Retina Australia Quarterly



Retina Australia QuarterlyDecember 2020Table of Contents TOC \o "1-3" \h \z \u Chairman’s Report PAGEREF _Toc57278153 \h 2Christmas Office Closure PAGEREF _Toc57278158 \h 5Vale - June Ashmore PAGEREF _Toc57278160 \h 6New Appointments to Retina Australia Board PAGEREF _Toc57278161 \h 7Retina Australia 2021 grant recipients announced PAGEREF _Toc57278165 \h 9Retina Australia Webinar PAGEREF _Toc57278171 \h 13Know Your Code – Genetic Testing in Australia and around the world PAGEREF _Toc57278172 \h 14Webinars for 2021 PAGEREF _Toc57278173 \h 15A WORLD-FIRST miracle device that lets blind people see is nearing human trials. PAGEREF _Toc57278174 \h 16Restoration of retinal and visual function following gene therapy PAGEREF _Toc57278176 \h 18Clinical Trial Opportunity PAGEREF _Toc57278178 \h 21Luxturna Becomes First Ever TGA Approved Gene Therapy PAGEREF _Toc57278180 \h 22Events in Your State PAGEREF _Toc57278182 \h 25Hot off the Press PAGEREF _Toc57278184 \h 27Sell your unwanted items and benefit Retina Australia at the same time PAGEREF _Toc57278186 \h 29Christmas Gift Ideas from Retina Australia PAGEREF _Toc57278187 \h 29Get in Touch PAGEREF _Toc57278191 \h 31Disclaimer PAGEREF _Toc57278192 \h 32Chairman’s ReportIt is my pleasure, on behalf of the Board of Retina Australia, to present this final Chairman’s Report for 2020. In doing so I would like to thank my fellow Board members, along with all other volunteers, for their continued support and invaluable contributions, particularly during the extremely challenging times of the coronavirus (COVID-19) pandemic, from which we are gradually emerging. DonationI would like to take this opportunity to thank Novartis Pharmaceuticals Australia P/L for their recent donation of $20,000. This donation was provided specifically to assist Retina Australia in the provision of support and resources for members, during the unprecedented period of COVID-19. We are extremely grateful for the generosity of Novartis, who have not only supported our members across Australia, but who are renowned for supporting Retina International, and individuals world-wide suffering from inherited retinal disease.Annual General Meeting and Board MattersRetina Australia held its 36th Annual General Meeting of members via Zoom videoconferencing. This was a great success as members across Australia were able to participate in the meeting. Members were provided with the Chairman’s Annual Report, which summarised the previous year’s activities of Retina Australia, as well as the 2019-2020 audited financial statements. The election of Board members was also endorsed. I am pleased to be able to report that the composition of the Retina Australia Board for 2020-2021 is: Chairman: Leighton Boyd Deputy Chairman: Jeremy D’Souza Company Secretary: Rosemary Boyd Board Members: Mary-Anne Carmody, Melanie Chatfield, Robert Craft, Julie Demarte, Joshua Ginpil, Peter Maas and Heather Mack. I would like to welcome new directors, Joshua Ginpil and Heather Mack, who were recently invited to join the Board to fill the casual vacancies created by the resignations of Pina Faliti-Smith and Sean Smith. Joshua and Heather bring exceptional skills to the Board and I look forward to working with all directors to assist those affected by inherited retinal disease during the next twelve months.Throughout the past year the Board has worked together to consolidate all necessary steps to complete the amalgamation processes of all state and territory organisations with Retina Australia, and to establish plans for the future directions of the organisation. It is truly exciting to be involved in this new era for Retina Australia.Research GrantsIt is very satisfying to report that the Retina Australia Board have allocated $160,000 for the 2021 research grants pool. The ability to pledge this amount for research once again, has been made possible by the very generous donations, of members, friends, and supporters across the country. On your behalf, I would like to congratulate the successful grant recipients for 2021 who are Dr Lauren Ayton, Professor Alex Hewitt, Associate Professor Heather Mack, Dr Fred Chen, Dr Jennifer Thompson and their research teams. This year we received many credible, and worthy, applications and I thank the researchers who put forward their unique proposals in grant applications and wish them well for their future investigations. It is unfortunate that we do not have the capacity to fund all projects, however we are certainly interested in continuing to work closely with researchers investigating inherited retinal disease wherever possible. Final CommentsFollowing an eventful year in which our activities have been curtailed by COVID-19, the Board and staff have grasped the opportunity to develop new skills including the use of Zoom meetings, Webinars, and Social Media. We have also launched some new fundraising projects including a Trivia Night and a partnership with Goodwill Wines. We are looking forward to expanding our fundraising projects in 2021.I am also hopeful that we will have new vigour in pursuing our mission of “assisting those affected by vision loss from inherited retinal diseases by providing support, information and funding for research”. Above all, the Board will continue to raise awareness of inherited retinal disease in the community across Australia. I look forward to the next year with enthusiasm.Thank you for your continued membership and support,Leighton BoydChairmanRetina AustraliaChristmas Office ClosureThe Retina Australia office will be closed for Christmas from close of business on Thursday 17th December, 2020, and will re-open on Tuesday 5th January, 2021.The Board, staff and volunteers of Retina Australia would like to wish you a very Merry Christmas and a happy New Year full of optimism and hope for the future.Vale - June Ashmore Retina Australia are saddened to advise that one of our founding members, June Ashmore, from Canberra, passed away on Wednesday 21 October 2020. June made an outstanding contribution to enhancing the lives of people who are blind, or have low vision, at a local, national and international level.? When Retinitis Pigmentosa started to impact on her life, June directed her energies to tireless work with Retina Australia, as a Board Member, mentor, and advocate for those impacted by inherited retinal disease. June was an inspiration to the members of Retina Australia in the ACT, and also for members of the Canberra Blind Society and Blind Citizens Australia through her significant contributions to those organisations over many years. June was a strong campaigner, and great role model, for guide dog users across Australia and overseas. June served on the foundation board of Vision Australia and she was closely involved with the work of the World Blind Union for a number of years. Beyond all of this, June will be remembered fondly by many for the peer support and inspiration that she so freely offered.? Above all, June loved a “great chat”, a “good dinner”, and a “glass of wine (or two)”.Our thoughts are with June’s husband David, their four sons and their families at this time.? Rest in Peace June New Appointments to Retina Australia BoardRetina Australia is delighted to welcome Associate Professor Heather Mack and Joshua Ginpil to the Retina Australia Board. Heather MackHeather was first involved with Retina Australia as a member of the Grants Committee 1998-2010. She has over 30 years’ experience as an ophthalmologist focussing on retinal diseases. She leads the retinal electrophysiology laboratory and clinical trials units at Eye Surgery Associates, Melbourne. She was involved with the Royal Australian and New Zealand College of Ophthalmologists, a not-for-profit membership organisation,?for 17 years, and served as President 2018-2020.Heather has an MBA and is a graduate of the Australian Institute of Company Directors.Joshua GinpilJosh has extensive experience in senior management roles in the Corporate Governance, Audit and Risk Management profession within the Financial Services and Government sectors.?Josh holds a Masters of Business Administration from Deakin University, a Graduate Diploma of Applied Corporate Governance from the Governance Institute of Australia, a Graduate Diploma of Chartered Accounting from the Institute of Chartered Accountants Australia and New Zealand and a Bachelor of Commerce from the Australian National University.?Josh is a Chartered Accountant, Chartered Secretary and a Chartered Manager and is recognised as a Fellow of the Governance Institute of Australia a Fellow of the Institute of Chartered Secretaries and Administrators and a Fellow of the Institute of Chartered Managers Australian and New Zealand.Josh was recently diagnosed with Best Disease and is committed to the challenge of ensuring ongoing funding for research into a cure for all inherited retinal diseases.Retina Australia 2021 grant recipients announcedThis year, Retina Australia has again been able to allocate $160,000 in research grants to some of the top scientists working in inherited retinal disease research in Australia. These grants would not be possible without your generous support, and we thank you for your contributions, however large or small. We are pleased to announce that following recommendation by our grants assessment committee, the Retina Australia board have awarded research grants for 2021 to Dr Lauren Ayton (The University of Melbourne), Professor Alex Hewitt (The University of Tasmania), Dr Fred Chen (The University of Western Australia), Associate Professor Heather Mack (CERA/The University of Melbourne), and Dr Jennifer Thompson (Sir Charles Gairdner Hospital).Improving Sensory Substitution Low Vision Devices Through Novel Software Adaptations, Dr Lauren Ayton.This project aims to use the team’s expertise using both invasive (bionic eye & gene therapy) and non-invasive (low vision aid & sensory substitution) technologies to improve new sensory substitution devices for people with low vision. Data will be obtained on the efficacy of two commercially available sensory substitution devices: the BrainPort tactile sensory substitution device and the vOICe vision-to-audio device. Collaboration with the developers of the technologies as well as feedback from participants will lead to both academic outcomes as well as, more importantly, real-world improvements in the usability of these new technologies for people with low vision.Strong, fast, then none: development of novel promoters for gene-editing therapies, Professor Alex Hewitt.Gene editing is a frontier technology that enables the permanent correction of various inherited conditions. The infancy of this technology is not without its limitations, and concerns remain regarding their effectiveness, feasibility, and side-effects. Herein, we use our novel variant of this technology, which has been improved for effectiveness and biosafety, to evaluate its feasibility in correcting various pathogenic conditions as a clinic-ready solution. This work lays the foundation for the clinical translation of our novel gene editor.Looking for disease-causing mutations in families with dominant RP pedigrees, Dr Fred ChenRPI I is a type of RP caused by mutations in the PRPF3/ gene and it is estimated to account for 250 cases in Australia. RPI I is dominantly inherited, meaning that only one copy of the gene with a mutation is required to cause disease. There is no treatment available to patients burdened with this condition. Our group is currently developing a novel therapeutic to treat PRPF3 /-associated RP. In laboratory studies using engineered cells from patients, the molecule has rescued some of the functions missing in RP 1 1. The molecule has an excellent safety profile, and it is on track to reach phase 1/2 clinical trials at the end of 2021.The Australian Inherited Retinal Disease Registry and DNA Bank (AIRDR), and the Lions Eye Institute (LEI) are currently monitoring the disease progression rate in a cohort of 20 patients in Western Australia with disease-causing mutations in PRPF3 l. However, a larger pool of patients fulfilling the eligibility criteria is required for an Australia-wide phase 1/2 clinical trial. We will use specialized gene analysis techniques to rapidly identify PRPF3 I disease causing mutations in autosomal dominant RP families who have provided samples to the AIRDR and DNA bank and select potential participants for future clinical studies. Analysis of these samples will also provide a genetic diagnosis to many of these families, presenting opportunities for them to make informed decisions regarding disease management and family planning.Through this study, we will also gain greater understanding of the factors contributing to disease penetrance, age of onset and severity in RPI 1 , through analysis of known modifying factors, such as the number of copies of a repeated sequence the 'MSRI' (upstream of PRPF3 I), and a 'Single Nucleotide Polymorphism' rs48067 I 8 in a modifier gene.Both these elements are known to be predictors of RPI I disease severity, and it is important that we understand the interaction between with these modifiers, disease progression and response to treatment.Potential participant perspectives on ocular gene therapy in Australia, Associate Professor Heather Mack.Previous studies have shown that individuals who might participate in gene therapy clinical trials overestimate clinical effect, and underestimate risks. This study will survey Australian persons with IRD regarding their knowledge of clinical trials and also develop a novel survey instrument to assess understanding of approved ocular gene therapy (AGT-Eye). Results from these surveys will be correlated with self-reported clinical status, information about quality of life and information about health status.The findings of the study will provide the first comprehensive analysis of the perspectives of Australian people with IRD regarding understanding of and interest in both currently approved and future hypothetical gene therapy for IRD and a comparison between how approved and hypothetical gene therapies are viewed. This information will shed light on patient understanding, guide future gene therapy trials and treatments in Australia, and may be used by health economists to apply for government funding for gene therapy for IRD in the future.Provision of genetic research reports to research participants via their nominated ophthalmologists or clinical geneticists, Dr Jennifer Thompson. An important outcome from inherited retinal disease (IRD) registries is the identification of the likely genetic cause of IRD in research participants. This information allows for the identification of cohorts of relevant individuals for research into personalized medicine or for future clinical trials and treatments, and the provision of that information to participants’ clinicians may significantly improve patient management. To-date, the Australian Inherited Retinal Disease Registry and DNA Bank has provided 1059 genetic research reports to clinicians and geneticists. To create an informative and robust report, the many suspect DNA sequence changes (variants) identified in a participant via genetic analysis must be assessed to determine the likely cause of the IRD. Meticulous variant pathogenicity assessment according to published guidelines must be carried out by a genetics expert experienced in the field. A detailed report is written, summarising the genetic analysis and pathogenicity assessment methods and results, and providing a conclusion. In our successful grant application last year we undertook to provide 200 reports in 2020, and we are on track to meet that target. This project will provide reports, via nominated clinicians or clinical geneticists, for participants from an extra 200 families who would not otherwise receive them. The data resulting from this project will be published with other established data, extending our knowledge of the causes of IRD in Australia. Retina Australia WebinarGene therapy, clinical trials and new developments in IRD researchOn Saturday 17th October, we were delighted to host the 2nd in our series of webinars for members.??Melbourne researchers Dr Lauren Ayton and Dr Tom Edwards updated us on the national approach to identifying and characterising people who might be eligible for current and upcoming clinical? trials (through the Inherited Retinal Disease Natural History Study), as well as describing the most promising developments in the field of gene therapy.With over 50 members registering for this event, and many more accessing the recording afterwards, and great feedback from all attendees, we plan to hold more of these events in 2020. If you are a current financial member and would like to access the recording for this event or our August webinar, please contact the Retina Australia office on 03-9650 5088 or at info@.au. If you are not a current financial member, simply renew your membership now and we will be happy to provide access to these past webinars and our upcoming events as well.Know Your Code – Genetic Testing in Australia and around the worldOn 26th September, Retina International announced the launch of a new genetic testing advocacy portal, Know Your Code? retina-, to mark World Retina Day 2020.The portal, supported by an unrestricted educational grant from the Allergan Foundation, is being launched as part of a call to action for the Inherited Retinal Degeneration (IRD) community to advocate for accessible and affordable genetic testing to accurately diagnose their conditions.Know Your Code is a go-to web portal for information on genetic testing, designed for patients, clinicians, researchers, and health policy specialists alike. Included in the portal is a comprehensive insight into the genetic testing & counselling process, FAQs from the patient and clinical community, as well as the realities that exist regarding disparities in access to these services, which are often dependent on where a person lives.This online platform will equip individuals with up-to-date information as well as the context needed to be engaged and informed advocates for affordable and accessible genetic testing services within their own networks.There are now almost 300 IRD-associated genes, yet this only permits for definitive genetic diagnoses for 2 of every 3 IRD patients. Routine genetic testing will fast-track the discovery of more IRD-associated genes, paving the way for better understanding of disease pathology and potential therapeutic interventions. Genetic testing enables patients to access available treatments and is a prerequisite to participate in clinical trials.However, the benefits of genetic testing extend far beyond clinical and therapeutic impact. “Knowing your code”, and the specific inheritance pattern of one’s IRD, empowers patients and their families to make informed life and family planning choices. These choices optimise the continued wellbeing of patients and their families, which can often be severely impacted by progressive vision loss.In Australia, genetic testing can be carried out in all states and territories, usually with a referral from your ophthalmologist or GP. For further information about testing in your state, visit: for 2021Further webinars are planned for 2021, with the first being held in February. Dates are still to be confirmed, but topics being considered for next year's events include:Research findings from current and recent recipients of grants from Retina AustraliaRecent developments in technology and how it can assist those with inherited retinal diseasePersonal stories from people with inherited retinal diseasesHow the eye works and how IRDs affect itMental health and coping with vision lossIf you have any suggestions for topics or presenters, please contact the Retina Australia office at info@.au or on 03-9650 5088.A WORLD-FIRST miracle device that lets blind people see is nearing human trials. Herald Sun, Saturday September 12 [COPYRIGHT]By Alanah FrostThe device — an implant and camera headset — is a product of Monash University’s Vision Group and has already been successfully tested in animals. Researchers are now hopeful if human trials go well, it could be on the market in as little as five years. Many people with vision loss have damage to the optic nerves, which stop important signals being sent from the retina to the brain. The Monash device has been designed to bypass this damage, creating a pathway for the person to see again. Head of Monash’s neurobionics laboratory Yan Tat Wong said it was like putting together “pixels on a TV”. “What we want to do is fill in what’s lost (by blindness),” he said. “Seeing a loved one’s face, the ease of picking something up, navigating the world and just making people’s lives easier.” It works by connecting a miniature electronic implant to the surface of the brain. The implant is connected to a set of vision goggles and a camera — essentially acting as a “bionic eye”. They transmit to a phone or pocket device and the vision is scanned for the most important details, which are then converted into a pattern via a series of electric pulses that stimulate the brain and allow the person to see a version of what is in front of them. Dr Wong said while it was “low-resolution vision”, it could allow people who were blind to regain their independence. “I think the thing to remember is that people who suffer from blindness are still very able people,” he said. He said the device would help them to at least see the outlines of stop signs or cars on the road. “It allows them to navigate the world,” he said. Leighton Boyd, 67, was diagnosed with retinitis pigmentosa at age five and told he would eventually go blind. Mr Boyd, who is also the chairman of Retina Australia, said technology like the Monash team’s device – called Gennaris — gave hope to people with little or no vision. “If there’s a technology that would help me, or our members, with that ability to get some mobility and identify things — friends, family, grandchildren — just seeing the faces of people, I would jump at that,” he said. Dr Wong and his team are now pushing for funding to begin human trials. “We’ve done the hard scientific work, the hard engineering work, now we want to provide the benefit to patients,” he said. HOW IT WORKSVision loss occurs when damage to optic nerves stops signals from being transmitted from the retina to the brainMonash University Gennaris bionic vision system has been proven in sheep with vision loss to bypass this damage and restore low-grade visionThis is done by connecting tiny implants — tiles 9mm by 9mm — to the surface of the brainUsing a headset, camera and goggles, the world is captured via video and sent to a vision processor (about the size of a smartphone)This detects the “most useful” information — for example, a car or stop sign — and is transmitted back to the brain via the implantInformation is then converted into a pattern through a series of electric pulses, which stimulate the brain and create a version of the sceneRestoration of retinal and visual function following gene therapyNew generation CRISPR technology lays foundation for therapeutics to treat a wide range of inherited ocular diseasesDate: October 19, 2020Source: University of California - IrvineSummary: A breakthrough study results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease.A breakthrough study, led by researchers from the University of California, Irvine, results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease.Published today in?Nature Biomedical Engineering, the paper, titled, "Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing," illustrates the use of a new generation CRISPR technology and lays the foundation for the development of a new therapeutic modality for a wide range of inherited ocular diseases caused by different gene mutations."In this proof-of-concept study, we provide evidence of the clinical potential of base editors for the correction of mutations causing inherited retinal diseases and for restoring visual function," said Krzysztof Palczewski, PhD, the Irving H. Leopold chair and a distinguished professor in the Gavin Herbert Eye Institute, Department of Ophthalmology at the UCI School of Medicine. "Our results demonstrate the most successful rescue of blindness to date using genome editing."Inherited retinal diseases (IRDs) are a group of blinding conditions caused by mutations in more than 250 different genes. Previously, there was no avenue available for treating these devastating blinding diseases. Recently, the FDA approved the first gene augmentation therapy for Leber congenital amaurosis (LCA), a common form of IRD which originates during childhood."As an alternative to gene augmentation therapy, we applied a new generation of CRISPR technology, referred to as 'base editing' as a treatment for inherited retinal diseases," said first author Susie Suh, assistant specialist in the UCI School of Medicine Department of Ophthalmology."We overcame some of the barriers to the CRISPR-Cas9 system, such as unpredictable off-target mutations and low editing efficiency, by utilizing cytosine and adenine base editors (CBE and ABE). Use of these editors enabled us to correct point mutations in a precise and predictable manner while minimizing unintended mutations that could potentially cause undesirable side effects," said co-first author Elliot Choi, also an assistant specialist in the UCI Department of Ophthalmology.Using an LCA mouse model harboring a clinically relevant pathogenic mutation in the RPE65 gene, the UCI team successfully demonstrated the therapeutic potential of base editing for the treatment of LCA and by extension other inherited blinding diseases. Among other results, the base editing treatment restored retinal and visual function in LCA mice to near-normal levels."After receiving treatment, the mice in our study could discriminate visual changes in terms of direction, size, contrast and spatial and temporal frequency," said Palczewski. "These results are extremely encouraging and represent a major advance towards the development of treatments for inherited retinal diseases."Gene therapy approaches to treating inherited retinal diseases are of special interest given the accessibility of the eye, its immune-privileged status and the successful clinical trials of RPE65 gene augmentation therapy that led to the first US Food and Drug Administration-approved gene therapy. Now, as demonstrated in this study, base-editing technology can provide an alternative treatment model of gene augmentation therapy to permanently rescue the function of a key vision-related protein disabled by mutations.This research was supported in part by grants from the National Institutes of Health, the Research to Prevent Blindness Stein Innovation Award, Fight for Sight, the Eye and Tissue Bank Foundation (Finland), The Finnish Cultural Foundation, the Orion Research Foundation, the Helen Hay Whitney Foundation, US Department of Veterans Affairs, and a Research to Prevent Blindness unrestricted grant to the Department of Ophthalmology, University of California, Irvine.Clinical Trial OpportunityRestoring Visual Function in RP with “Photoswitches”Retinitis pigmentosa (RP) is caused by a wide range of gene defects that leads to degeneration of the light-sensitive cells at the back of the eye (the photoreceptors). In a healthy retina, these photoreceptors contain special pigments that respond to light. These molecules change shape in response to a stimulus of light and trigger a cascade of chemical reactions in the photoreceptors which send signals to other cells “downstream” in the visual pathway. Without photoreceptors, the retina is unable to “catch” the light from our environment and visual signals are not produced, resulting in severe visual impairment.An exciting development in vision research was the discovery of synthetic molecules that can respond to light in a similar manner to the naturally occurring pigments. These molecules are called photoswitches. In animal models of RP, these photoswitches were able to restore vision and electrical function in blind mice. The chemicals are injected into the eye and are taken up by remaining healthy cells in the retina called retinal ganglion cells. The retinal ganglion cells are now able to respond to light and send visual information to the brain.The novel technology was developed in the USA and due to our experience in South Australia with retinal neuroscience and our experience in clinical translation, our team will be conducting the world first human trial of this technology.This is an exciting study with the potential to recover some vision in profoundly visually impaired individuals. We are aiming to recruit 6 individuals with severe RP. In this first trial, participants would need to have almost no remaining vision (no better than light perception).We are aiming to commence the study next year.I would be delighted to discuss the study further with Retina Australia members or anyone who would like further information.Professor Robert CassonConsultant Ophthalmologist RAHHead of Discipline of Ophthalmology & Visual SciencesUniversity of AdelaideFor further information, you can contact Professor Casson at robert.casson@adelaide.edu.au or call Mel Willoughby, Clinical Trials Coordinator on (08) 7074 2257?Luxturna Becomes First Ever TGA Approved Gene TherapyIn a landmark decision, the Therapeutic Goods Administration has approved use of the first ever gene therapy in Australia.This is an excerpt from an article originally published on Mivision, a journal for ophthalmic professionals.Luxturna (voretigene neparvovec) is now registered in Australia, for the treatment of patients with inherited retinal disease caused by pathological biallelic RPE65 mutations, who have sufficient viable retinal cells as determined by the treating physician. Luxturna is injected under the retina and carries a functioning RPE65 gene to replace the faulty one.This life-changing therapy brings hope to more than 15,000 affected Australians that treatment for all forms of inherited retinal disease may be possible.“The availability of Luxturna for the first time provides a treatment for people with inherited retinal diseases. Luxturna is the first gene replacement therapy for blinding eye conditions and one of the first gene replacements for any human disease. This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them. Although this treatment is for a rare genetic form of retinal dystrophy, this therapy will be the first of many providing hope and treatment for many people” said John Grigg, Professor and Head, Discipline of Ophthalmology, Save Sight Institute, The University of Sydney.“This is ground-breaking news in Australia, the first eye gene therapy soon to be available for clinical use. This one is for RPE65-related retinal vision loss. It is a revolutionary change for people with genetic retinal disorders like retinitis pigmentosa, because it provides real hope for therapies for this whole group of conditions” said Robyn Jamieson, Professor of Genomic Medicine, Head, Eye Genetics Research Unit, Children’s Medical Research Institute, and Head, Discipline of Genomic Medicine, University of Sydney.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, and loss of sharpness or clarity of vision,?potentially progressing to total blindness. ?Research shows that vision impairment and blindness in children frequently cause social isolation, emotional distress, loss of independence, or hazards such as falls and injuries.“Inherited retinal diseases are a group of conditions that disproportionally affect children and young adults and lead to blindness. In Australia, one in every 1,500 children is born with an inherited retinal disease. The patient burden is extremely high and the impact on family and friends can also be devastating. Retina Australia welcomes the news of this new targeted gene therapy that has the potential to improve vision and prevent progression towards total blindness for people with mutations in the RPE65 gene. This life-changing therapy brings hope to more than 15,000 affected Australians that treatment for all forms of inherited retinal disease may be possible. Retina Australia looks forward to learning how patients respond to Luxturna,” said Leighton Boyd, Chairman, Retina Australia.“Leber’s amaurosis is a devastating diagnosis for a child and their family. Gene therapy using Luxturna now offers some children with Leber’s amaurosis associated with the RPE65 gene, the opportunity to improve and retain their functional vision. This will allow the child to lead an independent life,” said Frank Martin, Clinical Professor in the Department of Paediatrics and Child Health and Ophthalmology at the University of Sydney.“The TGA registration of the first gene therapy in Australia, Luxturna, marks a milestone in reimagining medicine and has the potential to bring real value to patients in Australia living with inherited retinal dystrophy, their families and society as a whole,” said Richard Tew, Country President, Novartis Australia and New Zealand. “At Novartis, we bring together our heritage in ophthalmology and our investment in accelerating gene therapy to deliver on our commitment to help transform eye care for patients suffering from a variety of rare ophthalmic diseases including inherited retinal dystrophy.”Events in Your StateFriends of Retina Australia Perth go bush!The bush walking bug has bitten! Our four favourite “bushies” from the Perth Bush Walking Club, again volunteered to lead us on the Munday Brook trail. On Sunday 18 October, eleven of us met at 8am at the Karragullen Oval to walk a fairly flat 10 km loop through mostly shady forest. The terrain was more challenging than last time due to uneven, rocky ground and tree roots in places, but we all managed fine thanks to hiking poles and expert guiding. We were so lucky that there was still a profusion of wildflowers and we must have seen at least a dozen varieties, all identified and described to us. Bird calls too were identified, so it was a fun and informative walk. The fairly wide track allowed us to walk three abreast at times which made for easy chatting. We were also given up-to-date information and explanations about current research on Retinal diseases by Sue, the chief scientist from PYC, which we all appreciated. The weather was perfect with a cool start and then intermittent cloud cover as it got warmer. At the end of a most enjoyable few hours, we all gathered at a café in Pickering Brook for brunch, kindly sponsored by PYC. A perfect end to another amazing walk. Huge thanks to all who made it possible.If you would like to join future events like this in Perth, email friendsofra.perth@.au or call the Retina Australia office on 03-9650 5088.Our final Perth event for 2020 will be morning tea on Friday 4th December at 10am, Frank’s Café at the WA Art Gallery (close to Perth train station).Time to get together to reminisce about 2020, and then look ahead to the new year. Come and have your say and hear about exciting new developments in research in Perth. If you would like to join future events like this in Perth, email friendsofra.perth@.au or call the Retina Australia officeon 03-9650 5088.In Queensland, Retina Australia's monthly coffee morning at the Brisbane City Library has been postponed for the time being. We will be hoping to restart in 2021, but will always make safety our priority.In the meantime phone calls keep people in touch and checking on one another and we will explore the option of outdoor get togethers with small numbers. If you would like to be included on the email list and find out what's going on, just let Wayne know at retinafriends@ or speak to Graeme on 0409070345.Our South Australian lunch group are continuing their regular meetings. For more information contact Chris Hicks on 0497 491 115.This a call out to all Retina Australia members in SA, their friends and family. Have you ever considered starting your own ‘Friends Of Retina Australia’ group? You don’t have to have a retinal disease just an interest in supporting those who have. A coffee group perhaps, a walking group or a social group with no fixed agenda.Friends Of Retina Australia groups provide social and emotional support for members and their families, maybe sponsor an event or gathering for people to learn more about retinal diseases, maybe raise a few dollars for our research fund. What you do and how is up to you. We’d love to hear from you. For more information and to discuss possibilities contact Retina Australia on the toll free number 1800 999 870 or email info@.au.Or contact our South Australian Retina Australia Board member Peter Maas on 0431 012 142 or email peter.maas@internode..For our other groups, keep an eye out for future events as life starts to return to a new normal.Hot off the PressWorld Research Summary by Dr Cathy CivilThis quarter there have been less papers to review than normal. I presume that our researchers have been affected by COVID 19 along with everyone else.However, despite everything, the research into treatment and cures for IRDs continues to move optimistically forward. “DS-7080a” is an (anti-ROBO4) antibody which is now being researched and looks like it might be developed into an entirely new type of treatment for nAMD (neovascular Age-related Macular Degeneration). And it won’t need to be injected into the eye which has to be good. There is a device that was supposed to be used for home monitoring of AMD called the “ForeseeHome” Device. It was designed to be used regularly so that deterioration of AMD could be picked up and treated early, which sounded like a great idea and also looked promising in trials. However, in the real-world it just didn’t get used enough by the subjects to be useful. The potential is there, but perhaps it needs some refinement.Telemedicine in ophthalmology has progressed rapidly since COVID-19. It is a great screening tool for the assessment of lots of eye conditions including IRDs. The image processing software and the integration into medical records is getting better all the time, so that I expect teleophthalmology to be used more and more often in the future.Stick with your healthy lifestyle you lot……..a study showed that “eating a lot of carotenoids (the pigments in red, yellow and orange veggies), vitamins C and E, zinc, and omega-3, as well as maintaining optimal waist circumference, were found to substantially reduce the risk of developing AMD in people aged >50?years. By contrast, in addition to smoking and old age, obesity, a lot of red meat intake and omega-6 intake (omega-6 is good for lots of other things so I wouldn’t be avoiding this) might increase the risk of developing AMD.”This supports what I often recommend which is to follow the CSIRO healthy eating guide, do lots of exercise, quit smoking, drink within safe limits, manage your mental health, and see your GP for regular check-ups. If you are in good physical and mental shape then your immune system is strong and able to fight disease effectively.In a pilot test “SmartSight” electronic glasses improved the field vision for those with AMD and RP. E-glasses use technology to project a wide field of vision onto the bits of retina that work well and are looking like a great move forward for independence.Periodontal disease could make you more susceptible to AMD (and other diseases), so make sure you go to the dentist regularly!7 people who were blind from RP were fitted with Bionic Eyes (epiretinal prostheses) such as I have described before. However, this time, by using fine-tuned electrical stimulation of the retina, the subjects were able to see some colour which gave an extra dimension to the quality and usefulness of the new vision. That’s all of my snippets for this quarter folks. Have a very healthy and happy Christmas and New Year all of you. ……See you in 2021Sell your unwanted items and benefit Retina Australia at the same timeIf you are planning to sell something online, consider trying the selling platform Charity Bay – all you need to do is nominate Retina Australia as your chosen charity, and list your item. When it is sold, 95% of the sale price is donated to Retina Australia. Find out more at: Gift Ideas from Retina AustraliaThis year, why not give your friends and family a gift that supports the work of Retina Australia at the same time? Here are some ideas for ways to remember your loved ones and help raise money for eye research:Goodwill WinesGoodwill Wine sources quality boutique Australian wines and donates 50% of the profits to charities and non-profit organisations. By selecting Retina Australia when you order, we get your donation and you get awesome wine.In fact, the wines are so good they come with a money-back guarantee. The Age describes them as “seriously good” and Gourmet Traveller Wine says they’re “quality boutique wine”. Which means you can get great wine, while supporting a great cause. Cheers to that!Order at: for Purpose Raffle TicketsBuy some raffle tickets from Play for Purpose! The next draw is on Thursday 17th December, and first prize is a $250,000 prize package including a Landrover Evoque! Second prize is a $15,000 Freedom Furniture voucher, and third prize is a $7,500 Myer voucher, with loads of other wonderful prizes available too. Visit to buy your tickets now!(Unfortunately Play for Purpose tickets are not available to residents of WA).Entertainment GuideWhy not give someone a subscription to the Entertainment Guide? They get loads of great deals on restaurants, car hire, movies, shopping and travel. Buy a subscription today, and Retina Australia will receive 20% of the purchase price to go towards research. Buy your subscription here: in TouchVolunteers fighting blindnessRetina Australia Contact Details:Enquiry Line – 1800 999 870 Office – (03) 9650 5088 between 9:30am & 3:00pm Tuesday or Thursday.Email – info@.auWebsite - Facebook – – Retina Australia Staff:Faik Demir, Fundraising and Marketing ManagerSally Turnbull, Administrative OfficerJunxia Xu, Finance OfficerRetina Australia Board Members – 2020/2021CHAIRMAN: Leighton Boyd DEPUTY CHAIRMAN: Jeremy D’SouzaCOMPANY SECRETARY: Rosemary BoydDIRECTORS: Mary-Anne Carmody, Melanie Chatfield, Robert Craft, Julie Demarte, Joshua Ginpil, Peter Maas, Heather MackDisclaimerViews expressed in this publication are not necessarily those of Retina Australia. Retina Australia accepts no responsibility and disclaims all liability for such views as well as for any information contained in articles and summaries of research reports, including but not restricted to, the use of pharmaceuticals or other products, items of equipment or practices. Retina Australia strongly suggests that persons seek advice from their medical practitioners before adopting any changed procedures, practices or products. ................
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