cataract

• Patients need education on future gene therapies

  Research

  Patients need education on future gene therapies

  Australians with inherited retinal disease (IRD) have a strong interest in undergoing gene therapy to prevent and treat blindness – but there’s a critical need for education programs to help them make informed choices about future treatments.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  That’s the key finding of new research, led by the Centre for Eye Research Australia and University of Melbourne, published today in Gene Therapy.

  The study reveals the results of the first national survey asking Australians living with IRD and their carers about their knowledge and views on gene therapy.

  IRD is the umbrella term for broad group of genetic eye conditions – including retinitis pigmentosa and Stargardt’s disease – that cause progressive vison loss and blindness. They are the most common cause of blindness in working-age Australians, affecting more than 13,000 people nationally.

  Led by Associate Professors Heather Mack and Lauren Ayton, the new study provides new insight into patients’ knowledge of emerging gene therapies, the methods used, their willingness undergo future treatments and their views on the potential costs and logistics.

  Associate Professor Ayton said: “Until recently, someone diagnosed with an IRD would be told their condition was incurable and advised to prepare for a life of progressive, irreversible vision loss.

  “But rapid advances in gene therapy are for the first time offering the potential of treatments that will stall, or even reverse vision loss. There is now an approved gene therapy for a rare form of retinitis pigmentosa and there are multiple clinical trials of gene therapies for other genetic eye conditions underway around the world.

  “It’s essential that patients have the information they need to make informed choices in the future.”

  

  Researchers Nicole Tindill, Dr Myra McGuinness, A/Prof Heather Mack, Dr Cee Cee Britten-Jones and A/Prof Lauren Ayton.

  An estimated five per cent of Australians with IRD, almost 700 people, completed the survey. Key findings included:

  • 92 per cent said they would be interested in having a gene therapy if one became available for their condition in the future
  • Less than a third (28 per cent) said they had a good understanding of gene therapies
  • More people (49 per cent) got their information about gene therapy from the Internet than their ophthalmologist (37.9 per cent)
  • 60 per cent identified one or more barriers to receiving gene therapy including out-of-pocket costs (30.5 per cent) or fear of side effects (27 per cent)
  • 79 per cent said a government subsidy for gene therapy was a good use of taxpayer money but less than half believed the government or private health insurance should pay all of the costs.
  • More than three-quarters (77 per cent) would travel interstate for treatment.

   

  Associate Professor Mack said the findings demonstrated the need for continuing targeted education about the outcomes and risks of gene therapy and the difference between clinical research and approved treatments.

  “Education of both patients and eye care professionals will be critical to fill knowledge gaps and a lack of confidence in understanding treatment options,’’ she said.

  “This will require continually evolving education of both potential recipients of gene therapy and eye care providers as new technologies and treatments are rolled out.’’

  Read the study

  Mack, H et al. (2022) Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia. Gene Therapy https://doi.org/10.1038/s41434-022-00364-z

  Funding and support

  This research is funded by National Health and Medical Research Council and Retina Australia. The Centre for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government.

  CERA is grateful to the following organisations for helping distribute the survey to their members: Retina Australia, Vision Australia, UsherKids Australia, Cure Blindness Australia, and the Australian Inherited Retinal Disease Registry
  and DNA Bank.

  Media enquiries

  Janine Sim-Jones

  +61 420 886 511

  jsimjones@cera.org.au

  Related Pages

  ---

  News

  Venturing forward

  A registry gathering vital information on people with inherited retinal diseases will help drive research into the most common cause of legal blindness in working-age Australians.

  Read More

  Research

  Research survey seeks views on gene therapy

  Researchers from the Centre for Eye Research Australia and University of Melbourne are encouraging Australians with inherited retinal diseases (IRDs) to share their views on potential gene therapy treatments as part of a world-first survey.

  Read More

• Understanding female IRD carriers

  News

  Understanding female IRD carriers

  Research into X-linked inherited retinal diseases has often focused on men. Now, a study aims to ensure everyone benefits from emerging treatments.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  Inherited retinal diseases (IRDs), a broad group of genetic eye conditions caused by changes in a person’s genetic code, don’t always affect men and women in the same way.

  “A majority of female carriers of X-linked IRDs have a near-normal retina, while at the other end of the spectrum is quite severe disease, similar to what males with these conditions experience,” says Sena Gocuk, optometrist, CERA researcher and PhD candidate at the University of Melbourne.

  The condition of many female carriers is often so mild it’s only identified after a male relative has been diagnosed with an IRD.

  That’s why past research has focused only on men. However, it is now known that some women are much more significantly affected, and can become legally blind even as a carrier.

  Operating instructions

  Chromosomes are the thread-like structures located inside the nucleus of living cells. They contain the instructions for how those cells should operate – and also determine a person’s biological sex.

  Females have two X-chromosomes and males have one X and one Y, so certain IRDs can affect the sexes in very different ways, as Gocuk explains: “Conditions like choroideremia, and some forms of retinitis pigmentosa, are X-linked conditions, meaning they are caused by faults in the X-chromosome.”

  As men only have one X-chromosome, a single copy of the mutated gene means they’ll develop the retinal condition. For women, an X-linked retinal condition may present quite differently – with some having no symptoms and others noting vision changes.

  “If a female has one mutated and one normal gene, individual cells randomly decide which of the two X-chromosomes are expressed. Because of that, you get a wide spectrum of disease severities.”

  

  Participants will receive genetic testing and a comprehensive eye examination.

  Survey and study

  During clinical visits, Gocuk will learn more about the eye health of female carriers, with participants receiving genetic testing and counselling, as well as undergoing comprehensive eye examinations to assess their retinas. They can also continue in the study to monitor how their vision changes over time.

  In another part of her study, Gocuk is asking female relatives of men with X-linked IRDs to complete an online survey to develop a better understanding of how these conditions affect women.

  Gocuk says previous questionnaires that have looked at female carriers of other genetic conditions found many women experience “shock, guilt and anxiety” when male relatives are diagnosed.

  “One of my participants became quite teary when speaking about her experiences because she has a number of male relatives with retinitis pigmentosa. She knows this research might not benefit her or her children, but she wants to contribute.”

  “It’s been quite rewarding to hear these stories.”

  As a recipient of the University of Melbourne’s Harold Mitchell Postgraduate Travelling Fellowship and a Choroideremia Research Foundation (USA) travel grant, Gocuk is using the funds to travel to the University of Oxford to examine 10-year data from a UK longitudinal study.

  This runs alongside another ongoing project at CERA that is studying people who are living with an IRD, known as the Victorian evolution of inherited retinal diseases – natural history registry (VENTURE).

  Gocuk hopes her research helps lay the groundwork in determining whether more women can benefit from emerging treatments, like gene therapy.

  “It would be quite rewarding – and potentially life changing – for female carriers of X-linked eye diseases.”

  If you think you’re a female carrier of an X-linked inherited retinal disease or would like further information, please email Sena Gocuk: sena.gocuk@unimelb.edu.au

   

  This story has been updated since it was first published in April 2022.

  Related Pages

  ---

  Research

  Venturing forward

  A registry gathering vital information on people with inherited retinal diseases will help drive research into the most common cause of legal blindness in working-age Australians.

  Read More

  Clinical Trials

  Register your interest in clinical trials

  To express interest in taking part in current or future clinical trials at CERA, please join our online database.

  Read More

• ‘Melting’ crystals to fight blindness

  News

  ‘Melting’ crystals to fight blindness

  Retinal gene therapy researchers Dr Tom Edwards and Dr Sloan Wang are developing a potential gene therapy to ‘melt’ the crystals on the retina which impair vision in people with Bietti’s Crystalline Dystrophy.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  A possible treatment for Bietti Crystalline Dystrophy is one step closer to clinical trial following positive results in the lab.

  “While not many non-ophthalmologists may have heard of Bietti Crystalline Dystrophy, it’s actually one of the most common inherited retinal diseases in Southeast Asia,” says Dr Tom Edwards, Principal Investigator at CERA.

  “Also, from a scientific point of view, it has a number of features that make it an appealing target for gene therapy.”

  The research to find an investigational therapy, led by Dr Edwards, ophthalmologist Dr Doron Hickey and their team, has reached a milestone following the publication of their work in the journal Scientific Reports.

  The paper identifies a viral vector with the capabilities to deliver the therapy, bringing it one step closer to a clinical trial.

  

  Eye crystals: Crystals on the retina cause vision loss.

  Missing proteins

  The condition is caused by a fault in the CYP4V2 gene, which provides the instructions that the body uses to create a particular protein in the eye.

  This protein has a critical role in breaking down lipids – a type of fatty acid. But for people missing this protein, this process is interrupted.

  “Without this protein the lipids do not break down, leading to the crystals that form on the retina that impair vision,” says Dr Sloan Wang, Research Fellow in the Retinal Gene Therapy Unit, who led the lab that undertook the work for this project.

  “If we can introduce the protein back into the eye, it could be possible to dissolve the crystals.”

  Special delivery

  To do this, the team have taken the missing gene and put it into a viral vector called AAV2.

  Their lab research verified that this method is an effective method of delivering the missing gene.

  “This type of therapy is called gene supplementation therapy,” says Dr Wang.

  “The healthy gene that we introduce into the cells starts copying itself, and then starts to produce the protein in the eye.”

  The effect has the potential to reverse vision loss.

  “Once the crystals are dissolved, we’ll then, theoretically, be able to restore a person’s vision,” says Dr Wang.

  The next stage for the research would be testing the treatment outside of the lab.

  “We’ve shown about as much as we can in a laboratory setting – that this treatment has a good prospect of treating the disease,” says Dr Edwards.

  “The next step would be going ahead with a clinical trial.”

  Building on the success of his work, Dr Wang was recently announced as a 2022 Graduate Education Fund Scholar by the American Australian Association.

  The prestigious scholarship will allow him to study at Yale University for a year, where he will focus on the development of novel viral vectors for future gene therapies.

  “There’s an old saying about the efficacy of the gene therapy: delivery, delivery delivery,” says Dr Wang.

  “The deliverer of genes is the foundation of all gene therapies.”

  “What I will be working on is a way to deliver the gene therapy that is safer, more effective, and with less limitations.”

  “It’ll be interesting to develop those skills and bring them back to CERA.”

  Dr Edwards says the opportunity reflects Dr Wang’s many successes at CERA and is a well‑deserved opportunity: “Sloan has been an outstanding postdoc, and he’ll come back from this even better and more accomplished as a scientist.”

  Read the research

  Wang, JH., et. al. (2022) AAV2-mediated gene therapy for Bietti Crystalline Dystrophy provides functional CYP4V2 in multiple relevant cell models. Sci Rep https://www.nature.com/articles/s41598-022-12210-8

  Related Pages

  ---

  News

  New insight into Bietti Crystalline Dystrophy

  New research tracking the progress of Bietti Crystalline Dystrophy provides a useful template for investigating other inherited retinal diseases.

  Read More

  Eye Conditions

  Inherited retinal diseases (IRDs)

  Inherited retinal diseases are a broad group of genetic eye conditions that cause vision loss and sometimes, legal blindness. They can occur from birth through to late adulthood.

  Read More

• Charting a genetic path to save sight

  Research

  Charting a genetic path to save sight

  CERA is part of a collaboration paving the way towards new, precision treatments for AMD and glaucoma by identifying the genetic signatures of each disease.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  Genes, the biological instructions that tell cells how to operate, play a crucial role in the human body.

  However, genes are also fundamental to many diseases, and specific genes are often associated with particular disorders.

  Identifying the genes linked to a condition can guide researchers to improve current treatments, as well as the development of whole new therapies.

  This idea has driven the research of CERA’s Principal Investigator Clinical Genetics Professor Alex Hewitt.

  “We have been building a program of research where we’re interested in stem cell studies to model disease at a very large scale to do screening for future clinical trials,” says Professor Hewitt.

  “This work is the culmination of contributions from many research teams around Australia, and we are grateful for our close collaborations, particularly with Professor Alice Pébay, who is based at the University of Melbourne and Professor Joseph Powell from the Garvan Institute of Medical Research.”

  By transforming one type of cell into another, Professor Hewitt and his collaborators hope to one day match people living with age-related macular degeneration (AMD) and glaucoma to new, emerging treatments.

  AMD identified

  AMD – the progressive deterioration of the macula which can lead to the loss of central vision – is an important target for research.

  While the ‘wet’ version of the condition can be stabilised with regular injections, there is currently no treatment for ‘dry’ AMD.

  With a wave of potential new treatments now coming close to clinical trials, identifying genes associated with the disease can point researchers towards the treatment most effective for any individual patient.

  To find these genes, researchers compare healthy tissue to that of someone affected by the disease, but collecting samples would typically require a very invasive procedure.

  Instead, the team took skin samples from both healthy people and those with late‑stage AMD.

  Both sets were reprogrammed to become induced pluripotent stem (IPS) cells, which were then guided to become retinal pigment epithelium cells — the cells affected in AMD.

  Comparing 127,600 cells revealed 439 molecular signatures associated with AMD, with 43 of those being potential new gene variants.

  

  A microscopic look at retinal pigment epithelium cells – the cells affected by AMD.

  Glaucoma detailed

  The team have also used the same technique with people affected by primary open angle glaucoma.

  Retinal ganglion cells – which transmit visual information from the eye to the brain via the optic nerve – are essential for vision.

  In glaucoma, the gradual damage and death of these cells leads to a progressive, irreversible decline in sight.

  By comparing stem cell models of the retinal ganglion cells of people with primary open angle glaucoma to those without the disease, the team uncovered more than 300 novel genetic features.

  “Glaucoma is often an inherited condition, and comparing diseased retinal ganglion cells with healthy one is an effective way to increase our understanding of the mechanisms that contribute to vision loss,” says Professor Hewitt.

  Professor Hewitt says the research provides hundreds of new targets for researchers developing new drugs to treat glaucoma.

  “Current therapies are limited to slowing vision loss by reducing pressure in the eye – but they do not work for all patients and some people continue to lose many retinal ganglion cells and vision despite having normal eye pressure.”

  “The rich source of genetic information generated by this research is an important first step towards developing new treatments that go beyond lowering eye pressure, and can reverse damage.’’

  Read the research

  Daniszewski et al. Retinal ganglion-cell specific regulation in primary angle open glaucoma, Cell Genomics (2022) https://doi.org/10.1016/j.xgen.2022.100142
  Senabouth et al. (2022) Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration, Nature Communications https://www.nature.com/articles/s41467-022-31707-4

   

  CERA is grateful to the generous philanthropy of the Joan and Peter Clemenger Foundation and the estate of the late Philip Neal, which funded essential infrastructure to support our IPS research.

  Related Pages

  ---

  News

  Genetic detectives: finding the causes of eye disease

  CERA’s clinical genetics team is zeroing in on the causes of inherited eye diseases, then devising new treatments and screening tools to preserve vision and prevent blindness.

  Read More

  Support our work

  Philip’s gift

  Philip George Neal (1950-2011), a dairy farmer from South Gippsland in Victoria, has made an extremely generous bequest to support stem cell research at the Centre for Eye Research Australia.

  Read More

• Jasmine’s vision for success

  News

  Jasmine’s vision for success

  Jasmine hasn’t let her diagnosis of an inherited retinal disease stand in the way of her ambition to make a difference.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  Like other nurses in Melbourne’s busy hospitals, Jasmine Mercieca is working hard to help save lives.

  “I like working in a fast‑paced environment where you can have the biggest impact,” she says.

  The only difference to many of her peers is that Jasmine has retinitis pigmentosa – a type of inherited retinal disease (IRD) that causes progressive, irreversible vision loss.

  Living with an IRD

  IRD is an umbrella term for a range of genetic eye diseases that cause retinal cells to stop functioning properly, leading to progressive vision loss.

  More than 300 genes are associated with inherited retinal diseases.

  Genetic errors can be passed down from parent to child – but they do not always result in vision loss.

  This means an IRD can happen when there is no known history, as it did in the Mercieca family.

  “At first, my parents felt a bit guilty, thinking they gave me the inherited disease,” she says.

  At the same time, Jasmine says the whole family was behind her from day one: “Even when I see my specialist, everyone wants to be in the room.”

  Her mother, Grace, says the diagnosis came as a surprise: “We took her to find a cool, new pair of glasses for her first day of high school. The optometrist noticed something right away and referred us to a specialist. That’s when we found out she had retinitis pigmentosa.”

  Grace says that, coming from traditionally private families, this was a difficult process for her and husband Frank: “We all got tested, but we’ve never been able to find the link.”

  Jasmine feels lucky her condition didn’t affect her much during her teens: “When you’re younger, you’re not thinking about your future. As I get older, it’s scary because I realise this is happening now.”

  Even in its earliest stages, Jasmine says retinitis pigmentosa still impacts her daily life: “If I’m tired or looking at a screen a lot, my eyes get quite dry and itchy, and my vision can go very blurry.

  “My peripheral vision also isn’t amazing, so I can’t drive a car. It’s frustrating because there is no public transport where I live, and I can’t travel independently.”

  Retinitis pigmentosa affects Jasmine mostly at night and in dimly lit environments: “Last night, I asked Hayden, my partner, to pass my phone.

  “When I thought he was ignoring me, I said: ‘Give me my phone!’ And he replied: ‘It’s right in front of you!’”

  No career barrier

  Fortunately, Jasmine’s vision is no barrier to being a nurse.

  Her career inspiration came just after completing high school. At the time, she was studying environmental science while also caring for her 92-year-old grandfather.

  “Nurses would visit to make sure he took his insulin and general care of himself. It made such an impact, I decided to study nursing instead,” she says.

  Her father, Frank, says Jasmine has always wanted to help make a difference: “She even used to volunteer in the local area planting trees.”

  Though naturally proud, Frank was also slightly surprised about her choice of career: “Jasmine used to be too scared to even get a needle,” he says laughing.

  Since graduating in 2021, Jasmine says she’s thriving in the challenging and rewarding world of theatre nursing: “The pandemic has put pressure on junior staff, like myself, to really step up. But I’m loving it and wouldn’t do anything else.”

  

  Family support: Jasmine with her mother, Grace, and sister, Nicole.

  Natural history study

  Jasmine is part of the VENTURE natural history study, led by CERA and the University of Melbourne, and says her family actively encouraged her to participate: “Mum is always texting my specialist, asking whether there’s anything I can get involved in.”

  Until recently, someone diagnosed with an IRD was told that progressive and irreversible vision loss was inevitable. However, with rapid advances in gene and cell therapy research, there is hope for the future.

  VENTURE study leader Associate Professor Lauren Ayton and her team aim to create a database containing information about people’s vision, genetic profile and availability to take part in clinical trials.

  “This means that when new clinical trials are available, we will have people ready to take part, giving Australians access to world-leading treatment options as soon as possible,” says Associate Professor Ayton.

  Hope in sight

  While it’s scary living with the uncertainty of not knowing how fast her vision loss may progress, Jasmine says the support of loved ones, like Hayden, brings hope: “There are people out there who’ll care about you unconditionally – and won’t mind that your eyes are a little bit crap.”

  Grace says her daughter is determined to not let retinitis pigmentosa rule her life: “It’s only now she wants to be involved in these trials because, even a few years back, she was in denial.”

  Jasmine has had time to reflect and is now at peace with having retinitis pigmentosa: “That’s why I’m excited to tell my story and be part of this research because, even if it doesn’t help me, there’s a chance it will help other people. So why wouldn’t I do it?”

  Related Pages

  ---

  News

  Venturing Forward

  A registry gathering vital information on people with inherited retinal diseases will help drive research into the most common cause of legal blindness in working-age Australians.

  Read More

  Eye Conditions

  Inherited retinal diseases (IRDs)

  Please join us on World Sight Day, 13 October, as we welcome back our donors and supporters to our first in person event in over two years.

  Read More

• Geoff’s life of service

  Stories

  Geoff’s life of service

  Geoff Burfoot lived a life of service and adventure. Now his bequest will make a difference to vision research.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  Throughout his life, Geoff Burfoot was known as a generous man. When he passed away, aged 94, a total of 52 charities benefited from his will.

  Close friend and retired Anglican priest Graeme Hodgkinson says Geoff also supported people financially when in need: “The Anglican Church in Tyalgum received a new roof with Geoff’s help. He was always willing to share his wealth for a good cause.”

  Early life

  Geoff grew up in Sydney’s Upper North Shore and suffered from poor health as a young man. When his doctor recommended a warmer climate, Geoff made the big move to Papua New Guinea (PNG).

  He loved his adopted country and joined the Provisional Administration of New Guinea in 1946 as a patrol officer – just after the end of World War II.

  Starting in Port Moresby, Geoff served throughout PNG and eventually rose to the rank of Assistant District Officer.

  A friend and superior officer from Geoff’s time in the service says he had a reputation for being a “man of high morals” and was “different to the run-of-the-mill officers”.

  In 1961, Geoff cut his leave short to assist in the recovery following the catastrophic eruption of the Mount Lamington volcano.

  For nine months, Geoff led patrols into the disaster zone to find villages that had been destroyed – helping locals and burying the dead.

  At the same time, Geoff was known as a bit of a character, as a friend explained: “Our kids loved it when Geoff visited. He learned all the traditional dances and performed them with great gusto in front of anyone interested in watching.”

  “If you visited his house, you never knew how you’d find him. Once I found him hanging from the rafters by his ankles doing exercises. As an entertainer, Geoff had no equal.”

  Back in Australia

  Though Geoff loved his life in PNG, he returned to Australia in 1975 after the Declaration of PNG Independence. He bought a property in the bush, near the small Northern Rivers town of Tyalgum in NSW and fell in love with the countryside.

  Here, Geoff grazed cattle and practised the skills he developed at the Australian Natural Therapy College in Sydney.

  Geoff’s talents also extended to the kitchen. When Geoff’s sister Jo visited from Sydney, Graeme and his wife always got an invitation to dinner.

  “He’d ask us what we preferred out of German, English, Japanese and other Asian dishes. He was an expert at cooking any traditional style of meal,” Graeme says.

  Final years

  Geoff’s endless generosity was not lost on the people of Tyalgum. And when he could no longer drive, the locals banded together to deliver meals to his property and drive him into town to grab supplies.

  “When we parked outside the post office, Geoff would blow the car horn three times at full blast, then wait for the postmaster to come running with his mail and papers. Everyone in town knew when Geoff was picking up his mail,” Graeme says.

  Toward the end of Geoff’s life, he ate almost every day at the local café, with a special table always reserved.

  “Woe betide the management if, for any reason, the table was in use by someone else,” Graeme says laughing.

  Graeme visited Geoff regularly in his final years and says he was a man of great faith: “We enjoyed a muscat or two each Monday and talked about many subjects. He was well prepared for his passing when the time came.”

  Gifts in wills

  By including a gift in your will to the Centre for Eye Research Australia or the Centre for Eye Research Australia Foundation, your support for new medical discoveries to treat and cure eye diseases can continue.

  Your gift will contribute to research projects that are most important to you and will have the greatest impact on eye health in the future.

  If you’re considering leaving a gift in your will to advance CERA’s research, please call our Donor Relations Advisor on 1300 737 757 for a confidential discussion.

  Related Pages

  ---

  Support our work

  Gifts in wills

  By including a gift in your will, your support for new medical discoveries to treat and cure eye diseases can continue.

  Read More

  Support our work

  ‘High-flyers’ with a passion for eye research

  CERA is grateful to late siblings Joan and John Garden for their generous bequest to support vision research.

  Read More

• Treatments in sight

  News

  Treatments in sight

  A clinical trial at CERA is investigating a potential treatment that could slow vision loss in people with Usher syndrome.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  “I’m so lucky,” Sophie Thomas enthuses, enough to raise an ear of her seeing-eye dog Yarra.

  It’s a phrase Sophie, 45, uses a lot sitting in her inner city apartment describing living with Usher syndrome, a rare genetic condition responsible for hearing loss or deafness, gradual vision loss and, sometimes, balance problems.

  Part of Usher syndrome is a hereditary eye disease called retinitis pigmentosa. The disease affects the retina, the light-sensitive layer at the back of the eye. It has no cure.

  Born with severe hearing loss, Sophie has also been progressively losing her vision since her mid twenties.

  But she says she is lucky to be surrounded by so many “amazing humans” – husband, family, friends, her boss and work colleagues, volunteers and ordinary kind people in the street – all making her life, and the lives of many others impacted by vision loss, a lot easier.

  Sophie, a group business services manager at Clicks IT Recruitment, says her employer has “gone along this journey of vision loss with me for the past 15 years”.

  “They have been fantastic and always given me every support I needed – from making sure I had all the equipment I needed to do my job to asking staff to keep their bags off the floor to reduce tripping hazards,” she says.

  Sophie is also enthusiastic about a clinical trial at CERA investigating whether an antioxidant oral tablet can slow vision loss from retinitis pigmentosa.

  “I am so excited about this trial,” she says.

  “I am very passionate about any research that may slow down or even prevent vision loss from this terrible disease – if not for me, then for future generations of people who have Usher syndrome.

  “I know I won’t get the vision I have lost back, but if they discovered a tablet that could stop me losing more vision, I would be super happy.”

  

  Enthusiastic support: Sophie Thomas, with seeing eye dog Yarra.

  Clinical Trial

  The world-first clinical trial exploring if the antioxidant tablet called N-acetylcysteine amide (NACA) will slow down vision loss caused by retinitis pigmentosa is being led by principal investigator Dr Jonathan Ruddle, a Melbourne eye surgeon and CERA researcher.

  It is hoped the antioxidant tablet could mitigate or even stop a harmful problem called oxidative stress in the eyes.

  Oxidative stress causes damage to the photoreceptors (cells that help you see), and this can ultimately lead to vision loss.

  Nearly 50 Australian adults – 12 from Victoria – are participating in the two-year trial at four sites nationally. Some participants are being given the oral tablet that may protect against oxidative stress, while others are being given placebo tablets.

  The study, called Safety and Efficacy of NPI-001 Tablets versus Placebo for Treatment of Retinitis Pigmentosa Associated with Usher Syndrome (SLO RP), is sponsored by Nacuity Pharmaceuticals.

  Sophie is extremely excited about what this trial might mean for people experiencing the condition.

  “I was disappointed that I couldn’t join this trial in finding a cure for this horrible disease, but I am very keen to join any future trial phases or other trials,” she says.

  CERA Clinical Trial Coordinator Bhaj Grewal says people in their forties like Sophie have adapted to their vision loss, and so it can be very alarming when they start losing more vision.

  “Hopefully for people like Sophie in their forties we can find a treatment that will maintain the vision they have for the rest of their lives,” she says.

  “And for people in their twenties hopefully it’s even more positive where we can really slow down the process, so they don’t experience such dramatic vision loss.”

  This story was originally published in CERA’s 2021 Annual Review: Lighting the Way.

  Related Pages

  ---

  Eye Conditions

  Usher syndrome

  Usher syndrome is a rare genetic condition that affects vision, hearing and sometimes balance.

  Read More

  News

  Lighting the way

  CERA’s Annual Review highlights some of the incredible people supporting us on our mission to develop better treatments and faster diagnoses for eye disease.

  Read More

• Contribute to the future of gene technology

  News

  Contribute to the future of gene technology

  A new research project asks people to share their perspectives on the use of gene technology in healthcare to help shape its development.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  A new survey being undertaken by Associate Professor Guei-Sheung Liu, Principal Investigator and Head of the Genetic Engineering Research Unit at the Centre for Eye Research Australia, is aiming to understand what people know about gene technology.

  His team is interested in understanding the factors that influence people to undertake current and future gene therapies in order to inform the scientific community on how communication about future treatments should be delivered.

  “It’s a little unusual for laboratory scientists to do this sort of research – we typically do work that is focused on understanding the biology of human cells,” says Associate Professor Liu.

  “But now that we are introducing new technologies in treatments, we need to know how well the public understands these technologies and how they feel about it, so that we can think about introducing and integrating them into our healthcare system.”

  

  New possibilities: Gene technology is opening the door to new treatment possibilities

  New technology

  Gene technology is opening the door to novel therapies for conditions that have previously been thought of as untreatable.

  Some gene therapies are already available to patients, but new, emerging technologies may transform how future treatments are developed.

  Knowing how the public views and understands these technologies is crucial to its future development.

  “There has been a lot of development around traditional gene therapy over the last 10 years, with the aid of gene technology, particularly in eye care, but little is known about what the public thinks about using gene technology to prevent, treat, or even diagnose disease,” says Associate Professor Liu.

  His current research focuses on using gene technology to develop treatments for a range of inherited retinal diseases, such as retinitis pigmentosa and Usher syndrome.

  In both these conditions a person is born with a faulty gene – the instructions that tell cells how to behave – which leads to loss of sight.

  “Gene technology is a cutting-edge method which might change the way we manage these conditions in the near future,” says Associate Professor Liu.

  “New therapies are being developed to repair the faulty genes, or replace them with working ones, to maintain cell function. We hope to have a clear understanding of what the public knows, and how they feel about it.”

  New treatments also have the potential to treat other common eye conditions including diabetic retinopathy, age-related macular degeneration and glaucoma.

  Future goals

  Previous surveys undertaken at CERA have explored how people living with inherited eye disease view genetic testing to incorporate their lived experience into future research.

  This new survey, which is now open to Australian residents aged 18 years or over, looks to understand what people know about genetic research, what influences their knowledge and decisions, and their outlook for the future of gene technology-based healthcare.

  “As these treatments go from the bench side to the bedside, we want to know what people understand so we can improve how we communicate our work,” says Associate Professor Liu.

  To take part in the survey and support the work, visit the project’s information page.

  Related Pages

  ---

  Take part in research

  Your thoughts on the use of gene technology in healthcare

  CERA invites Australian residents over 18 years of age to share their views about the use of gene technology in healthcare.

  Read More

  News

  Venturing forward

  A registry gathering vital information on people with inherited retinal diseases will help drive research into the most common cause of legal blindness in working-age Australians.

  Read More

• Venturing forward

  News

  Venturing forward

  A registry gathering vital information on people with inherited retinal diseases will help drive research into the most common cause of legal blindness in working-age Australians.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  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.

  

  Jane Cherry was diagnosed with retinitis pigmentosa in 2019.

  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.

  Related Pages

  ---

  News

  Lighting the way: Annual Review 2021

  This year CERA’s Annual Review highlights some of the incredible people supporting us on our mission to develop better treatments and faster diagnoses for eye disease.

  Read More

  Clinical Trials

  Register your interest in clinical trials

  Express your interest in taking part in current or future clinical trials at CERA.

  Read More

• Eye-opening coffee research

  News

  Eye-opening coffee research

  Coffee and eye research, as well as potential future health screening measures, might not mix.

  Newsletter

  Eye-News emails are sent to
  subscribers once a month

  Subscribe

  ---

  Share this article

  A coffee might have to wait until after an ophthalmologist appointment in the future.

  According to new research from the Centre for Eye Research Australia (CERA), central retinal artery and vein equivalents – measurements of the diameter of blood vessels in the eye – decrease after consuming the caffeine equivalent of three cups of coffee.

  The findings, recently published in the journal International Ophthalmology, are particularly relevant to researchers investigating whether these measurements can be used to spot disease.

   

  

  Associate Professor Sanj Wickremasinghe, examining a patient

  Coffee and sugar

  “Caffeine is a substance that is widely used, and we wanted to see whether it would affect the measurement of tests that are commonly used in research settings,” says Associate Professor Sanj Wickremasinghe, Senior Research Fellow at the CERA Clinical Trials Research Centre and lead author on the paper.

  The team took retinal photographs and blood pressure measurements of healthy participants and then, on separate appointments, provided them 300 mg of caffeine, 30 g of glucose and 300 ml of water.

  The same measurements were then collected 30, 60 and 120 minutes after taking each substance.

  While there was no noticeable change after participants took glucose and water, people who took caffeine experienced a constriction of the blood vessels in their eyes.

  “We found that, at least in the short term, if you have coffee it does narrow your retinal arteries and retinal veins,” says Associate Professor Wickremasinghe.

  While long-term effects have not been measured, and the measurement is not often used in a clinical setting, Associate Professor Wickremasinghe says this finding is relevant to researchers currently working on developing new ways to identify disease.

  “Central retinal artery and vein equivalents are used by researchers looking numerous diseases, particularly heart disease, to assess outcomes, as well as predicting the overall health of patients themselves,” says Associate Professor Wickremasinghe.

  “Researchers should be aware that coffee can have this effect, and it is worth considering when interpreting results.”

  Broader view

  As retinal vessels have been associated with systemic disease, such as heart disease, methods to use retinal imaging to assess a person’s health have been the target of research and might one day be common in the clinic.

  This includes artificial intelligence systems, which aim to capture a snapshot of a person’s health using imaging techniques.

  These systems could potentially use retinal vessels as measurement, and may have their accuracy impacted if a patient had several coffees before an appointment.

  Associate Professor Wickremasinghe says this should be a consideration in future research.

  “This study is a small one, so it’s not something we can make a conclusion from, but it is certainly worth taking into a bigger study with perhaps longer-term measurements, particularly in societies that drink a lot of coffee.”

  Read the research

  Gin, T.J., Ali, N., Gnanasekaran, S. et al. Acute effects of caffeine and glucose intake on retinal vessel calibres in healthy volunteers. Int Ophthalmol (2022). https://doi.org/10.1007/s10792-022-02417-z

  Funding

  This work was supported by a grant from Novartis Pharma AG. Associate Professor Sanj Wickremasinghe and Associate Professor Lyndell Lim are supported by a National Health and Medical Research Council (NHMRC) Early Career Fellowship. The Centre for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government.

  Related Pages

  ---

  News

  Sharpening focus on eye clinical trials

  On International Clinical Trials Day, we look back the origins of the clinical trial and focus on the future of eye research.

  Read More

  Clinical Trials

  Register your interest in clinical trials

  To express interest in taking part in current or future clinical trials at CERA, please join our online database below. First, here are some important things you need to know.

  Read More