Report of the Retina Australia National Congress –19,20,21 October 2012

The theme of the Congress was “Hope in Sight”.

The Hon. Barry Jones AO officially opened the conference. He spoke about his work with Vision 2020 and about eyecare in general. The message of Vision 2020 international is that early detection is imperative and so people should not put off going to their eye health professional. Barry mentioned that World Retina Day recognises the 20million people worldwide who are believed to have an hereditary retinal disease. He also said that he had fond memories of opening the Retina International Congress in Melbourne in 1988 when he was the Federal Minister for Science, Technology and Small Business, and what an important event that was. Barry concluded his speech by talking about the great work of Retina Australia and in particular their support of Australian research.

The Congress was very well organised and comprised presentations pertaining to different aspects of research into inherited retinal diseases, including potential treatments, as well as a variety of workshops and opportunities for participants to ask questions of the research scientists in attendance.

Professor Robin Ali, who is the Professor of Human Molecular Genetics at UCL Institute of Ophthalmology, London, where he is also Head of the Department of Genetics, was the keynote speaker and participated at various times throughout the Congress within workshops and leading the scientific panel at questiontimes. Robin also holds faculty positions at UCL Institute of Child Health and the Biomedical Research Centre for Ophthalmology at the Moorfields Eye Hospital, London. The main focus of his research is the development of gene and cell therapy for the treatment of retinal disorders. Robin and members of his team have received numerous prizes and awards for their work on developing new treatments for retinal degeneration. In 2007 he was elected to the UK Academy of Medical Sciences and in 2009 appointed Senior Investigator of the UK National Institute of Health Research. He serves on the advisory boards of a number of funding bodies and is the Associate Director of Research at Fighting Blindness, Ireland.

Other presentations were made by:

  • Dr De Roach who is the Principal Medical Physicist, Department of Medical Technology and Physics at the Sir Charles Gairdner Hospital, Perth WA and also the Director of the Australian Inherited Retinal Disease Register (IRDR) and DNA Bank.
  • Ms Tina Lamey who is the Senior Research Officer at Sir Charles Gairdner Hospital and has responsibility for the day to day operations of the IRDRDNA Bank. Tina has been actively involved with this program since 2001 and is responsible for coordinating genetic analyses on DNA collected from participants, interpretation of results of analyses and, the clinical reporting of results where appropriate.
  • Dr Lauren Ayton who is a clinician at the Centre for Eye Research Australia with a specific interest in low vision and ocular disease. As part of the Bionic Vision Australia consortium, she is the Clinical Research Co-ordinator for the bionic eye project. She is a qualified optometrist who has also worked in the areas of traumatic brain injury and eye movements.
  • Associate Professor Erica Fletcher heads the Visual Neuroscience Laboratory at the Dept of Anatomy and Cell Biology at the University of Melbourne. She has a strong interest in the mechanisms of photoreceptor degeneration. She is a recipient of Retina Australia research funding. In 1996, Erica was awarded the CJ Martin Award from the NH&MRC to study with Professor Dr Heinz Wassle in Frankfurt and in 2006 was awarded the Irvin M and Beatrice Borish Award from the American Academy of Optometry for her contribution to vision research.
  • Dr Una Greferath works within the Dept of Anatomy and Cell Biology, University of Melbourne where much of her research involves aspects of the development of the retina. She is recipient of Retina Australia research funding.
  • Professor Robyn Guymer is Head of Macular Research Unit, Centre for Eye Research Australia, University of Melbourne where her research is mainly in the area of macular degeneration. Professor Guymer has received Retina Australia research funding. Robyn is also part of the Bionic Vision Australia team.
  • Associate Professor Robyn Jamieson is involved with the disciplines of Paediatrics, Genetic Medicine & Ophthalmology at the Sydney Medical School, University of Sydney, and is Head of Developmental Genetics Research at the Children’s Hospital Westmead NSW. Professor Jamieson is also a recipient of Retina Australia research funding.
  • Professor David Hunt is Winthrop Professor at the School of Animal Biology, University of Western Australia. A considerable amount of his time is involved with research into dominant macular dystrophies. Professor Hunt is a recipient of Retina Australia funding.
  • Mr Michael Simpson who has worked in the blindness sector for over 35 years, serving as national President of Blind Citizens Australia for 7 years. He has held senior positions with Vision Australia since 1975 and is currently the General Manager Accessible Information Systems. Michael has played an integral role in the development and promotion of public policy regarding blindness and low vision matters, access to information, and systemic and individual advice and support to break down barriers.

The workshops ran concurrently in three groups and paticipants chose to attend workshops which were of interest to them. The topics were varied with many of them led by people employed by NSW blindness and/or low vision agencies.

Group 1 Workshops:

  • What is it like to be blind? – led by Regina Renfree Guide Dogs NSW
  • Retina Youth: “Me Too” – led by Liz Wheeler RANSW
  • Vision Impaired people and the kitchen – led by Louisa Coates & RacquelAban from Vision Australia

Group 2 Workshops:

  • Sighted Guide Skills - led by Regina Renfree Guide Dogs NSW
  • Ophthalmic issues and gene therapy – led by Professor Robin Ali
  • Youth Issues (Genetic, financial advice) - led by Liz Wheeler RANSW & Tina Lamey IRDRDNA Bank

Group 3 Workshops:

  • The impact of vision impairment on the family – led by a professional counsellor from Vision Australia
  • Ophthalmic issues, stem cell therapy – led by Professor Robin Ali
  • Latest technology for vision impaired people – led by representatives from Vision Australia and Guide Dogs NSW

The venue for the Congress was the Novotel (formerly the Sebel) Hotel in Church Street Parramatta. There were many opportunities for the participants to mix and mingle over lunch and coffee breaks as well as at the Welcome Drinks function which was held on Friday evening prior to the Congress, and at the Congress Dinner which was held on the Saturday evening. Overall there were in excess of 130 people who attended the Congress, with most of these present on both Saturday and Sunday. The majority of the participants were people directly affected by inherited retinal diseases, however there were a number of health professionals including ophthalmologists and optometrists who were also in attendance.

A summary of the presentations follows:

(i)Professor Robin Ali – “Gene therapy Pipeline”

Professor Robin Ali commenced his keynote address by giving an explanation of gene transfer in humans for therapeutic benefit. He spoke about the length of time it takes to get from the initial studies to clinical trials. More specifically, Robin and his research team have been working in this area for fifteen years and have only recently commenced clinical trials. He did indicate that the work is getting faster with experience but the processes do require a significant amount of “red tape” which must be strictly adhered to prior to the clinical trials with human subjects commencing.

Professor Ali’s laboratory focuses on gene therapy for inherited retinal disease. His work commenced with mouse models and he found some types of disease more difficult to treat, particularly those with rapid degeneration of sight. Defects they thought would be impossible to treat can now be treated in mice and the team were able to deliver genes to the retina efficiently, achieving long term cell-specific gene expression. They were the first laboratory to satisfactorily transfer cells into the photoreceptor cells.

The clinical work commenced with gene therapy for Lebers Congenital Amaurosis (LCA)patients by improving rod sensitivity. Robin announced that the second trials have just been completed but not published yet. His patients report that they are happy with their improved night vision in particular. His next steps will be to improve rod sensitivity and then move towards developing licensed treatments – that is,those available to the public. He believes that it is too early for such treatments to become routine but at least they will be useful provided that in the meantime comprehensive gene testing has occurred to ensure that people seeking such treatment do in fact have LCA.

In summary, the Ali team have established a therapeutic pipeline for at least 11 forms of early onset severe retinal diseases. Currently the strategic focus is on cones. The first study was with mouse models with CNGB3 or Achromatopsia genes, and the second with a missing gene of Gucy2e. Gene therapy has improved the vision of the mice and after 6 months there has been very slight further deterioration. They are now at the point that they can slow degeneration. Professor Ali played a video which showed both treated and untreated mice swimming in a tank, indicating that the treated mice could swim directly to a platform and get out of the water, whilst those not treated swam round in circles.

Another direction of investigation has been Professor Ali’s workon X-Linked RP which he commenced in 2003 with particular consideration of the RPGR defective gene. He reported that some progress has been made but the work is quite difficult because of the “bottleneck” of genes in the photoreceptor. He believes this is a very complicated disorder but hasrecently found a therapeutic “vector” that has slowed the deterioration in mouse models over two years. Professor Ali is also undertaking research with a focus on the CNGB3 and RDH12 genes.

Professor Ali concluded his talk by explaining in detail why clinical trials take a long time.

  • firstly the organisation of such trials is complex and involves many issues and people
  • different types of clinical grade gene therapy vectors need to be produced in a specialised laboratory
  • specialised testing proceduresneed to be developed and proven to be safe
  • specific trials for young children need to be investigated because the hope is to be able to treat infants before their eyesight deteriorates at all

Finally Professor Ali stated that governments need to inject more funds into research, specifically those clearly working towards clinical trials with humans. He said that if patient groups like RP Fighting Blindness in England and Retina Australia support the research then this sends a clear message to government that they need to be supportive also.

In response to some questions from the delegates, Professor Ali stated that:

  • there will be a search for some patients worldwide to participate in the clinical trials because of the rareness of some diseases and this clearly indicates the need for data banks like the IRDR & DNA Bank in Perth.
  • his aim is to treat patients early after diagnosis of their disease, slow down the rate of loss of vision, and provide potential lifelong benefits, however the clinical trials to date have indicated that patients have an improvement in their vision for a number of years but then this declines over time back to the amount of loss already present at the time of the treatment. Consequently much more work needs to be done before the treatments can we used more widely than a clinical trial.
  • Information is shared throughout the world by researchers to improve research and this is conducted through publications, presentations and scientists simply talking to each other about their work.

(ii)Dr John De Roach & Ms Tina Lamey – “Australian Inherited Retinal Disease Register and DNA Bank progress”

John gave an historical account of the IRDR & DNA Bank. He also spoke about the limits of the work and the goals for next year which areto collect 370 DNA samples with associated information. To date the group has analysed DNA from 274 affected families as well as to collect additional 40 samples from South Australia/Northern Territory.

He reported that overall the IRDR & DNA bank has 5000 participants because Professor David Mackey has recently passed over all of his DNA samples. Records indicate that prior to 2008, the Bank only had DNA from Western Australian patients but since then samples have come from across Australia with some overseas DNA being contributed because of the particular patient’s close Australian connections.

John then went on to explain that a clinical reporting service, tacked onto the back of the research, is beginning to emerge and he is trying to get government funding for this. He believes this is an unmet need and an important development for the future.

For people interested in looking at the data collected to date, or to find out more about the work of the team, information about two websites was given. They are:

Tina then spoke about the genetic analysis component of the work. She explained why it was important and this can be summarised as follows:

  • Understand clinical manifestation of disease and enables us to see what may happen in specific cases
  • Develop a genetic picture of IRD in Australia to determine whether there is any similarities or differences between Australian families compared to other populations throughout the world.
  • Genetic counselling
  • Confirm clinical diagnosis
  • Important step for development and application of gene-based, personalised treatments

Tina also spoke about some of the results their team had produced and in particular those for which clinical trials are underway, or in the pipeline. She said that the emergence of new technology will assist with future work. An example of this is that currently a trial with a “whole exome array” analysisis being undertaken in conjunction with another WA study where the retinal disease inheritance pattern is unknown and results from this will guide the work of the IRDR & DNA Bank. She also said that further financial support for this initiative is currently being sought.

(iii)Mr Michael Simpson – “Entitlements of a Vision Impaired Person”

Michael began his talk by giving the definition of legal blindness which is used to determine a person’s “Entitlement”. He then went on to explain the similarities and differences between Australian government pensions with specific reference to DSP(Blind) & Aged Pension Blind.

A summary of the entitlements spoken about follows:

  • Carer payment or allowance – income and assets tested (need to prove that you cannot work because of the nature of caring)
  • Carer allowance $140 per fortnight which does not preclude work
  • Mobility Allowance – volunteering or full time allowance have different amounts
  • Taxi transport subsidy varies per state
  • VIP travel pass – free on all government services and some interstate and country, now Australia wide use and some states allow carer to travel free
  • Great Southern railway – Overlander, Ghan, Indian Pacific have generous concessions
  • Qantas carer concession card - different concessions between economy & business
  • Disability parking concessions – varies from state to state
  • Registration fee concession for cars also varies across Australia
  • Community transport through local councils is available for some to achieve activities not readily accessible by transport
  • Rent assistance – available through state housing schemes
  • Utility concessions – telephone subsidy, water & energy concessions (eligibility determined by federal government pension)
  • Council rate concessions set by local council area and vary considerably
  • Free assistance for smoke alarm and battery replacement – item provided by householder
  • Home Assistance – through local councils (Home & Community Care)
  • Work place modifications scheme
  • Most states have some schemes for home use equipment
  • Rest & recreation – Companion Card enables free entrance for companion
  • Taxation rebates and Medicarelevy are available depending on individual circumstances

(iv)Dr Lauren Ayton – “Bionic eye project“

Dr Lauren Ayton commenced her presentation by stating that Bionic Vision Australia now has 160 staff. It is a very multidisciplinary team, from a number of renowned institutions, all working together with a goal of getting the bionic eye to work.

Lauren explained that the Bionic Eye project was currently working towards giving some level of sight back to people who have no vision or only light perception. In time work may include people with very low vision. She spoke about the different types of prosthetic devices currently available throughout the world and explained that most groups are working with patients with RP and hope to follow up with AMD patients in the longer term. Lauren explained that the company “Second Sight” have approval to market their device , the ArgusIIin USA and also Europe and reports are quite variable about how successful it is in restoring vision, but overall recipients have shown improved mobility. The TuebingenUniversity study has announced some very good results where some recipients of their device are reading large letters and have good navigational skills.