Top of front page THE ACHIEVER SUMMER EDITION DECEMBER 2008 ROSS HOUSE, 4TH FLOOR 247 - 251 FLINDERS LANE MELBOURNE VIC 3000 PHONE (03)9650 5088 FAX (03) 9639 0979 Email: support@retinavic.org.au Web site: www.retinavic.org.au SUMMER NEWS – BUMPER FINAL ISSUE FOR 2008! * New Feature Articles * Retina Aus (Vic) News Update * Lots on Research Developments * Question Time * Cars of the World Report Season’s Greetings and Best Wishes for 2009! Inside FROM THE PRESIDENT CARS OF THE WORLD FEATURES: FLYING BLIND YOUNGEST PATIENT TO HAVE NEW EYE SURGERY RESEARCH UPDATE: STEM CELLS INC ANNOUNCES PRE-CLINICAL RESULTS NEURAL STEM CELL DEVELOPMENT GENE THERAPY RESTORES VISION IN MICE WITH RETINAL DEGENERATION REPORT ON RETINA INTERNATIONAL CONFERENCE 2008, HELSINKI FFB POSITION PAPER: STARGARDT DISEASE AND VITAMIN A QUESTION TIME SNOWY OWLS, CHRISTMAS CARDS AND LAST WORD End of front page Beginning of article Board News We are coming to the end of a very busy year. At our Annual General Meeting held on Saturday 11 October, a new Board was elected for the forthcoming year. This Board, whose membership is listed below, is a mix of new and well established members and I would like to take this opportunity to thank them for volunteering their time to increase awareness of inherited retinal eye diseases within the broader community and to expand our support services to members. As we are allowed eight members on our Board, we still have one vacancy, hence if you are interested in volunteering for the Board, please do not hesitate to contact me at the office to discuss your interest. President Leighton Boyd Vice-President Rick Clarke Secretary Rosemary Boyd Treasurer Graham Owen Board Member Charles Rogers Board Member Justin Marshall Board Member Helen Furmanczyk A very big thank you to Charles Rogers who has so capably carried out the role of President for the previous three years. He has organised the “Cars of the World” event alongside his other responsibilities and consequently has assisted in raising a great deal of money for research. Charles was also instrumental in the establishment of our link with the fundraising group behind “Magic/Movie Mania” which raises funds to send disabled children to a magic show, or to the movies, and through this fundraising also supports Retina Australia Victoria. Charles will remain on the Board, continuing as the event manager for “Cars of the World”, and contributing to the work of the Board as we work together in the pursuit of the Retina Australia (Vic) objectives. Also thank you to Jane Evans and Fiona McNabb who recently retired from the Board. Both of these ladies have no direct connection to our members, or members of the wider community who suffer from retinal disease, but they gave freely of their time to assist the Board in the financial and general management for an association such as our not-for-profit organisation. Jane was also responsible for the successful implementation and analysis of our member survey. I would also like to thank David Foran who has been our representative on Vision 2020 for a number of years for his work as a delegate to that organisation. It has been extremely helpful for Retina Australia (Vic) to have someone who understands vision loss, and the work of our organisation, representing us in this very influential organisation. Unfortunately the annual membership costs have risen excessively and the Board has made the financial decision to relinquish our membership. We will be indirectly involved because our national organisation, Retina Australia, will continue their membership and share the knowledge obtained across the state groups. Our delegate will be the national president Graeme Banks. Bendigo Support Group Congratulations to Mark Boyd and his Bendigo and District Support Group. They have recently had their twelfth anniversary and Christmas Luncheon. This group meets five times per year, usually over a meal, and discusses items of mutual interest in a very supportive and sociable atmosphere. Well done! If any member would like to start up their own group, particularly in a country or outer suburban area, please do not hesitate to contact the office and we may be able to assist you in locating fellow members who live near by, or who have similar interests. We can help with building the foundations for such groups and assist with the management and organisation of them. Let us know if you are interested. New Telelink We are about to embark on a new Telelink service which will be auspiced by Vision Australia. To this end we are seeking members interested in participating in such a telephone link, commencing in February or March 2009. This will involve a one hour per week telephone link up, for an initial trial period of ten weeks, for a small group of interested people chatting to others affected by Retinal Dystrophies, about common issues, listening to a guest presenter, having a discussion on a set topic or just having a general chit chat. This is a great opportunity for members who live in remote or country areas, or who are confined in their own homes, to communicate regularly with others. We are currently seeking about 8-10 people to participate in this pilot project so if you are interested please contact Mary at our office and she will be only too pleased to take your details. If this pilot Telelink is successful, we have the opportunity to expand this service, so the more names we have of interested members, the more likely we will be to offer links via the telephone to others. New Website We are currently in the process of modernising and updating our website with up to date information. There have been various attempts at trying to keep this website updated and we have reached the stage where the entire site needed to be changed. Thanks to the many hours of hard work by one of our volunteers Judi Potts, the new accessible website is beginning to take shape. Have a look for yourself, and watch the progress being made. For those of you who are interested, log on to "http://www.retinavic.org.au . If you have any suggestions for improvements, additional information, etc, please do not hesitate to contact the office and let us know. New Research Project I am pleased to advise that at a teleconference held Tuesday 26 November, the Board of Retina Australia accepted the proposal from the Sir Charles Gairdner Hospital, Perth, Department of Medical Technology and Physics, for the establishment of an Australian inherited retinal disease family testing program and DNA register, to be known as the IRDR (Inherited Retinal Disease Register). The aim of this project is to identify all families in Australia affected by an Inherited Retinal Disease, and to make available to approved researchers DNA and accompanying non-identifying information obtained from appropriate members of those families, in order to guide future therapeutic research and clinical trials in Australia. Participants will be required to donate either a blood (preferred) sample or saliva from which the DNA will be collected and stored in the WA DNA Bank in designated secure facilities. DNA will be collected from both affected and unaffected individuals within a family. The project will commence on 1 April 2009 and we will be seeking volunteers from members who wish to participate in this project commencing March 2009. Further information will be available from the Office and in the next edition of the Achiever. This is the most significant opportunity for members to participate in valid, and relevant, research since the commencement of our organisation in 1979. So please be involved, stay tuned for the information which will be forthcoming in the new year. Achiever Format As you are no doubt aware, the Achiever is printed in a variety of formats which include large print, email and up until this edition, audio tape. Due to changes in technologies we will be moving from audio tapes to the use of audio CDs from this edition onwards. Consequently we need to send a very big thankyou to two of our members for their outstanding contribution, given unstintingly for so many years, to ensure that the audio tapes were delivered to members who requested receiving their copy of the Achiever in this format. Jocelyn Davies, a former Council member, read the newsletter on to audio tape for us, thereby setting up the master copy for each edition. She was ably assisted by our life member Carmel Georgalas who arranged for the duplication of the tapes and the mailing out of these to relevant members. Thanks Jocelyn and Carmel for a voluntary job well done. Leighton Boyd End of article Beginning of article From the President Flying Blind Jim O'Neill asked for help after he was went blind 40 minutes into a flight from Scotland to southeastern England. The BBC reported that O'Neill, flying a small Cessna aircraft, lost his sight 5,500 feet in the air. "It was terrifying," O'Neill said. "Suddenly, I couldn't see the dials in front of me. It was just a blur. I was helpless," O'Neill said from hospital. "I owe my life -- and the lives those of the dozens of people I could have crash-landed on -- to the RAF. The air force said in a news release that O'Neill initially believed he'd been "dazzled" by bright sunlight, and made an emergency call for help. He then realized that something more serious was happening, and said, "I want to land, ASAP." RAF Wing Commander Paul Gerrard was just finishing a training flight nearby and was drafted in to help the stricken pilot. Gerrard located the plane, began flying close to it and became O’Neill’s 'eyes' by radioing directions to bring him down to safety. "For me, I was just glad to help a fellow aviator in distress," he said. "Landing an aircraft literally blind needs someone to be right there to say 'Left a bit, right a bit, stop, down,'" Gerrard said. "On the crucial final approach, even with radar assistance, you need to take over visually. That's when having a fellow pilot there was so important. O'Neill's son, Douglas, said his father is an experienced pilot who has flown for nearly two decades. The 65-year-old is recovering in hospital where he is beginning to regain his sight. "The doctors have confirmed that he suffered a stroke from a blood clot, but he doesn't seem to have suffered any other ill-effects apart from losing his sight," Douglas O'Neill said. "He says he went blind very suddenly and then, once he'd got over the shock, was able to distinguish a bit of darkness and light." In a recording posted to the BBC's news web site, Gerrard gives O'Neill instructions - "a gentle right hand turn, please," is called for at one point - and he can be heard apologizing. "You could hear the apprehension in his voice over the radio and the frustration he was experiencing," said radar controller Richard Eggleton. "I kept saying 'Are you visual?' and he would reply 'No sir, negative, I'm sorry sir.' He kept on apologizing. With Gerrard talking him down, O'Neill's plane hit the runway and bounced up again, the RAF said. It did the same on the second touchdown. On the third, O'Neill was able to keep his plane on the ground. "It's one of those things you might hear about happening in some sort of all-action film but it's hard to believe what they did," Douglas O'Neill said of the RAF. "They were just tremendous." "It is a miracle Jim is here today," his wife Eileen, 63, said. "The RAF are heroes." O'Neill's son, Douglas, 37, managing director of his father's conference and events management company, said: "If you were walking down the road or driving a car it would be bad enough, but at 15,000 feet it's a whole different ball game. He thought 'if I don't land the plane I will be dead' but he showed incredible determination. "The RAF did a wonderful job to get his wheels down on the ground. I very much doubt whether anyone other than the RAF would have been able to handle this situation." O'Neill has started to regain his sight in one eye. References: Jennifer Quinn, Associated Press, 8 November, 2008 Will Trump, Vancouver Sun, 8 November, 2008 End of article Beginning of article Light up your locks with a Super Bright Mini Flash Light for a mere $4.00 Contact the office for details of how to purchase End of article Beginning of article Youngest Patient to Have New Eye Surgery In September, an 8-year-old from Saratoga County, Corey Haas, became the youngest person in the world, and the second American, to undergo the groundbreaking surgical procedure, which uses gene therapy to treat a rare, degenerative eye disease called Leber's Congenital Amaurosis. So far, 10 people have received the surgery, seven at the Children's Hospital of Philadelphia and three at Moorfields Eye Hospital in London. Corey suffers from night blindness, is considered legally blind, and is also extremely nearsighted. Before the experimental surgery, Corey’s schoolwork had always been printed on 11-by-17 inch sheets of paper, in large, easy-to-read type. His books were in extra-large print. But after the surgery, the school began printing his classwork on regular-sized pieces of paper and he began using regular-sized books. His vision is still far from perfect, and improvement is expected to be gradual. But he and his parents have already noticed big changes. At school, Corey still uses a special "clarity" machine, a 12-inch computer monitor hooked up to a camera, to magnify and brighten the writing on the chalkboard. He reads worksheets with the aid of a lamp with a 100-watt bulb and a magnifying glass. His equipment occupies a second desk. But it's getting easier for him to see faces. The pupils of his eyes, in the past always fully dilated, began changing shape after the surgery, becoming smaller in bright sunlight. The surgery is yet to be approved by the Food and Drug Administration, but Corey's parents didn't hesitate. Because Leber's is degenerative, Corey's vision was expected to worsen over time, with or without the surgery. Leber's, which prevents the retina from processing light, is caused by recessive genes, which means both parents carry the genes and pass them on to their child. The experimental surgery Corey received was developed by a husband-and-wife medical team, eye surgeon Dr. Al Maguire and gene therapy expert Dr. Jean Bennett, at the Children's Hospital of Philadelphia. The couple figured out how to insert a virus carrying a healthy copy of the defective gene into the retina using a tiny needle, about the size of two eyelashes. During surgery, billions of genetically modified viruses were delivered to Corey's retina; these viruses were able to produce an enzyme Corey's eye was incapable of making on its own. In interviews, researchers have said they hope the gene therapy technique could be used to treat a wider variety of visual disorders, such as macular degeneration. Reference: Sara Foss, Schenectady Gazette, Schenectady, NY, USA, 2 November 2008 End of article Beginning of article StemCells, Inc. Announces Preclinical Results Showing its Proprietary Human Neural Stem Cells Can Prevent Vision Loss StemCells, Inc. has reported that its proprietary HuCNS-SC(R) product candidate (purified human neural stem cells), when transplanted into a well-established animal model, can protect the retina from progressive degeneration. This promising study was conducted by Dr. Raymond Lund, a researcher and professor at the Casey Eye Institute at Oregon Health & Science University (OHSU) and his research team. Dr. Lund presented the study results at a seminar sponsored by the Foundation Fighting Blindness at the University of California on 1 November. "This study confirms the results of previously published academic studies evaluating neural stem cell transplantation into the retina and provides us with the rationale to pursue clinical testing of HuCNS-SC cells for retinal disorders," said Stephen Huhn, MD, FACS, FAAP, Vice President and Head of the CNS Program at StemCells, Inc. "We are already conducting additional preclinical studies and a pre-IND meeting has been scheduled with the FDA for December of this year to determine the pathway to a successful IND filing." In this preclinical study, Dr. Lund and his co-investigator at OHSU, Dr. Peter Francis, transplanted HuCNS-SC cells into the Royal College of Surgeons (RCS) rat, a well established animal model of retinal degeneration. In the RCS model, a genetic mutation causes dysfunction of the retinal pigmented cells. Dysfunction in these cells, whose normal function is to support photoreceptors in the eye, causes progressive loss of the photoreceptors and degeneration of the retina, and ultimately, loss of visual function. Photoreceptor loss in the RCS rat begins as early as three weeks of age and by 24 weeks all photoreceptors are typically lost. In the study, the researchers transplanted HuCNS-SC cells into one eye of 21-day-old RCS rats while keeping the opposite eye as the control. Animals were evaluated starting at day 40 (19 days post transplant) and then at routine intervals up to 150 days post transplant. The evaluations showed that the HuCNS-SC cells survived the transplants and engrafted, and the eyes transplanted with the cells showed preservation of the photoreceptors and stabilization of visual function. The HuCNS-SC cell has proven to have very robust survival, preserving vision in our rat model at time points beyond six months," commented Dr. Lund. "These data are very encouraging and suggest cell-based therapies for retinal degeneration can be a viable treatment approach." Dr. Francis, a retina specialist and researcher, added, "I am excited by our burgeoning collaboration with StemCells Inc. The results of the early preclinical studies support the potential for these cells to treat retinal degenerative disease. I am especially excited by the fact that the cell is currently being tested in a clinical trial for Batten disease, a disorder of the central nervous system, which should make the transition from the laboratory to clinical use in retinal disease that much easier." Throughout his career, Dr. Lund's research has centered on the response of the central nervous system to injury and mechanisms of rescue and repair. Focusing on the retina and its connections with the brain, he pioneered eye transplants in mammals in the late 1970s. Currently, he is investigating the use of cell-based therapies for photoreceptor degeneration in animal models of human disease. About HuCNS-SC Cells StemCells' lead product candidate, HuCNS-SC cells, is a purified composition of normal human neural stem cells that are expanded and stored as banks of cells. The Company's preclinical research has shown that HuCNS-SC cells can be directly transplanted; they engraft, migrate, differentiate into neurons and glial cells; and they survive for as long as one year with no sign of tumor formation or adverse effects. These findings show that HuCNS-SC cells, when transplanted, act like normal stem cells, suggesting the possibility of a continual replenishment of normal human neural cells. Source: MarketWatch, 30 October 2008, USA End of article Beginning of article Press Release - A Key Mechanism Regulating Neural Stem Cell Development is Uncovered A research team at the Institut de Recherches Cliniques de Montreal (IRCM), funded by the Foundation Fighting Blindness - Canada and the Canadian Institutes of Health Research (CIHR), discovered a novel mechanism that regulates how neural stem cells of the retina generate the appropriate cell type at the right time during normal development. These findings, published today in the renowned journal Neuron, could influence the development of future cell replacement therapies for genetic eye diseases that cause blindness. In their report, the scientists show that a gene called Ikaros is expressed in the most immature retinal stem cells in the mouse, which are "competent" to generate all seven different cell types that compose the retina. But this gene is not expressed in the "older" stem cells, which are more restricted in their differentiation potential and produce only the late-born neurons. "By studying the retina of a mouse in which the Ikaros gene was inactivated, we found that the generation of early-born retinal cell types was impaired, whereas the generation of the late-born retinal cell types was not affected," explained Dr. Michel Cayouette who led the study. In contrast, forcing the expression of Ikaros in older retinal stem cells, which have normally turned off its expression, was sufficient to give back the competence to these cells to generate early-born neurons. Overall, these results indicate that the expression of Ikaros in retinal stem cells is both necessary and sufficient to confer the competence to generate early-born retinal neurons. The identification of adult retinal stem cells in recent years has opened up the possibility that such cells could one day be used to replace damaged or lost cells in various retinal diseases such as glaucoma, macular degeneration or retinitis pigmentosa. For such approaches to be effective, however, it is crucial that stem cells generate only the appropriate cell type for a particular condition. This study suggests that it may be possible to manipulate the competence of retinal stem cells so that they only generate retinal cells associated to a particular temporal stage. "For example”, added Dr. Cayouette, “inactivating Ikaros could favour the production of later-born neurons such as photoreceptors, which are lost progressively in retinal degenerative diseases." Future studies will be required to assess the usefulness of this approach for potential cell replacement therapies. Reference: Jimmy Elliott, Christine Jolicoeur, Vasanth Ramamurthy, and Michel Cayouette. (2008) Ikaros Confers Early Temporal Competence to Mouse Retinal Progenitor Cells. Neuron Volume 60 October 9, 2008, 26-39. End of article Beginning of article Gene Therapy Restores Vision To Mice With Retinal Degeneration Massachusetts General Hospital (MGH) researchers have used gene therapy to restore useful vision to mice with degeneration of the light-sensing retinal rods and cones, a common cause of human blindness. Their report, appearing in the Oct. 14 Proceedings of the National Academy of Sciences, describes the effects of broadly expressing a light-sensitive protein in other neuronal cells found throughout the retina. "This is a proof of principle that someday we may be able to repair blindness in people with conditions like retinitis pigmentosa and macular degeneration," says Richard Masland, PhD, director of the Cellular Neurobiology Laboratory in the MGH Department of Neurosurgery. "There are several limitations we need to overcome before we can begin clinical trials, but I'm optimistic that this work may someday make a big difference for people who otherwise would have no vision at all." The study was designed to investigate the effect of expressing the light-sensitive protein melanopsin in retinal ganglion cells. These specialized neurons receive light signals from the rods and cones and carry those signals into the brain via the optic nerve, which is formed from the cells' axons. Melanopsin is usually produced in a subset of cells that are involved with establishing circadian rhythms but not with vision. The MGH team used the standard viral vector adeno-associated virus to deliver the gene encoding melanopsin throughout the retinas of mice whose rod and cone photoreceptors had degenerated from lack of a crucial protein. Four weeks after delivery of the gene, melanopsin - normally produced in 1 percent of retinal ganglion cells - was found in about 10 percent of ganglion cells in the treated eyes but not in eyes that received a sham injection. Many of the melanopsin-expressing cells were structurally different from those that typically produce the protein, implying that it was being expressed in a broader range of retinal ganglion cells. Electrophysiological examination of the melanopsin-expressing cells revealed that all responded to light, although the neuronal signal was delayed and persisted after the light signal had stopped, which is typical for a melanopsin-mediated signal. Two behavioural tests verified that the treated mice - which otherwise would have been essentially blind - had enough vision to find a darkened refuge in an otherwise brightly-lit area and to successfully learn that a light indicated a safe platform to which they could swim. “The same level of melanopsin expression in a human retina might allow someone who otherwise would be totally blind to read newspaper headlines, but the slowness of the response would be a problem," Masland says. He notes that another group's gene therapy experiments published earlier this year were similar but used a protein that requires a level of light comparable to looking directly into a bright sky for a whole day, which would eventually damage the retina. "Before planning clinical trials, we need to develop a more sensitive version of the other protein, channelrhodopsin-2, or a faster-responding melanopsin, which we are working on." Masland is the Charles A. Pappas Professor of Neuroscience at Harvard Medical School. He and the MGH have applied for a patent related to the work of this study, which was supported by grants from the National Institutes of Health and Research to Prevent Blindness. The lead author of the paper is Bin Lin, PhD, MGH Cellular Neurobiology Laboratory. Additional co-authors are Amane Koizumi, MD, formerly of MGH and now at the National Institute for Physiological Science in Japan; and Nobushige Tanaka, MD, and Satchidananda Panda, PhD, of the Salk Institute for Biological Studies. Adapted from materials provided by Massachusetts General Hospital, via EurekAlert! Science Daily, 16 October 2008, USA. End of article Beginning of article Retina International Conference July 2008: Helsinki, Finland In the last edition of The Achiever we included a Summary Report on the Retina International Conference in Helsinki, prepared by Graeme Banks, President of Retina Australia. In this edition, a more detailed report is provided, compliments of Fraser Alexander as published in the Retina New Zealand newsletter. Professor Ali’s presentation on the replacement of the defective RPE65 gene that causes Lebers Congenital Amaurosis was the highlight of a great conference-a conference remarkable in being the first congress dominated by human clinical trials as opposed to previous conferences dominated by basic science and animal studies. Professor Ali demonstrated with an exciting video the remarkable improvement in night vision achieved by a patient within six months of receiving the gene therapy. This success was the result of 15 years of research. Proof of principle that the replacement therapy worked in animal models was already established in 1999. The planning of the trials started in 2004 and involved a significant group of researchers from across many clinical fields. The focus thus far has been to determine safety factors and further trials will involve higher doses and younger patients in the hope the therapeutic effect will be greater. The findings of this trial will fast-track other gene replacement trials. Professor Ali said that the trial had demonstrated that we can deliver genes safely to the retina but significant levels of investment are still needed to move the research forward. Professor Jerry Chader stressed the estimation that only half of the genes for RP have been identified and probably most of the genes for AMD. There were five important areas of research where clinical trials are in progress or are being planned: 1. Gene Therapy-3 clinical trials for RPE65 in LCA by Ali, Bennet and Jacobson were underway and reports by Ali and Bennet showed great early results. 2. Gene therapy trials to deliver growth factors for wet AMD were also underway. Gene therapy trials for Stargardts and Ushers Syndrome are in the planning stage. 3. Pharmaceutical intervention – encapsulated cell technology: to deliver growth factors for dry AMD and RP were in clinical trials. 4. Nutritional Studies-the AREDS study had shown the importance of anti-oxidants in AMD and the AREDS2 trial is testing the effectiveness of Lutein and Zeaxanthin in AMD. The patient trial to test anti-oxidants in RP was underway. 5. Artificial Retina-many different centres were investigating this and results of 2 trials were both showing great promise. Photoreceptor cell transplantation trials have not been that successful. Stem cell research offers a great hope for the future but some challenges remain. Both of these areas and the artificial retina would hopefully one day replace dead or non-functioning photoreceptor cells. Dr Weng Tao presented the results of the Phase 2 and 3 studies of neurotrophic growth factors (RP and dry AMD). Therapy is not gene dependant and some patients had experienced a significant improvement in visual acuity level. Dr John Flannery presented a ground breaking technique for possibly restoring vision in advanced retinal degenerations. His approach involves biochemical manipulation of retinal ganglion cells to restore light sensitivity. The identical cells are the ones being used in the prosthetic retinal implant research projects. Dr Flannery’s research is a very promising avenue of treatment in the advanced stages of retinal degeneration. Two different projects to develop an artificial retinal implant were updated at Helsinki. Professor Eberhart Zrenner from the world famous team in Tubingen, Germany, presented results of his sub-retinal chip. The chip is stimulated in various patterns and patients could distinguish horizontal lines from vertical lines and their positions. They could also detect dot alignment and direction of movement. With the correct stimulation patients could also find a white plate on a black background. Professor Mark Humayun explained the epi-retinal prosthesis. The project is called Second Sight and the implants were tested on 4 patients blind from end stage retinal degeneration. They were assessed in 4 different tasks and scored significantly better than chance in 83% of the tests. They had to locate and count objects, differentiate between 3 objects, determine the orientation of the capital L, and judge the direction of a moving object. His conclusion was that using the device blind subjects can differentiate and localize objects in their environment. Professor Theo Van Veen gave a summation to date on the effect of anti-oxidants. Studies in 9 different mouse models of retinal degeneration have shown oxidative damage in the photoreceptors that is probably due to the hyper-oxic environment created by the progression of the disease. The two studies in animal models showed that the use of a combination of high levels of anti-oxidants delayed photoreceptor cell death. Ophthalmologists have generally been reluctant to advise RD patients to use these anti-oxidants due to the lack of a patient trial. The results of a patient trial in Spain into the effect of these anti-oxidants are expected by the end of 2008. The Retina International Scientific and Medical Advisory Board issued the following statement on the use of anti-oxidants for RP: “independent evidence from well respected laboratories agrees that combinations of antioxidant supplements are successful in slowing retinal degeneration in RD animal models. Positive effects in all these animal models may indicate that such treatment could be effective in most or all forms of RP and allied diseases irrespective of molecular diagnosis.” Safety seems assured from the animal testing done to date and from the fact that the supplements used are known to be well tolerated in humans and are not controlled substances. The control of risk factors for AMD such as blood pressure, obesity, smoking, exposure to sunlight and nutrition were also highlighted. Genetic counselling and the importance of patient registries were the focus of numerous papers. Professor Joe Hollyfield’s success in the development of a mouse model for MD was a most valuable new development reported in Finland. Abstracts of Papers Presented: Clinical Diagnosis of Retinal Dystrophies and its Value for the Swedish RP Registry: Professor Sten Andreasson The Swedish RP registry is linked to the Department of Ophthalmology at the University of Lund. It comprises over 2700 patients including pedigrees from patients examined at the unit in Lund with electrophysiology and a thorough ophthalmological investigation. As the Committee of Ethics also has approved obtaining DNA samples in a BioBank numerous molecular studies have been completed and the gene defects in more than 250 families with different mutations in 30 genes have been identified. Full field electroretinography is the method of choice for objective evaluation of the total retinal function, and has been used widely in experimental and clinical research for characterization of retinal degenerations. During recent years new electrophysiological techniques have enhanced our possibilities to better investigate and understand the function in separate areas of the retina and the visual pathway. The Department of Ophthalmology in Lund was the first clinical unit in Scandinavia to use multifocal ERG for further studies of localized dysfunction in the retina. A further development of multifocal ERG is multifocal VEP which reflects the cortical response to a localized stimulation of the eye. Multifocal VEP continuously improves and seems to be of most value for an objective way to further investigate the visual pathway. Recent development of clinical electrophysiology and molecular genetics has led to a radical improvement in understanding etiology and pathophysiology of hereditary retinal disorders. Is It Possible To Avoid Age-Related Macular Degeneration? Professor Lotta Salminen, University of Tampere, Finland Over the past 40 years epidemiological studies have illuminated the incidence, prevalence and exposure of AMD within various populations and confirmed hypothesis on etiology. All studies show the increased risk of the disease with increasing age. People aged 90 years and above have an 8 to 10 fold increased risk of developing AMD compared to people aged 50 years. In addition to the age risk of developing AMD ‘inborn’ risks are a family history of AMD, light skin, and female gender. However, studies on the distribution of AMD within the population have shown that there are several external and behavioural risk factors of AMD. Social class is reported to have an inverse risk of AMD. Cardiovascular disease, hypertension, carotid atherosclerosis, high intake of saturated fat and cholesterol, smoking and excessive alcohol consumption have all been shown to be associated with increased risk of AMD. There are several studies reporting of lifetime light exposure as a risk factor of AMD. The oxidative stress throughout life due to combined exposures to light and oxygen of photoreceptors in the retina and the generation of free radicals may be an essential mechanism for AMD. It is thought that AMD might occur in individuals that have received excess light stimulation, particularly at vulnerable times, or who do not have enough protective antioxidant micronutrients in the serum or retina. Biomarkers of oxidative damage have been demonstrated in post-mortem eyes from patients with AMD. Consequently, the control and treatment of the external and behavioural risk factors of AMD like high blood pressure, excessive weight and obesity, smoking, excessive sunlight exposure may proactively reduce the risk of AMD. The impact of nutrition on manifestation and progression of AMD has become an important controversial topic within recent years. The results of the only prospective, controlled clinical trial providing proven benefit of antioxidant supplementation for AMD (AREDS) and the role of lutein and zeaxanthin and various fatty acids were discussed during the presentation. To avoid AMD further research on the interactions between genes and environment is likely to be the most productive way together with a balanced, low-fat diet with vitamin supplementation and cessation of smoking. End of article Beginning of article Stem Cells: Renewed Vision by Maria-Thereza Perez, Associate Professor, Lund University, University of Copenhagen Stem cells and progenitor cells can be programmed to generate multiple cell types. Several reports suggest also that cells with regenerative potential may be isolated not only from the inner cell mass of blastocyts (embryonic stem cells), but also from adult tissues (adult or somatic stem cells). Successful approaches based on the use of such cells would thus offer enormous possibilities to treat a vast range of diseases. In the area of retinal degenerations however, the work is not quite ready to be tested on human patients. Experimental studies have shown that stem cells and some ocular progenitor cells are capable of differentiating into specific retinal cell types both in vitro and following transplantation. However, a number of technical obstacles need still to be resolved before stem cells can be safely used for therapeutic purposes. In vitro manipulations are necessary in order to derive and maintain stem cells and involve at present the use of protocols that limit the clinical use of these cells (e.g. contamination with animal pathogens). The potential uncontrolled growth of cells after transplantation needs also to be carefully assessed. Another approach involves promoting an in situ expansion of the small existing pool of endogenous retinal stem or progenitor cells. It would not only eliminate the need to harvest and transplant the cells, but also circumvent the immunological challenges associated with transplantation. This approach requires a better understanding of the mechanisms controlling normal cell development and thereby of exogenous factors that can be used to boost neurogenesis, since the existing pools appear unable to contribute spontaneously to any degree of repair. Whether or not application of exogenous factors will also be able to drive the migration of these cells to affected areas and to promote their functional integration with the rest of the tissue also remains unknown. Nevertheless, despite practical and ethical issues and the fact that many optimistic reports have been refuted, the stem cell field is evolving rapidly, engaging social and technical interests. It has certainly challenged the old dogmas stating that regeneration and repair of the human CNS are not viable. Efforts need to be intensified in order to improve the prospects of developing effective therapies based on the use of stem and progenitor cells, but avoiding at the same time uncritical enthusiasm and views which will ultimately delay the advancement of this promising research area. People with Recessive Stargardt Disease or Cone-Rod Dystrophy Should Not Exceed the Recommended Daily Allowance for Vitamin A After extensive deliberation and discussion of existing and recent new data, members of the Foundation Fighting Blindness's Scientific Advisory Board and outside experts recommend that people with recessive Stargardt disease or cone-rod dystrophy, most of which are caused by mutations in the ABCA4 gene, should avoid intake of vitamin A beyond the recommended daily allowance (RDA). The recommendation comes as a result of research indicating that excess consumption of vitamin A can potentially accelerate vision loss and retinal degeneration in people with recessive Stargardt disease, cone-rod dystrophy, and other retinal conditions caused by variations in the ABCA4 gene. As you will read in the official position paper if you do not know the identity of the gene causing your Stargardt disease or cone-rod dystrophy, please consult with your ophthalmologist and/or genetic counselor about obtaining genetic testing. Recommendations: The Foundation Fighting Blindness recommends that: Based primarily upon a recent animal study, individuals of any age with autosomal recessive Stargardt disease or cone-rod dystrophy caused by ABCA4 genemutations should be aware of the possible potential risk for further damaging their vision by taking vitamin A supplements (for example, Vitamin A palmitate or other dietary supplements that contain vitamin A) beyond the daily recommended dietary allowance of approximately 3,000 I.U./day for men and 2,333 I.U./day for women, as developed by the Food and Nutrition Board under the aegis of the Institute of Medicine. While there are not definitive data from humans, based on animal studies, individuals with the ABCA4 genetic subtypes of autosomal recessive Stargardt disease or cone-rod dystrophy caused by a mutation in the ABCA4 gene should also consider avoiding excessive sunlight exposure. Individuals who have Stargardt disease or cone-rod dystrophy, but do not know their gene mutation, should consider genetic testing to determine whether they have a mutation in the ABCA4 gene. Information is available from Foundation Fighting Blindness website on how to obtain genetic testing. Before making any changes to diet or lifestyle, individuals with autosomal recessive Stargardt disease or cone rod dystrophy caused by a mutation in the ABCA4 gene, or those individuals who do not know the genetic cause of their retinal degeneration should consult with their personal physician and ophthalmologist regarding these recommendations and possible genetic testing. Background: Our understanding of inherited retinal degenerative diseases has dramatically increased with the identification of genes involved in these diseases and with the production of relevant animal models to understand disease progression. The autosomal recessively transmitted form of Stargardt disease, an early-onset form of macular degeneration, results from mutations in a gene called ABCA4. In individuals with autosomal recessive or isolated forms of Stargardt disease due to mutations in ABCA4, the retinal rod and cone photoreceptor cells of affected individuals cannot efficiently perform their role in a process called the visual cycle. Specifically, the mutant ABCA4 gene does not function in the part of the visual cycle where vitamin A is shuttled back and forth between the photoreceptor cells and a neighboring cell layer called the retinal pigment epithelium (RPE). Consequently, within the RPE, there is the buildup of a toxic vitamin A derivative, called A2E, which collects as yellow-white deposits called lipofuscin. Some individuals affected by cone-rod dystrophy can also have mutations in the ABCA4 gene and can also exhibit abnormally high lipofuscin accumulation in the RPE. While direct clinical studies on the use of Vitamin A in individuals with Stargardt disease or cone-rod dystrophy due to mutations in ABCA4 are not available, information from animal studies strongly suggests that taking excessive amounts of vitamin A could promote the additional accumulation of lipofuscin within the RPE cells. Since lipofuscin contains a toxin (A2E), this could lead to a loss of photoreceptor cells and accelerated visual loss. It is currently not entirely certain if this additional accumulation of lipofuscin would lead to a more rapid rate of retinal degeneration in patients with ABCA4 mutations. However, based on the best information that is currently available, we recommend avoiding excess vitamin A intake for those persons. Refraining from excessive use beyond a daily-recommended allowance would be prudent. Again, consult you personal physician before making any changes to your lifestyle or diet. Based again on animal studies, it is also advisable for patients with ABCA4 gene mutations to consider avoiding excess sunlight exposure to the retina (for example, being outside on a very sunny day without sunglasses), which could potentially accelerate the loss of both RPE and photoreceptor cells. This situation could be helped by using a hat with a large brim and appropriate sunglasses that filter out blue and ultraviolet light, which are potentially the most harmful to the retina. To determine if this recommendation applies to you, individuals who have Stargardt disease or cone-rod dystrophy who do not already know the genetic reason for their retinal degeneration may want to consider being genetically tested to determine whether they have a mutation in the ABCA4 gene. There are currently CLIA-approved (federally regulated) laboratories that offer a test for ABCA4 mutations in Stargardt disease and cone-rod dystrophy and other laboratories will soon be offering a test for ABCA4 as well. Source: Foundation Fighting Blindness Position Paper, October 29,2008 End of article Beginning of article Question Time with Frank Bartoli In this edition, member Frank Bartoli has kindly agreed to volunteer for Question Time. Please contact Rick through the office to volunteer your answers for future editions. 1. What’s your earliest memory? When I was a child back in Malta. I loved to ring the bells of the church. Being on the boat trip to Australia. 2. What’s your idea of a good time? Going out and being with my family and friends. 3. What’s your ideal holiday destination? France – Paris, French Riviera. 4. Who inspires you? My wife, Maree. 5. What makes you angry? When I can’t do things for myself. 6. What’s the hardest thing you’ve ever done? Giving up my driving licence. Learning to adjust to life without sight. 7. What’s the best thing you’ve ever done? Having a family – being a husband and a father to my girls. 8. What do you like about Retina Australia (Vic)? The support and raising of funds for research. Being able to obtain information for people with eye problems. 9. If you could change one thing about the world, what would it be? Peace – harmony for us all to live in this beautiful world together. 10. What’s the most important thing you’ve learnt about life? Live every day like it’s your last. Make the most of your opportunities and take the good with the bad. End of article Beginning of article Snowy Owl Every $2 from the sale of these owls supports thousands of Australians who lose a little more sight each day but who hope for a treatment soon. Please contact Mary in the office if you would like to purchase a Snowy Owl. Mary can also send you out a suitably sized pack of Owls, if you are interested in selling to family and friends. Every $2 helps our fundraising for Research. We also have little display boxes for shop counters etc if you are interested. Do not hesitate to phone 9650 5088. Mary will only be too happy to help. Christmas Cards There are still some packs of Christmas Cards in the office for sale. If you are interested in purchasing any of the following packs of cards, please phone the office (03 9650 5088) on either Tuesday or Thursday between the hours of 9am and 3.30pm. Gold Card with Green Christmas Tree - $3.00 per pack of ten cards Assorted Pack of ten Cards - $3.00 per pack 16 Christmas Gift Cards - $1.00 per sheet of 16 cards (7cm x 7cm) Practice easing your way along. Don’t get het up or in a dither. Do your best; take it as it comes. You can handle anything if you think you can. Just keep your cool and your sense of humour. SMILEY BLANTON, M.D. (1882-1966) End of article Beginning of article CHANGE OF ADDRESS OR OTHER DETAILS To advise change of address or name, please enter your new particulars below. Then mail the whole of this page, which includes your existing particulars, to: Retina Australia (Vic) Inc., 247–251 Flinders Lane, MELBOURNE VIC 3000, Fax to 03 9639 0979 or email to  HYPERLINK "mailto:support@retinavic.org.au" support@retinavic.org.au NAME: ……………………………………………………… NEW POSTAL ADDRESS: ……………………………………… ………….. POSTCODE: …………….. TELEPHONE/S: …………………………………………………………… NEW EMAIL: ……………………………………………………………….