In Focus (Retina International)

On this week’s episode of the RI In-Focus podcast, Dr. Orla Galvin welcomes Professor Jose Carlos Pastor from the Institute for Applied Ophthalmology (IOBA) in Valladolid, Spain, who is Director of the IOBA retina group.

Jose is also an ophthalmologist and joins Orla to discuss his experience of COVID-19 and its impact on ophthalmology which he believes is not being considered a priority health discipline, particularly from his experience within the clinic.

Additionally, Jose speaks very passionately about the need for adopting a multidisciplinary and more unified approach to advancing research in all specialties, something he feels will emerge after the COVID-19 pandemic as scientists from various research collaborate in earnest to develop a safe and effective vaccine.

In this episode of the In Focus podcast, Retina International CEO Avril Daly speaks with Elfride De Baere about the importance of receiving a genetic diagnosis for IRDs.

Elfride De Baere, MD, PhD, is currently Professor of Ophthalmic Genetics at Ghent University, clinical geneticist at the Center for Medical Genetics, Ghent University Hospital and Senior Clinical Investigator of the Research Foundation Flanders (FWO). Her research areas of interest are the genomic and pathophysiological basis of inherited retinal diseases; developmental genetics and gene regulation; and clinical and functional genomics. She is the coordinator of several European research consortia and member of the European Retinal Disease Consortium (ERDC) and the European Reference Network for Rare Eye Diseases (ERN-EYE). Elfride serves/ on the scientific program committee of ARVO and ESHG and is on the Scientific Advisory Board of the Foundation Fighting Blindness.

In this episode, Avril and Elfride discuss the importance of genetic testing for IRDs from the perspective of research. Elfride tells us of the benefits of receiving a genetic diagnosis for retinal patients and their families, as well as the challenges that people in different regions face in accessibility. They close the episode by discussing what gives them hope for the future of genetic testing, including electronic platforms, educational programs, international registries, and more.

In this episode of the In Focus podcast, RI Communications Officer Dana Hufe speaks with Claudette Medefindt and Karen Denton from Retina South Africa. Claudette Medefindt is the Head of Science and Patient Services for Retina South Africa and has been a patient advocate for the past 40 years. Karen Denton heads Advocacy and Education there, and is a worldwide expert on AMD and diabetes.

They discuss the impacts of the Covid-19 pandemic on the retina community—on eye health, daily living, and the progress of retinal research. They also offer advice for adjusting to the challenges of the pandemic, through living a healthy lifestyle and utilizing technology for assistance.

For more information on the impacts of Covid-19 on the retina community, you can visit our World Retina Day press release.

In the first episode of our new podcast series, Avril speaks with Retina International President Christina Fasser about the effect COVID-19 has on her life as a person living with Retinitis Pigmentosa, specifically the severe consequences of social distancing on her active lifestyle and the adjustments she has made to keep physically active. Christina also explains how she is using this extra time at home in a positive way, to reconnect with friends and family, revisiting old interests and to practice the art of handwritten letters.

In this episode of the In Focus Podcast, we sit down with former RI president Christina Fasser to talk about the challenges the retina community face when emerging from lockdowns into the “new normal.” Christina talks about adjusting to changes in one’s surroundings, attending regular eye check-ups, and re-entering the job market, as well as what governments and policymakers can do to ease these transitions.

In episode two of In-Focus, the new Retina International podcast series, Avril is joined by Claudette Medefindt and Karen Denton from Retina South Africa. Claudette has been involved with Retina South Africa for 40 years and is currently Head of Science at Retina South Africa, as well as Deputy President of Retina International, while Karen holds the position of Age-related Macular Degeneration (AMD) Ambassador, bringing with her a wealth of experience in patient counselling and education.

In this episode, Claudette and Karen discuss how the current COVID-19 crisis has impacted South Africa, with lockdown measures enforced and the strain this has put on the healthcare system. Claudette and Karen also delve into the growing concerns among people living with retinal conditions who are receiving anti-VEGF, highlighting certain barriers to treatment which exist and what efforts are being made to ensure more equitable healthcare.

Claudette and Karen also talk to Avril about Retina South Africa’s research projects both past and present, particularly genetic profiling of the indigenous population with respect to IRD’s. They explain how these genetic tests are made available to people who would otherwise not be able to access it and discuss the remarkable progress they have made, achieving a genetic result for 60% of participants and contributing to clinical trials.

This episode takes us through the challenges facing patient organisations around the globe in the current climate, but most importantly highlights the success that can be had with dedication, organisation and a clear focus.

This week, RI Science Communications Executive, Seán Heagney welcomes Petia Stratieva, MD, PhD to the In-Focus podcast. Petia is a medical doctor and passionate patient advocate as a person living with Retinitis Pigmentosa who also has significant experience working in industry and thus understands the perspective of many stakeholders within the retina community.

In this episode, Petia explains to Seán the challenges she and many others face to raise awareness around retinal conditions, including inherited retinal diseases (IRDs) in Bulgaria and Eastern Europe and how this inspired her to establish Retina Bulgaria in 2018.

Petia also speaks in depth about the importance of inter-organisational engagement throughout Europe and the globe, as well as the need for transnational partnership to support the establishment of smaller and more recently founded organisations to help them grow and contribute as a vital part of the global community.

In the second episode of series 2 of the In Focus podcast, RI’s Fiona Waters speaks with Martin Sigsworth about career development for people with low vision.

Martin Sigsworth is the Senior Employment manager at Thomas Pocklington Trust. He is passionate about enabling blind and partially sighted people to achieve their employment goals and feels with the right workplace adjustments any career is possible. A blind person himself, he has worked in a number of sectors from media to recruitment and uses all of these experiences to design and implement employability programmes which support blind and partially sighted people into work.

In this episode, Martin talks about his work with Thomas Pocklington Trust, and the resources they provide for visually impaired people in their career search, including CV templates, mock interviews, and much more. He also discusses the importance of resilience and seeing a visual impairment as a benefit to any organisation. The guiding advice laid out in this interview is an asset to any job seeker looking to begin or further develop their career.

This episode is a true story that comes from Visionaries, a series created in collaboration with Retina International and Roche to highlight the unique experiences and challenges faced by people living with retinal conditions and their loved ones.

This is Jess’* story. She received an unexpected diagnosis of diabetes-related retinopathy and DME shortly after graduating from university.

In the beginning, Jess found treatment challenging and received little support. She became depressed, but a psychiatrist helped her feel more positive about the future.

“It’s difficult, but I’m determined to live my life as an ordinary person, to work, and have my own independence," Jess says.

Retina International CEO Avril Daly hosts this podcast with special guest commentator, Renza Scibilia, diabetes advocate who writes at ‘Diabetogenic’.

* This is a real story of a young woman living with DME in China. To respect her wish to remain anonymous, we are using the pseudonym of Jess and a voiceover actor in this podcast.

This week, Avril welcomes Russell Wheeler to the Retina International In-Focus podcast. Since the diagnosis of his son with Leber Hereditary Optic Neuropathy, a rare and inherited retinal condition, Russell has been a long-standing patient advocate within the retina community, working at a European level and as a patient representative on the board of the ERN-EYE.

In this episode, Russell explains in great detail the Health Technology Assessment (HTA) process, which is designed to collect and summarise information about a health technology such as drugs and medical devices with respect to their safety and effectiveness, as well as ethical, legal and other issues.

In his conversation with Avril, Russell highlights the importance of patient engagement and involvement with the HTA process, and how, in his experience, having the patient perspective and voice as a key component in the decision making process has benefitted the outcomes for patient communities.

This week, Dr. Orla Galvin Director of Research Policy at Retina International hosts and welcomes  Marina Sutter, Interim Chair of the Retina International Youth Council to our latest episode in a series of In-Focus podcasts.

At the age of 12, Marina was diagnosed with an inherited retinal disease (IRD) called Stargardt Disease, a form of Juvenile Macular Degeneration. Although a challenging time for her, Marina remembers fondly the incredible support she received from her teachers and parents, who supported and empowered her throughout her journey. However, through Marina’s involvement and experience in the retina community at large, she is acutely aware that many young people have not had the same positive experiences, with many lacking similarly empowering figures in their lives.

Through her role at Retina International as Interim Chair of the Retina Youth Council, Marina is working to provide comprehensive resources and social supports for young people living with retinal degenerations globally. Additionally, Marina believes this will help to establish a wide-reaching and welcoming community for young people to share their experiences, meet other young people in similar circumstances and realise they are not alone, something Marina regrets to admit she has heard too often from young people in the past.

In episode 9 of the In-Focus podcast, Avril is joined by Chad Andrews from Fighting Blindness Canada (FBC). Chad works at FBC as Senior Advisor on Policy, Equity and Access. In their discussion, Avril and Chad discuss the multifarious projects and educational initiatives he has been involved in with FBC, including Vision Class and the Young Leaders Program as well as other newly established projects to support FBC’s members during COVID-19.

Chad speaks in detail about some of FBC’s current initiatives, including Vision Quest and FBC’s ongoing webinar series View Point, which ranges from presentations on scientific research, such as stem-cell therapy, to discussions on social distancing and coping with sight loss during COVID-19. Registration for these webinars is free and can be done on the FBC website, where recording for previously-held meetings can also be found.

Chad also explains to Avril the burden-of-illness studies being conducted by FBC during this time to understand the challenges and obstacles of living with vision loss from the patient’s perspective, as well as their Cycle For Sight fundraising event which is scheduled for Saturday June 20th 2020.

It’s certainly not an episode to be missed!

In this episode, Retina International Communications Officer Dana Hufe talks with legally blind culinary expert Mary Mammoliti. Mary is a disability advocate and the owner of the blog and Instagram account Kitchen Confession. She also has a food segment on a biweekly radio show and has made TV appearances on The Marilyn Denis show and Breakfast Television among others. Mary hosts two podcasts and has just begun the first season of her television show Dish with Mary.

In this episode, Mary talks about how her diagnosis of retinitis pigmentosa led her to leave her career in finance and become a chef. Mary says that she is now the happiest she has ever been, even with less sight. She tells us about her interesting life, cooking with crickets, and how she navigates the kitchen using all her senses. She also discusses the importance of inclusivity and the presence of people with disabilities in the media.

You can learn more about Mary from her blog and  Instagram account, both titled Kitchen Confession. You can also watch her show Dish with Mary on Accessible Media Inc.

Fiona Waters begins series 2 of Retina International’s In Focus podcast by welcoming Laura Whelan.

Laura Whelan is a third year PhD candidate in Prof. Jane Farrar’s lab in Trinity College Dublin. Laura’s work is carried out as part of the Target 5000 study, which aims to provide clinical and genotyping services for people living in Ireland with an inherited retinal disease. Laura has a particular interest in non-coding DNA variants and their role in these diseases. Laura is also interested in making science more open to the public and can be found on Twitter and Instagram @ phdwithlaura, where she shares her work and life as a PhD student.

In this week’s episode, Laura talks about her research and who and what motivated it. She also discusses patient engagement and why it’s so valuable for researchers to involve patients in their process. In addition, Laura discusses science communication, how she became interested in it, and why she chooses to share her research with the world. You can learn more about Laura and her life as PhD student by visiting her social media pages.

In this week’s episode of the Retina International In-Focus podcast series, Avril welcomes Professor Joe Carroll to speak about adaptive optics and how it is revolutionising retinal imaging techniques, to produce more detailed and accurate images. Joe is a Professor of Ophthalmology and Visual Sciences at the Medical College of Wisconsin and is the head of their Advanced Ocular Imaging Program (AOIP).

Adaptive optics is a form of technology applied to imaging techniques to compensate for imperfections within the eye which interfere with the quality of images and ultimately improve our understanding of how retinal conditions develop and progress. Adaptive optics is used to provide us with a better understanding between the structure and function of the visual system and has been very successful in helping to monitor retinal disease progression cell-by-cell.

In today’s episode, Joe talks Avril through the challenges that retinal professionals and researchers face when examining the visual system and identifying retinal diseases at an early stage to allow for effective treatment intervention. Although the retina is very accessible for imaging, the detail and high resolution required for examining at the cellular level is not available in current imaging techniques, such as fundus photography and optical coherence tomography (OCT).

This is due to imperfections within the eye which distort the captured images and prevent images which can assess the integrity of the eye at the cellular level. Joe explains how adaptive optics can correct for these imperfections and has been used in experiments to study how the eye responds to treatment by examining the rate of cell survival in treated eyes compared to untreated eyes. In this way, improvements made to the visual system can be recognised at a deeper level, instead of simply using visual function as the only indicator of a successful therapy.

As this technology advances and becomes more sophisticated, the incorporation of adaptive optics with existing retinal examination techniques will allow for a greater understanding of how retinal diseases develop and indicate appropriate times for treatment which will help maintain greater visual capacity.

For this episode of the In Focus podcast, in honor of Diabetes Awareness Month, RI CEO Avril Daly speaks with consultant ophthalmologist Professor David Keegan. Professor Keegan is a graduate of the Royal College of Surgeons in Ireland and now specialises in medical and surgical retinal disease including paediatric retinal surgery and diabetic retinal disease. He runs the Mater Multidisciplinary Inherited Retinal Degeneration and Diabetic Retinal Treatment Services along with the Retinal Clinical Trials Unit. He is the lead for Ireland’s collaborative application to the European Reference Network for Rare Eye Disease (ERN-EYE) and is also a member of the Retina International Scientific Medical Advisory Board (SMAB).

In this episode, Avril and Professor Keegan discuss how diabetes affects the eyes and why early detection is so important in preventing sight loss. Keegan tells us how screening for diabetic eye diseases works, and what preventative measures and treatments are available to preserve sight. They also discuss the theme for this year’s World Diabetes Day, “Access to Diabetes Care: if not now, when?” Unfortunately, in many parts of the world, people with diabetes don’t have access to the education and screening programs that are vital to their eye health.

Professor Keegan also talks about the stigma around diabetes, and why it’s important to be compassionate and understanding towards people with this lifelong condition. Diabetes can affect people of all ages, all around the globe in many different ways. With over 500 million people in the world living with diabetes today, it is vital that they receive the ongoing care and support needed to manage their condition, avoid complications, and maintain their vision.

If you’d like to learn more about this year’s World Diabetes Day, visit https://worlddiabetesday.org/.

For more information on Diabetes-related Eye Diseases, please visit the DED toolkit (link) on our website: https://ded.retinaint.org/

In this week’s episode of “In-Focus”, Avril welcomes Professor Juliana Sallum to the podcast. Juliana is an ophthalmologist who specialises in inherited retinal degenerations (IRDs) and genetics and is a professor at the University of Sao Paulo, Brazil.

In this podcast, Juliana takes us through the unprecedented challenges that she and her colleagues face as ophthalmologists during COVID-19. She explains that although the current circumstances have resulted in physical consultations being postponed, virtual contact and telemedicine have emerged as key players which allow her to check in with her patients, discuss any concerns they may have and ensure that they can prepare a treatment strategy, once COVID-19 has passed.

While many clinics have been temporarily taken over to be used for COVID-19 patients in Brazil and in other parts of the globe, Juliana reassures us that emergency operations, such as retinal detachments are still a priority and will be operated on as necessary. People living with other retinal conditions, including age-related macular degeneration (AMD) and diabetes-related eye diseases (DEDs) who receive anti-VEGF treatment are also being thoroughly assessed remotely, using virtual communication tools to identify those who are stable and others who require more urgent treatment.

Although telemedicine and the virtual communication tools used right now to check in with patients are not perfect, Juliana expresses her belief that this style of remote access to care will be a key strategy in the future to ensure more equitable access to quality healthcare, in particular people in the ageing population and will also help to relieve some of the strain on our healthcare systems. Planning for the aftermath of COVID-19 and organising a strategic plan to deal with the long waiting lists of patients to receive treatment is a primary part of Juliana’s work at this time and she believes telemedicine will have a crucial role in facilitating this.

Regarding clinical trials, Juliana explains that every effort is being made to accommodate people in clinical trials and adjust the scheduled treatment intervals without disrupting the legitimacy of the trial. First and foremost is patient safety however, and all these clinical trials are re-organised with this as the central focus.

This is a really insightful and comprehensive interview in which Juliana addresses many pressing concerns in the retina community, particularly among people living with chronic retinal conditions that require regular treatment and how this is being adjusted in light of COVID-19.

In episode 5 of the In-Focus podcast, Avril is joined by Michael Griffith. Michael was a founder of Fighting Blindness Ireland in 1983 and has been a central figure in the retina community, advocating for the progression of retinal research and the establishment of policies which will support people living with retinal conditions, for over 20 years.

Michael lives with Retinitis Pigmentosa and is a firm believer in the power of mindfulness to re-connect us with the present moment, develop resilience and offer tools to help us cope with the struggles of daily life. In addition to serving the retina community, mindfulness is beneficial for everyone and is especially important during these challenging times in face of the COVID-19 pandemic.

Since retiring as CEO from Fighting Blindness Ireland, Michael has been involved in promoting mindfulness in Ireland and abroad, and is a proud co-founder of Mindful Nation Ireland. Through this work, Michael hopes to spread the practice of mindfulness and promote its integration into wider society, engaging with politicians and leaders both in Ireland and on an international scale so that we can begin to lead a more content and fulfilling life together.

This week, Avril welcomes Professor John Flannery to the Retina International In-Focus podcast. John is Professor of Vision Science and Neuroscience in the Department of Molecular Biology in University of California, Berkeley.

In this episode, John’s explains the concept of optogenetics; a technique which involves light and genetic engineering (editing the genetic information) to control neuronal cells, and how he is applying it in his research to restore normal light-sensing capability to the photoreceptor cells of the retina and treat retinal conditions.

Photoreceptor cells are responsible for detecting light which enters the eye and converting it to electrical impulses which are delivered to the brain, so images can be formed of our external environment. As many common and rare retinal conditions are caused by the degeneration and death of the rod and cone photoreceptor cells to cause a decline in peripheral or central vision respectively.

In addition to discussing optogenetics, John also discusses other forms of gene therapy which are being investigated in treating a number of common and inherited retinal diseases, including Age-related Macular Degeneration and Leber Congenital Amaurosis.

In episode 8 of the In-Focus podcast, Avril welcomes Carol Brill to speak about her life and experience as a person living with Usher Syndrome during the COVID-19 pandemic.

In addition to being on the Board of Directors for Fighting Blindness Ireland and CureUsher, Carol is very involved with the Retina International Usher Syndrome Special Interest Group and leads a very active lifestyle, as a member of her local Stackstown golf club and Irish Blind Golf.

In her interview with Avril, Carol speaks openly and honestly about how the current pandemic has impacted her as a person living with a visual impairment,  and the issues she has faced with respect to the accessibility of many virtual platforms for the visually impaired community. As these means of communication become more prominent, Carol recognises that special considerations will need to be made to make these technologies more inclusive and accessible for the retina community.

Additionally, as a person living with what she describes to be an “invisible” disability, Carol highlights the importance of raising awareness around the reality of retinal conditions and other disabilities which are not so easily recognised and urges us to become a more compassionate and considerate society post COVID-19.

This week, Avril welcomes Brian Mansfield, PhD from Foundation Fighting Blindness to the RI In-Focus podcast.

Brian is Chief Scientific Officer and Executive Vice President of Research with FFB and joins Avril to discuss the MyRetina tracker registry; a research database of people and families affected by rare inherited retinal degenerative diseases (IRDs), which is provided by FFB.

Brian explains the importance of knowing your genetic code and how the MyRetina tracker works to help people understand the condition that they live with. In this way, it helps to accelerate the discovery of treatments and cures for IRDs by sharing de-identified information within the research and clinical communities to enhance our understanding of the genes causing the disease, how the disease progresses and how it impacts people’s lives. For people that are interested in joining the registry, Brian also offers information so that you can get involved.

If you wish to enquire further about the registry, please contact: coordinator@MyRetinaTracker.org

Further information on Genetic Testing is available on the Foundation Fighting Blindness website:

Open Access Genetic Testing Program

General Genetic Testing Information