from diabetes-related complications.”

Associate Professor Angus Turner

Around the world, Google’s AI system is already assisting clinicians and community health workers screen for diabetic retinopathy, and is deployed in India and Thailand.

Moving forward, the Lions Eye Institute team is hoping to fit out two vans with the new retinal cameras to travel to smaller communities in the Pilbara and Kimberley, as these areas are not able to be accessed by the existing large Vision Van due to remoteness and unsealed roads.

Protecting children receiving chemotherapy from hearing loss

Researchers at Ear Science Institute Australia have developed a novel nano-gel therapy to protect children receiving chemotherapy from hearing loss – a common side effect of the cancer treatment.

The project which involves testing the nano-gel in a new study is led out of Ear Science Institute Australia and supported by funding from the Channel 7 Telethon Trust.

A much-needed preventative approach

Lead researcher, Associate Professor Hani Al-Salami, said about half of children who go through chemotherapy will have some degree of permanent hearing loss due to toxicity of the drugs.

“There is currently no proven prevention or cure for this hearing loss, so this new research will test the effectiveness of a nano-gel that is injected into the ear before chemotherapy to prevent the possible side effect of cancer treatment among children,” Associate Professor Al-Salami explained.

“The nano-gel has been developed in partnership with Curtin University by a group of clinicians, pharmaceutical scientists, ENT (ear, nose and throat) surgeons, cochlea physiologists and synthetic chemists using cutting-edge technologies.

“Human bile extract is put through specialised systems to produce a gel, which is capable of being injected into the human ear. It can potentially protect children from the side effects of chemotherapy, which targets and destroys cancer tissues and can also kill other healthy tissues resulting in problems including hearing loss.”

Associate Professor Hani Al-Salami in the lab
Associate Professor Hani Al-Salami in the lab

Looking forward

Ear Science Institute Australia CEO, Sandra Bellekom, said it was a very exciting time for ear and hearing medical research in Western Australia.

“The Telethon grant will allow Ear Science to further develop an established and proven nano-gel, improving efficacy and making it safer for use in our children,” Ms Bellekom said.

The Channel 7 Telethon Trust’s support of Ear Science Institute Australia also includes funding for the procurement of a newly developed scanning electron microscope for use in the research, which is capable of micro and nano scale visualisation of critical features of the nano-gel.

Australian first gene therapy for childhood blindness

Two Sydney siblings have become the first patients in the country to receive a novel gene therapy that has rescued their vision and holds hope for preventing them from going blind.

The ocular gene therapy, LUXTURNA, is the world’s first approved gene replacement therapy for an inherited blinding eye condition and one of the first gene replacements for any human disease. Approved by the Therapeutic Goods Administration, LUXTURNA is used to treat children and adults with biallelic pathological mutations in RPE65, a rare mutation that leads to vision loss and blindness. It is being distributed in Australia by Novartis.

Therapy has stopped progressive vision loss

Seventeen-year-old Rylee and 15-year-old Saman were both diagnosed with Leber congenital amaurosis, a severe form of retinal dystrophy, in their first year of life. They received the life-changing therapy at The Children’s Hospital at Westmead in late 2020 and early 2021. The therapy has stopped their progressive vision loss and led to some improvements in their vision.

The therapy was delivered as part of Ocular Gene and Cell Therapies Australia (OGCTA), a new collaboration involving the Genetic Eye Clinic at Sydney Children’s Hospitals Network (SCHN), the Eye Genetics Research Unit and Stem Cell Medicine Group at the Children’s Medical Research Institute (CMRI), and the Save Sight Institute at Sydney Eye Hospital and University of Sydney.

CMRI’s Gene Therapy Research Unit

Revolutionary therapy

CMRI was represented on this project by Professor Frank Martin who is CMRI’s Board President, Professor Robyn Jamieson, Head of the Eye Genetics Research Unit at CMRI and SCHN and Dr Anai Gonzalez Cordero, Head of the Stem Cell Medicine Group and Professor Ian Alexander, Head of the Gene Therapy Research Unit and their teams.

Professor Jamieson is also lead of OGCTA and Head, Specialty of Genomic Medicine, University of Sydney. She said the therapy was revolutionary and would lead to transformation of care for patients with blinding eye diseases.

Professor Robyn Jamieson

“Inherited retinal disease is a devastating diagnosis. Up until now, these patients suffered progressive vision loss that led to blindness and there was no therapy for them at all.”

Professor Jamieson

“But through new genomic diagnostics and the use of ocular gene therapy, we are finding that we have the ability to not only stop this ongoing progression but also help to improve vision for people who have RPE65-related retinal vision loss.”

Children and adults born with a mutation in both copies of the RPE65 gene can suffer from a range of symptoms, including night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision, loss of sharpness or clarity of vision and potentially total blindness.

Replacing faulty genes

Ocular gene therapy works by injecting LUXTURNA under the retina and carrying a functioning RPE65 gene to replace the faulty one, thereby preventing some of these devastating symptoms.

luxturna Team – the team who delivered Australia’s first gene therapy for a blinding eye condition

“The real-world improvements in visual function has been quite remarkable bringing to life the rather dry clinical trials outcome measures,” said Professor John Grigg, Head of Specialty of Ophthalmology, Save Sight Institute, University of Sydney and lead inherited retinal disease specialist in OGTCA said.

“It is tremendously heartening to see the changes in vision capabilities for these first patients treated with LUXTURNA.”

Professor Grigg

“As an ophthalmologist who has been caring for patients with Leber’s amaurosis for many years and unable to offer any treatment, it is incredibly rewarding to now have the opportunity to not only give families hope but also be involved in improving their child’s vision,” said Frank Martin, Clinical Professor in the Specialties of Paediatrics and Child Health and Ophthalmology at the University of Sydney said.

Associate Professor Matthew Simunovic, Vitreoretinal Surgeon, Sydney Eye Hospital and SCHN and Associate Professor at the Save Sight Institute, University of Sydney performed the first surgery and said the benefits of treatment should extend well into the future.

“This is incredibly delicate surgery in which LUXTURNA is injected under the retina, which in some patients can be as thin as a sheet of copy paper. Riley and Saman have had profound improvements in their vision, which mirror the results seen in the pivotal clinical trials.”

“Importantly, such benefits appear to be sustained for many years – in fact, for as long as patients have been followed up. Successfully delivering the first approved gene therapy has been a fantastic team effort, and it underscores Australia’s capability in this field.”

A/Prof. Simunovic

To date, this treatment has been used to treat four patients and while it can only be used to treat this specific form of retinal disease, it does provide significant hope that similar treatments will be able to be applied to other retinal disease genes in the future.

“This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them and provides hope for more than 15,000 other affected Australians who live with some form of inherited retinal disease,” Professor Grigg said.

Read more about this story on ABC News.

Vitamin B3’s promise in slowing glaucoma progress

Promising results in CERA’s pioneering study into the role of vitamin B3 in slowing the progress of glaucoma has sparked plans for a large international trial.

The results of a world-first study, led by former CERA Managing Director Professor Jonathan Crowston and Research Fellow Dr Flora Hui, were published in Clinical & Experimental Ophthalmology in July 2020.

They showed improvement in the visual function of glaucoma patients who received a daily high dose of 3 grams of nicotinamide for 12 weeks in addition to their regular treatment to reduce eye pressure.

Following strong interest in the results, Dr Hui was named as the recipient of Glaucoma Australia’s Quinlivan Research Grant.

The $200 000 funding will be instrumental in supporting the next phase of Dr Hui’s research along with CERA Managing Director Professor Keith Martin and international collaborators including Professor Crowston (now at Duke NUS-Medical School Singapore), Professor Robert Casson from the University of Adelaide, Associate Professor Pete Williams from the Karolinska Institutet, Sweden and Associate Professor Gauti Johannesson from the Umeå University, Sweden.

Dr Flora Hui examining a patient. Credit: Anna Carlile

Protecting nerve cells

Glaucoma is the world’s leading cause of irreversible blindness, affecting more than 60 million people worldwide.

The disease, which leads to vision loss when cells in the optic nerve and retina are lost, is usually treated with eye drops or surgery to reduce eye pressure. However, there are currently no treatments to protect cells from further damage or to improve cell function.

“For the first time, we were able to show that daily high doses of vitamin B3 can lead to early improvements in patients who are also receiving traditional treatments to lower eye pressure.”

Dr Hui

“Our follow-up study will help us determine if vitamin B3 should be taken on an ongoing basis by glaucoma patients,” said Dr Hui

Dr Flora Hui is set to conduct further research to determine if vitamin B3 can slow the progression of glaucoma.

About the trial

CERA’s initial trial followed 57 patients, all of whom received both placebo and vitamin B3 over the course of the study.

The visual function of patients was tested using electroretinography, a diagnostic test which measures electrical activity in the cells of the retina, and visual field testing to determine any changes that occurred.

The trial found that in some people, high-dose nicotinamide improved how nerve cells were functioning in the eye. The follow-up trial will assess whether these improvements can help reduce disease progression over a longer period.

Earlier pre-clinical research in the US showed that vitamin B3 could prevent optic nerve degeneration – but this was the first time similar results have been witnessed in a human trial.

Dr Hui says the findings provide hope of a treatment that could protect nerve cells and damaged cells to function better.

“Like adding oil to a car engine to allow it to run smoothly, vitamin B3 could be used to protect cells from damage and help those that have been affected by glaucoma work better.”

Research supporters

Dr Hui and Professor Crowston’s initial research was supported by the Jean Miller Foundation, Connie and Craig Kimberley Foundation, the Ophthalmic Research Institute of Australia, Jack Brockhoff Foundation, Marian and EH Flack Trust, Fund and Board of Research Faculty (Karolinska Institutet).

Dr Hui is grateful to receive Glaucoma Australia’s Quinlivan Research Grant which will help support the next phase of her research.

Djaalinj Waakinj leads to better hearing – and happier kids

More than 150 children are currently enrolled in an innovative program led by Telethon Kids Institute that is helping slash waiting times for Aboriginal children suffering from potentially debilitating ear infections.

The project – based in Perth’s south – is a unique clinical research program which focuses on early intervention to diagnose and fast-track treatment of children with middle ear infections (otitis media) to prevent hearing loss.

Ear health a priority

More than 150 children are currently enrolled in the project, which has dramatically reduced waiting times to allow children to have their ear problems checked within days.

Dr Chris Brennan-Jones, Head of Ear Health at the Wesfarmers Centre of Vaccines and Infectious Diseases, based at Telethon Kids Institute, said there was a clear need to prioritise early testing and treatment for Aboriginal children suffering otitis media (OM). 

“Some children spend over two years on waiting lists for treatment of ear infections. That’s too long for children who are in crucial stages of language, behavioural and educational development.”

Dr Brennan-Jones

“Working with the local Aboriginal community, the Djaalinj Waakinj (listening and talking) Ear Portal Program was established to address this gap. It ensures access to early diagnosis and intervention – within days instead of years – by reducing unnecessary travel and waiting times.”

Middle ear infections in Australia are common among children, but they disproportionately affect certain groups. A Telethon Kids study found that young Aboriginal children are at increased risk of developing middle ear infections compared to non-Aboriginal children.

The Djaalinj Waakinj (listening and talking) Ear Portal Program is a telehealth-driven clinical research program which uses technology to remotely diagnose and prioritise treatment of children with otitis media to prevent hearing loss.

Hearing loss caused by untreated OM is a lifelong burden, with the impact on lost wellbeing (due to unemployment, impacts on mental health and quality of life) estimated to cost $17.4 billion per annum in Australia.

Providing access for Aboriginal families

Val Swift, Aboriginal Cultural Governance Advisor at Wesfarmers Centre of Vaccines and Infectious Diseases said the program was aiming to make sure no child in the local community starts school with preventable or treatable hearing loss.

“There is an assumption that living in metropolitan Perth means you can access medical services without restrictions. But that isn’t the case for many Aboriginal families,” Ms Swift said.

“By working with the community to design and deliver the program, we’re ensuring the cultural security of the program so families feel safe and comfortable to participate. We’re making this a service they can access without restrictions.”