EYE-Q NEWS Retina Australia (Qld) Inc Quarterly Newsletter - Issue 93 Autumn Edition 2011 CONTENTS PRESIDENT’S LETTER 2 ORPHAN DRUG DESIGNATION 3 PHONE FOR VISUALLY IMPAIRED 5 ID MATE 6 STEM CELL TOURISM 6 CHRISTMAS LUNCH REPORT 7 PARENTS’ DILEMMA 8 X LINK FACTOR 13 OMEGA-3 AND RECIPE 15 AZABATS 16 RECENT DEVELOPMENTS 17 JUST FOR FUN 18 FIND-A-WORD 19 MEMBERSHIP 20 DIARY DATES COFFEE MORNINGS Brisbane City Library - 9:30 – 11:00am THURSDAY 10TH MARCH THURSDAY 14TH APRIL THURSDAY 12TH MAY THURSDAY 9TH JUNE GENERAL MEETING SATURDAY 12TH MARCH RAQ office, 46 George Street, Brisbane Meeting will commence at 11am (See accompanying agenda) BUS TRIP TO CABOOLTURE SATURDAY, 2ND APRIL LOW VISION PRODUCTS ASSESSMENT DAY FRIDAY & SATURDAY, 4TH & 5TH MARCH RAQ office, 46 George Street, Brisbane (See Page 16) Office Address: Level 1, 46 George Street BRISBANE QLD Postal Address: PO Box 16295 CITY EAST QLD 4002 Telephone/Fax 07 300 300 65 - Regional Free Call (Outside Brisbane) 1800 000 999 Web Address: www.retinaqld.org.au - Email: admin@retinaqld.org.au Mission Statement: To provide information and the opportunity of support to people and families affected by inherited retinal dystrophies. With the support of the Australian community, to raise funds to finance scientific research into the causes, prevention and cure of retinitis pigmentosa and other retinal dystrophies. PRESIDENT’S LETTER FEBRUARY, 2011 - PRESIDENT’S LETTER Dear Members, Since our last Newsletter so much has happened within Queensland. Some of you have experienced floods as well as cyclones – the likes of which, in the past, have been rare. Christmas and New Year cheer has been subdued, to say the least while some of you struggled just to survive. We recently tried phoning western and northern members. On speaking with those able to answer, it was amazing just how resilient and positive you sounded. If Retina Queensland can help in any way please phone or email our office. We hope that by the time you receive this newsletter you will have full power and water supplies restored and a home to live in. Retina Qld, affiliated with Retina Australia, will fund ongoing (Inherited Retinal Disease Register & DNA Bank) and several new research projects working towards understanding retinal eye conditions and finding treatments to prevent and to reverse retinal blindness. Information about these projects will be provided in the next Newsletter. We remind members, at this point, to check payment of membership fees as a significant proportion of our members are not financial. Annual fees ($25.00 for families and $20.00 for individuals) are due in June. The cost of RAQ fees is comparatively cheap. Your membership fees help:- to represent you; to produce and send the Newsletters; to hold events; and most of all – to fund research projects that will help you and future generations. Thank you to all who bought or sold tickets in our Christmas Raffle. The “winners” are published in this Newsletter. Thanks again if you bought Christmas merchandise by ordering from the newsletter list. An extra thank you to our wonderful fund raisers who never give up selling badges, pens and fluffy owls. Thank you to the Beaudesert Group who presented RAQ with a hard earned donation. This will be my last President’s letter. For health reasons I need to step down from the president’s position. There have been some great times! Thank you to our wonderful committee (Anne Housego, Marg Veltheim, Wayne McDonald, Bob Logue, Gerard Mugavin and Jan MacLean). Best Wishes to you all, Rose Fraser President Order your new 2011/2012 Entertainment Book Retina Australia Qld Inc is raising funds by selling the 2011/2012 Entertainment Book. Selling for $65, a portion of the proceeds from the sale of the Entertainment Books will help raise valuable funds for Retina Australia Qld. Entertainment Books contain hundreds of 25-50% off and two-for-one offers from popular restaurants, cinemas, hotels, the arts, and sporting events. There truly is something for everyone with high value offers from Coles Supermarkets, Kmart, Warner Village Theme Parks, Restaurant II, Restaurant Manx, Three Bistro, Jo Jo’s, Mrs Fields Cookies, Restaurant Rapide, Zenbar, The Brisbane Lions, Mary Ryan’s, The Brisbane Bronco’s, The Caxton Hotel, Deery’s at the Story Bridge and many more.. To order your copy of the Entertainment Book, contact Retina Australia Qld Inc on 1800 000 999 or visit us at Harris Terrace, Level 1, 46 George Street, Brisbane PATIENT LED RESEARCH Orphan Drug Designation From RP Fighting Blindness (the British Retinitis Pigmentosa Society) 13 February 2011 Our sister charity in Dublin, Fighting Blindness Ireland, has reported success in securing Orphan Drug Designation for adeno-associated viral (AAV) based therapy containing DNA encoding an RNAi targeting rhodopsin and a replacement rhodopsin gene for the treatment of rhodopsin-linked Retinitis Pigmentosa, currently being developed by Genable Technologies. Genable Technologies Ltd. is a company formed by Fighting Blindness (Ireland) researchers at Trinity College Dublin (TCD) to progress the development of gene therapies for Retinitis Pigmentosa (RP) and other retinal diseases. Fighting Blindness Ireland was a founding investor in the company. Avril Daly, CEO at FB Ireland, said “This is a very important step towards a gene therapy product for RP which is a rare disease and it is believed to be the first time orphan drug designation has been granted for a gene therapy in Ireland.” At least 150 different alterations in rhodopsin-linked RP have been identified worldwide which makes developing a gene-based therapy very complex. Researchers at the Smurfit Institute of Genetics in TCD have been working for over 20 years to identify the genes and potential treatments for RP. This rare genetically inherited condition is caused by gene mutations which lead to the degeneration of photoreceptors at the back of the eye and eventual sight loss. This therapy switches off both copies of the gene, the normal and the altered copies. Simultaneously, a replacement rhodopsin gene is introduced which has been subtly altered so it cannot be suppressed. It encodes normal protein which allows the photoreceptors to work normally. Avril welcomed this development, saying ‘Research into a gene therapy for rhodopsin-linked RP was one of the first projects funded by Fighting Blindness Ireland in the mid 1980s. It is hugely exciting to learn that this project has led to a potential gene therapy that in turn has received an orphan drug designation; it is a great day for patient led research. The relationship between researchers and patients is vital, particularly in the area of rare diseases where some projects would not be funded without patient groups taking the initiative. Today we are witnessing the results of these relationships. We know this is only one step towards a therapy for a dominant form of RP, but it is a major step and gives real hope to those living with this degenerative disease not only in Ireland but internationally’. Rare diseases are often referred to as orphan diseases and in the EU these conditions must affect fewer than five in 10,000 (one in 2,000) to be classified as rare. To incentivise biotechnology companies to develop therapies for conditions that affect small numbers of patients The Orphan Drugs Regulation was introduced by the EU in 2000. There is still a journey ahead. This potential therapy must go through the human clinical trials process before it can be administered as a treatment. Professor Jane Farrar of Trinity College Dublin and Genable Technologies Limited commented "We are extremely pleased to receive orphan drug status in Europe. This decision by the EMA will help raise awareness of Retinitis Pigmentosa as a serious disease and ultimately help more patients receive therapy for their disease". Ms. Daly added “This development would not have been possible without the support and perseverance of the members and friends of Fighting Blindness and the determination and skill of the researchers at TCD over the past three decades. We will follow the progress of this therapy closely and look forward to bringing more good news to the patients affected by RP in the not too distant future”. Prof. Tony Moore of the RP Fighting Blindness Medical Advisory Board said "Rhodopsin mutations are a common cause of ADRP. However we should caution that this is but a first step and that there is still a lot of work to be done before clinical trials in man will start." Hearing and Visually Impaired Corded and Cordless Digital Phone Above is a photo of a telephone we have recently purchased.  You may or may not know how it works, but here goes: There is a corded base station and a cordless phone.  From the base station you enter details of names and phone numbers via the keypad.  When you want to retrieve the numbers you scroll down until you HEAR the name you want, you then lift the receiver and it automatically dials the number for you.  The synthesised voice takes a little getting used to, but if you enter a name phonetically it tends to come out better and it doesn't matter about the spelling really.  It will store 70 numbers. This is available from Telstra, Harvey Norman and Dick Smith and varies in price from $130-$150.  From Ron & Monica Doyle 18/9/2010 NOTE – The phone is a Uniden SS E27+1 and the corded base phone operates during power blackouts unlike some other models. This phone is also suitable for people with hearing loss or in noisy locations when you use the Extra Loud Audio Controls. Editor ID MATE SUMMIT Visual Independence is an Australian not for profit charity whose aim it is to: "bring happiness to the blind and low visioned Australians through the use of assistive / adaptive technology" In recent times, technology has developed to empower the blind and low visioned live a more independent life. The sad thing is that this technology costs and many potential beneficiaries are low income Australians managing on a blind pension who have no means of affording assistive technology. The founder of Visual Independence, living with a blind person, recognised the need for the establishment of an organisation to assist needy individuals obtain this technology. ID mate Summit is a portable “all-in-one” talking bar code scanner that aids visually or print impaired individuals with the identification of items via the product’s bar code. Using text-to-speech and digital voice recording technologies, it allows users to access an on-board database of product descriptions, along with a tailored set of recorded voice messages. With ID mate Summit, the user can quickly add additional voice recorded information to existing products or to items not found in the database. Additional bar code labels are available to label any product or item that does not already have a bar code. Adhesive, tag, and clothing labels can be placed on nearly anything. Simply scan the bar code and add a voice recording. To find out more, go to the website at www.visualindependence.org.au And if you would like to find out about financial assistance to purchase an ID mate, contact the RAQ office STEM CELL TOURISM International researchers have issued warnings against STEM CELL TOURISM.  The Foundation Fighting Blindness in the USA has strongly advised against patients undergoing unapproved stem cell treatment.  "If you are affected by a retinal disease, we at the Foundation strongly advise you not to seek these so called treatments, because they have not been rigorously studied".  Similarly an article published on Reuters on line quoted Dr Chris Mason of the University College of London's regenerative Medicine Department "The patient is in danger of losing their life and health, needlessly travelling long distances ... not having their condition improved, and potentially losing a large sum of money".  The article cited clinics in Germany and China but that there were up to 700 similar international businesses offering unproven stem cell therapies. Before undergoing ANY unproven treatment, request copies of peer reviewed results of trials that have been published in respected Medical and Scientific Journals GOOD TIMES TO END THE YEAR 2010 Volunteer’s Luncheon Each year we recognize the efforts of those who volunteer to help our Association. This is done through a luncheon. Last year it was held on Wednesday December 1st. There are scores of people who voluntarily assist RAQ, across the whole state, during the year. Volunteers assist with fundraising, office work, the production of our newsletter, donations, events, promoting awareness, caring for our members, and in countless other ways. We are aware that a luncheon, held in Brisbane, will only be accessible by a small proportion of our many volunteers. However we were able to host twenty-four special helpers, some of whom travelled to Brisbane for the event. Our luncheon was held in the City Council Library Meeting Room. We took advantage of the Farmer’s Market which takes place each Wednesday in Radcliffe Square, outside the Library. We purchased fresh bread, fruit, pasties, pastries, yoghurt, and smoked salmon on the morning of the luncheon and served it to our guests. The tables were decorated and each person also received a Christmas cracker, including the obligatory funny hat. It was a very enjoyable morning. Those who attended also recognized the large number of volunteers who could not be there that day. If you are one of our loyal and generous helpers, we hope that you will be able to join us in December this year. Christmas Party Our 2010 Christmas Party was held on Saturday December 11, at the New Farm Bowls Club. Despite the rainy weather, 34 people attended, and were treated to a great lunch and good company. During the lunch, which was catered by Bowls Club staff, President Rose, wearing a red Christmas cowboy hat complete with flashing lights and fur trim, presented an individual award to each person who was there, recognising their special qualities which had come to light during the year. We also presented several lucky door prizes, and drew a luncheon raffle. The Christmas lunch is also the occasion for the drawing of the RAQ state-wide raffle. This was done and one of the winners was in the room. Thanks to all those members across the state who sold and purchased raffle tickets. The winners are reported elsewhere in this newsletter. Our Christmas Party was very enjoyable, and we look forward to seeing as many members as possible when we join together again in 2011, to celebrate the Festive Season. Thanks to all those who helped organise this event. Report by: Grant Fraser PARENTS’ DILEMMA From RP Fighting Blindness (the British Retinitis Pigmentosa Society) Stephen and Lesley were not overly worried because Ben’s eyesight was not noticeably bad. He had had some problems reading the blackboard, and occasionally tripped over his toys, but his parents put that down to clumsiness. Otherwise Ben was a normal eight-year-old boy: he loved football, watching television and hanging out with his friends. The consultant examined Ben’s eyes, then delivered the news. He was consoling and deliberately used careful wording so as not to sensationalise the condition, but said that at some point in the future – maybe in two years or 20, it was impossible to predict exactly – Ben would start to lose his sight. Ben had retinitis pigmentosa, a group of inherited eye conditions that lead to incurable blindness. 'It was a severe shock because it came out of the blue,’ Stephen recalls. There was no history of blindness in their family. 'I remember the assistant saying, with luck his eyesight will remain good throughout his education. So, in one visit you’re going from thinking, oh, he may have to wear glasses to being told he’ll probably lose his sight.’ Now they faced the dilemma of what to tell Ben. Although he had been sitting across the table from the consultant during the diagnosis, what had been said barely registered with him. (Ben says now he has no memory of that day; he says he was probably thinking about football – he was devoted to Everton.) Should Stephen and Lesley tell their son what lay ahead and allow him to prepare for the future? Ben was obsessed with sport and his dream was to play competitive rugby or football. Or should they keep quiet about the timebomb in store? After all, how do you explain to a child that he has been sentenced to inevitable darkness? The issue of disclosure, of what to reveal to whom and when, is increasingly being discussed as advances in genetic testing mean that people can be forewarned of their future. The success of the Human Genome Project, which mapped man’s entire genetic code, has made it possible to detect hereditary diseases that develop later in life. Huntington’s disease, for example, which is non-treatable and fatal, and which does not typically develop until middle age, can now be picked up in the womb and, in the case of IVF, even before with 'pre-implantation genetic diagnosis’ – embryo screening; likewise, BRCA, the gene known to dramatically increase the risk of breast cancer. Dr Ruth Newbury-Ecob, a consultant in clinical genetics at University Hospitals Bristol, points out that the dilemma facing Ben’s family 'is where a child has a diagnosis and it’s a question of the age at which they’re made aware of that.’ What she sees in her clinic are parents with a strong family history of a genetic disease seeking a 'predictive’ test: has their child inherited the disease or not? The technicalities of a genetic test are fairly simple, but its human implications are painful and complex and often lead to heart-rending decisions. Individuals with a serious genetic disease in the family now have a choice. Do they live in hope? Or do they take the test, and then, if it is positive, spend the next 20 years knowing that death or incapacity approaches? How does knowing affect an individual’s decision about a job, a partner, having children? There is soul searching for the parents of children who test positive, without a doubt. But what of those who do the testing? 'It can be difficult to stand back and observe a parent withholding information from their child, particularly in early teens when they are thinking about their future and you are aware they don’t know the full picture,’ Sophie Devery, a genetic counsellor at Moorfields, says. Most parents do tell their children, she adds, 'but obviously we can’t get involved because that is the parents’ decision.’ 'It’s very difficult for parents to balance the difficulty of telling their child they have tested positive,’ Dr Newbury-Ecob acknowledges, 'the distress that may cause, the anxiety for the child, and how it affects the parent/child relationship, against the long term, where if they choose not to discuss things and the child finds out through a third party, that can be very damaging for the relationship because of the breakdown of trust.’ Retinitis pigmentosa (RP) causes the slow disintegration of retinal cells: first the rods, which enable vision in low-light conditions (the first symptom of RP is typically night blindness); then the cones, which detect light and colour. As time goes on, many sufferers are left with narrow tunnel vision. There is a lot of individual variation in the disease. Some sufferers are blind by their early thirties; others can still have good eyesight into their forties and fifties. About 25,000 people in the UK suffer from RP (one in 3,000), and there is currently no cure. There are three main hereditary patterns: 'dominant’ requires only one abnormal gene from either parent; 'recessive’ requires an abnormal gene from both parents; and X-linked, where only males are affected after inheriting one abnormal gene from their mother. Genetic testing for the disease was first developed in 2003, but still only about half of all RP cases can be genetically tested (the dominant and X-linked forms). And although it is inherited, half of all cases come as an abrupt shock. 'Most of those are recessive but some are X-linked, where there hasn’t been a male born for some time with it,’ Anthony Moore, a professor of ophthalmology and an honorary consultant at Moorfields, explains. The other slightly unusual aspect of RP is that it is not always necessary to do a genetic test to get advance warning. It can be stumbled on during routine eye examinations and confirmed by an optician looking at the back of the eye (the tell-tale sign is changes in pigment). Ben Jones is now 31 and in his second year training to be a vicar at Trinity College, Bristol. He is tall and slim with messy dark hair and an endearing boyish buoyancy. We meet in his light-filled flat in a residential suburb of the city, where he lives with his wife, Victoria, a stay-at-home mother, and their children, Evie, two and a half, and Caleb, four months. His father, Stephen, is visiting for the day (his parents now live in Newbury, where the family moved soon after Ben was diagnosed). Both father and son exude a wry humour, which suggests that this is their way of coping with the seriousness of the condition. Ben was registered blind aged 17, and has used a white stick for the past five years. Yet he is not completely blind. He cannot see anything in his right eye, but has narrow tunnel vision in his left, as if seeing through a straw. Normal vision is 180 degrees; Ben’s is two degrees. 'So from here, if I look at your right eye I can’t see your nose,’ he tells me. 'In fact, if I look in your eye, I can’t see your eyebrow. So at any given moment I can only see a tiny area, and I make up the picture by not just looking at one place all the time.’ In good light, he can still read, work on a computer and watch television. It transpires that both of his parents were carriers of the RP gene (the recessive type), but did not know it. Consequently, Ben had a one in four chance of getting the disease. (His sister has been examined, and has no signs of RP on her retina, but she has a 50/50 chance of being a carrier.) Stephen and Lesley decided to tell their son as soon as he was diagnosed. 'I’m not very keen on secrets and holding things back from people,’ Stephen explains. 'Obviously we didn’t spend our time saying to Ben, “You’re going to go blind.” You can protect your child by being entirely open, but not laying it on thick, and doing it as gently as possible. So when something arose like a forthcoming visit to Moorfields or if Ben trod on the cat, we would talk about it with him. The thing we did debate in the family was the extent to which we should tell his friends, and we all agreed from the outset that we should be very upfront about it, so when the need arose, people were aware.’ Stephen spoke about RP at Ben’s secondary school. At first Ben’s only symptom was night blindness at the age of nine – in dim light, he struggled to find the door, for example. But by the age of 14 Ben had lost the sight in his right eye and the sight in his left eye was slowly closing in. At 17 he could no longer play in the school first team for rugby, basketball and football (he was in all three), and he was also noticeably stumbling into objects during the day. But he went on to study theology and computing at the University of Kent in Canterbury, and then trained as an RE teacher, which he did part time while also being a student worker at his church (where he met his wife). 'The fact that I’ve always known [about the RP] has made it easier to bear,’ Ben says. 'So at every stage I’ve known it’s going to get worse, but two years is the distant future when you’re 10. I can still see my kids and watch football on the telly, and at some point that is probably not going to be the case, but I don’t really think about that because I don’t know when that’s not going to be the case. I suspect that everything about this was much more disturbing for Mum and Dad than it was for me. And maybe that’s partly because I am relatively chilled out anyway, but also because I was told when I was eight and when you’re eight you just take stuff in your stride.’ Ben’s having RP also means he is a carrier and therefore has the potential, if Victoria is a carrier too (which they don’t know and don’t want to know at this stage), to have passed it on to their children. Does he want to get his children tested? 'If one of them starts showing signs or even the vaguest problem, then I’d want to, but I’m not in a desperate rush – not because I don’t want to, but because it seems like an enormous amount of effort to go to for an off-chance.’ RP meant Ben abandoned his dream of being a professional footballer, and he regrets not being able to go to nightclubs – 'not being able to see or hear is a very bad combination’. Walking without a white stick in an area he doesn’t know makes him feel vulnerable, but in familiar surroundings such as his home, which is unmodified, he moves freely – he puts a glass of water directly in my hand. When talking of the difficulties of RP, Ben is predisposed to focus on the comedy: bollards are, painfully, ' always at knee height’; he walked up to his waist in a small lake at Kew Gardens; he fell down a manhole while on a school trip to the theatre. 'I did the whole cartoon thing, legs twirling in the air, before plummeting.’ 'Ben has taken RP in his stride all his life,’ Stephen says, 'even when he was going through his “Kevin” years’ – Ben’s teenage rebellion included riding motorbikes and quad bikes around a friend’s farm and subsequently doing badly in his A-levels – 'but in terms of RP I’ve never heard him say, “It’s not fair” or “Why me?” or “This shouldn’t have happened.” He has just got on with life.’ Ben says his decision to become a vicar wasn’t dictated by his sight, but by the fact that he had always wanted to be a vicar. 'In fact there will be issues – I won’t be able to be in a rural parish, for example, because I can’t drive and a lot of churches are quite dingy.’ Likewise his decision to marry young (he was 25 when he met Victoria) and have children was simply down to 'finding the person I knew I wanted to spend the rest of my life with’. Has knowing the future made Ben want to see as much as he can while he can? 'I think so, but it’s hard to say what is me and what is the eyesight problem,’ he says. 'I’ve always been someone who wanted to experience life.’ He aims to continue bungee jumping and white-water rafting no matter what. 'But there has been some stuff I wanted to do before going blind. I will be forever grateful that whatever happens, I got to see my children.’ Not long after meeting Ben I went to see Tom Walker, a pharmacist, 39, in Newcastle. He is married to Elizabeth, a graphic designer, and they have three children, Charlie, 10, Hannah, eight, and Emily, four. Hannah was diagnosed with RP when she was three and a half. Both Tom and his wife are carriers of the recessive form of RP, and so have a one in four chance of having a child with RP. 'I noticed Hannah didn’t see particularly well in the dark,’ Tom says. When he read her a bedtime story and the light was low, she couldn’t see the pictures on the page. If her teddy bear dropped off her bed, she couldn’t find it. Their GP referred them to a consultant at the eye hospital who diagnosed fast-acting RP, where the degeneration is rapid. 'They told us she would be severely visually impaired by school age.’ Tom and Elizabeth were devastated. Hannah had just started nursery. The vexing question was what to tell Hannah. 'You carry the responsibility for a child at that age,’ Tom says. 'She wasn’t old enough to understand.’ So they did not discuss it with her. And they still have not discussed it with her, partly because Hannah’s predicted deterioration has yet to happen. 'She is long-sighted but no more or less than any other child in her school who wears glasses,’ Tom says. Hannah is the sort who loves to put on shinpads and kick footballs. 'It’s only a matter of time, we know that,’ he says. So will they discuss it with her? 'What’s the trigger?’ Tom says. 'Is it four and a half, five and a half, six? When would you consider a child to be old enough to cope with knowing that she will go blind? ’ Tom’s eyes fill with tears. He is heartbroken and confused. 'It’s hard for us to accept and that’s why I’d like to tell her on the day they find a cure, because that is easier to deal with.’ There are two treatments currently in clinical trials in Britain: gene therapy, where good copies of the gene that is faulty are injected into the retina; and artificial retinas or the 'bionic eye’, where an electronic chip sits on the retina stimulating light-sensitive cells. Neither offers a complete cure and neither is imminently available on the market, but both are the focus of widespread hope. Tom says that he and his wife rehearse telling Hannah in their minds. But not telling her has advantages. 'The innocence of childhood,’ he says, 'Protecting your child. Would you want to know that you were about to step out of that door and get killed by a bus? Most people wouldn’t want to know the future, you just want to live life to the full. That is what I want to do with my daughter. I want her to live life to the full.’ He adds that both sets of grandparents agree that not telling Hannah yet is the right thing to do. As do friends and other members of the family. The only person who disagrees is the consultant who diagnosed Hannah’s condition. 'He’s advised what he would do in my situation – tell her – but respects my decision not to,’ Tom says. Most parents explain in a simple way once their child is at school, Prof Moore says, but 'there is a minority who do not like to discuss it. There are some families where even the grandparents do not want to talk about it. They feel very guilty.’ But not telling opens up other problems. Hannah has to be removed from the consulting-room during discussions at her yearly check-ups and has started to ask why 'Daddy has gone back to talk with the man’. And the fact that they have confided in close family, friends and teachers (so Hannah can sit at the front of the class to see the blackboard) means that there is the potential for information to leak out. 'It’s a bit of a tightrope we walk because we don’t want Hannah to find out in the playground from another child whose parents have discussed it with someone else,’ Tom says. And not telling requires ingenuity. Hannah has started to ask questions about why she cannot see as well as her friends at night. So far her parents have answered by saying everyone is different – 'kind of skirting around the issue’. 'It would be very easy to bury your head completely and that would not be the right thing,’ Tom says, 'because when we do talk to Hannah about her eye condition she is going to want to know what we did. Did we try to look for a cure? Did we try to raise money to help with research? How far did we go on her behalf knowing what we knew? So we do sponsored events and charity things and I’m involved in the RP society for that reason.’ Tom swallows hard. 'Just to explain to her when she’s older that we tried to do things… tried to help her, even though she didn’t know.’ For privacy the Walker family’s names have been changed for this article THE X-LINK FACTOR Foundation Fighting Blindness - Feb 2011 Consortium Makes Major Strides in the Development of Treatments for X-Linked RP After three years of intensive research on multiple fronts, a consortium funded by the Foundation Fighting Blindness is reporting significant progress in the development of vision-saving treatments for X-linked retinitis pigmentosa (XLRP). “X-linked RP is a particularly aggressive retinal degenerative disease, and at the same time, is relatively prevalent. So the need to take action is strong,” says Dr. Stephen Rose, chief research officer, Foundation Fighting Blindness. “By establishing the consortium, we are able to collaborate as a team to identify treatment opportunities and then apply a full court press in developing them. The strategy has paid off well.” The XLRP consortium is focusing its efforts on multiple gene therapy approaches, as well as a protein-based treatment that inhibits retinal cell death. The team is also performing natural history studies to better understand the progression of XLRP and how well potential treatments are working. Gene therapy for XLRP is furthest along in development and could move into clinical trials within the next two to three years. Dr. Rose says that consortium investigators have been able to leverage the research successes for other retinal conditions, including gene therapy clinical trials that are restoring vision in children and young adults with Leber congenital amaurosis (LCA). Dr. Jean Bennett, the lead investigator for the LCA gene therapy clinical trial at The Children’s Hospital of Philadelphia, is achieving excellent results in preclinical studies of XLRP gene therapy, which uses the same gene delivery technology — adeno-associated viruses (AAVs) — used in the LCA trial. Gene therapy is an attractive approach to treating XLRP, because 70-80 percent of XLRP cases are caused by a single gene called RPGR. In other words, an RPGR gene therapy could potentially help 70-80 percent of all people with XLRP. One of the challenges in delivering the RPGR gene to the retina is its size. As genes go, it is rather large. To overcome that limitation, Dr. William Hauswirth of the University of Florida is developing an XLRP gene therapy that delivers a region of RPGR known as ORF-15 to the retina. ORF-15 is where disease-causing variations in RPGR commonly occur. He, too, has obtained excellent results in preclinical studies. On another research front, Drs. David Zack and Debra Thompson at the University of Michigan are conducting preclinical experiments of a protein called X-linked Inhibitor of Apoptosis Protein (XIAP) to slow or halt vision loss from XLRP. The investigators have shown that XIAP slows retinal cell death and loss of vision in preclinical testing. Functional and structural evaluation of the retina is critical to the development of these various XLRP treatments. Dr. John Heckenlively at the University of Michigan, a leading retinal physician, is an expert in conducting both retinal examinations and tests that measure retinal activity. He will help investigators understand how well emerging treatments are working in both lab and clinical studies. Dr. Rose notes that while the consortium is aiming at XLRP, the knowledge coming into and out of their studies is relevant to a wide range of retinal conditions. “The consortium has benefited greatly from the knowledge gained in the LCA clinical trials and other cross-cutting studies, and I know other research groups are watching the progress being made in XLRP very closely,” he says. OMEGA-3 Studies continue to show the benefit of incorporating fish regularly into your diet. "We found that it (Omega-3) had as big an effect as the current drugs that are used in these diseases, so this is huge in terms of increasing medical costs that are occurring in all countries," Dr Lois Smith, a professor of ophthalmology at the Harvard Medical School said. So with that in mind, here’s a recipe from “Cooking for VIPs” by Maxine Turkington (www.tips4vips.co.uk) PEPPERED TUNA STEAKS Like good steak, fresh tuna should be eaten as rare as possible – so make sure it’s very fresh. Rated E – Easy and requires minimum effort in preparation. Serves 4 INGREDIENTS 250 ml (1Cup) orange juice 110g unsalted butter, softened 1 tea/s lemon juice 1 tab/s whole grain mustard Salt & pepper to taste 4 fresh tuna steaks of similar thickness 2 tab/s olive oil 4 tea/s cracked black pepper PREPARATION Gently boil the orange juice in a small saucepan until reduced and thickened. Slowly whisk in the butter on medium heat: remove from the heat and add the lemon juice, mustard, salt and pepper. Brush both sides of the tuna steaks with olive oil and a sprinkle of cracked pepper. Grill on high or sear in a hot pan until medium rare, about 2-3 minutes each side. Serve immediately with the sauce (reheated if necessary). Goes well with mashed potatoes and grilled sweet peppers, or salad. Azabats at Qld Art Gallery The Queensland Art Gallery is an unusual place to find RP’ers meeting but then, the Azabat group are a little unusual themselves. Originally a collaboration between Jorge Lopez of Guide Dogs Queensland and RAQ’s own Geoff Munck, this group attracts teens and older who are looking to put a little more zest in their lives.  By exchanging stories, experiences and invitations to adventure, our lively group find ways to not only cope with the frustrations of RP but to excel at having fun doing so. “Sporting adventures, stimulating socializing, help with vocational experiences and just plain lifestyling it, nothing is so challenging that we won’t consider it,” says Geoff Munck.  For example over the last twelve months we had a team of adventurers who headed off to Hervey Bay for a weekend of sailing on yachts of the Hervey Bay Boat Club.  I personally capsized a racing skiff twice in a thunderstorm on the Brisbane River.  We have been seen at Melbourne Cup lunch at Park Road,  dressed for belly dancing at South Bank and belting out loud, bad rock and roll on electric guitars at my house.”  But it’s not all about the RP’er. Partners are definitely included.  They can see how other couples and families are faring, borrow tips that work and ignore ones that don’t and contribute from their own experiences too. The Gallery was chosen because it is recognizable, easily accessed and on all transport systems.   Azabat meets on the last Friday or each month at the Water Court Café in the Queensland Art Gallery at around 11.00 am through lunch into the early afternoon.  Come along and stay for a long as you like and join the conversation.  For information about the next Azabat function call Geoff on 3701 7770 or email to munckies@mbox.com.au Low Vision Products Assessment Days Friday, 4th & Saturday, 5th March at the RAQ office in George Street, Brisbane. A great opportunity to take part in an individual assessment of Humanware products. You will be able to test equipment such as MyReader, SmartView Synergy, the Trekker Breeze GPS and more. The assessment is free and will take approximately 45 mins. You will receive an individualised written report. Bookings are essential so get in early and call the office on 300 300 65 RECENT DEVELOPMENTS IN RETINAL DEGENERATION A/Prof Erica Fletcher, Dr Ursula Greferath The University of Melbourne Associate Professor Erica Fletcher and Dr Ursula Greferath were recipients of Retina Australia funding in 2010 There have been considerable advances in our knowledge of the pathogenesis of inherited retinal degenerations over the last five years that have lead to the development of some very promising treatments. Below, we have summarized some of our own findings examining new animal models of inherited retinal degeneration, ways to slow photoreceptor death and also novel ways of replacing lost photoreceptors. i) New animal models: Most research into the mechanisms of photoreceptor death has utilized animal models that carry mutations in rod associated proteins (e.g., rhdopsin). Whilst this work has been very important, it has little relevance to some of the rarer forms of retinal degeneration such as Leber Congenital Amaurosis. Recently, we have identified a novel mouse that replicates many of the features of one form of Leber Congenital Amaurosis. This mouse called the Histidine decarboxylase null mouse develops severe changes in the outer retina because the support cells of the retina lack proteins that maintain the correct position of the rods and cones. These mice will be used by us now to study some of the rarer forms of retinal degeneration. ii) Slowing photoreceptor death: much of our work over the last few years has been directed at examining whether dying rods release a toxic factor that affects neighbouring photoreceptors. Our work has shown that the energy molecule, ATP is released in large amounts from dying rods and accelerates the death of neighbouring cells. We have tested two drugs known to block the action of ATP, and shown them to slow photoreceptor death in a mouse model of retinal degeneration. In addition, we have found that the rate of photoreceptor death is slowed in transgenic mice that lack the expression of the receptor to ATP. Agents that block the action of ATP are under development by large pharmaceutical companies because of their potential role in controlling some forms of pain. We hope our work expands the possible uses of these compounds into the ophthalmic area. iii) Novel ways of replacing lost photoreceptors: The two most exciting developments to restore vision in those who have few photoreceptors remaining are the development of electronic implants, and the use of gene therapy to target visual pigments to the remaining neurons of the inner retina. There are currently two large groups in Australia developing electronic implants to restore vision. One group is designing retinal implants: a wide-field device that sits underneath the retina, and another high visual acuity device that is designed to target the output neurons of the retina. It is hoped that trials for the wide view device in patients will begin in the next year. The high visual acuity device is currently undergoing preclinical testing. A second group, based at Monash University is designing an implant to be inserted into the visual area of the brain. This device, is intended to restore vision in those who have no remaining ganglion cells or an intact optic nerve. Currently this device is undergoing extensive preclinical development. Gene therapy has been used to target visual pigment to inner retinal neurons. The inner retina of those with inherited retinal degeneration is usually intact. By using gene therapy, inner retinal neurons can become light sensitive, performing the duties of photoreceptors. These studies are very exciting because the technology can be used in most patients with inherited retinal degeneration irrespective of the specific genetic cause of the disease. In summary, over the last few years our knowledge of inherited retinal degeneration has increased dramatically, to the point where treatments are now being tested in patients, with exciting results. SOME ONE-LINERS • How is it one careless match can start a bush fire, but it takes a whole box to start a campfire? • Dolphins are so smart that within a few weeks of captivity, they can train people to stand on the very edge of the pool and throw them fish. • Whenever I fill out an application, in the part that says "If an emergency, notify:" I put "DOCTOR". • I didn't say it was your fault, I said I was blaming you. • Why do Americans choose from just two people to run for president and 50 for Miss America ? • A clear conscience is usually the sign of a bad memory. • You do not need a parachute to skydive. You only need a parachute to skydive twice. • Always borrow money from a pessimist. He won't expect it back. • Hospitality is the art of making your guests feel like they're at home, even if you wish they were. • I used to be indecisive. Now I'm not sure. • You're never too old to learn something stupid. • To be sure of hitting the target, shoot first and call whatever you hit the target. • Change is inevitable, except from a vending machine FIND-A-WORD COLOURS X T H G E P F M T C K I K E M X T B V Y H C E V R X V U R E D N E V A L U R C R E C U L C E R C C X C B K Q G G N O H O T A A D O Q E A H H N X F P E J T W A V M R M E U I I N L O S D P D N L S N R I S O K O P R V I M A T I N E T I E P T A S S I T E W O L L E Y O A U A C H O R A E S M T V Q A Y N E R Q O Z I Y C G E S E V S T L S J F D A U B U R N A W I U L P I C R I M S O N N A Q U A J N D D S K W I K A H K F G N X U B T A D E R N E M B U C M W K E I X F L G D Q G P C I K Q K L V U Y L J S X A R E R R A O G J S M X M U L D K P K C S S C E U X V U C H L U T R E M M T K V W X R L Y B K N H N H AQUA AUBURN BURGUNDY CHARTREUSE CHESTNUT CRIMSON CYAN FUCHSIA INDIGO IVORY JADE KHAKI LAVENDER MAGENTA MAUVE PEACH SALMON TURQUOISE WISTERIA Dear Members and friends Amnesty declared for the 30% of members who are non financial! Here’s your chance to get your membership up to date for just $20 (individual) or $25 (family) regardless of when you last paid! June is the month for renewals so be prepared to find the form with your next newsletter. To make it even easier, there is no need to fill in the form if you would just like to phone the office with your details and pay by credit card over the phone. If you have an interest in inherited retinal disease then show your support for your association and renew your membership in June. Financial members contribute to research through the Retina Australia research fund. CHRISTMAS RAFFLE PRIZES 1ST PRIZE - $350 COLES/MYER VOUCHER – Alecia Mugavin 2ND PRIZE - $150 COLES/MYER VOUCHER -  Jenny Marsden, Wellington Point 3RD PRIZE - $100 COLES/MYER VOUCHER -  Margot Junge, Glenwood BOB’S SLEIGH – Keith Simpson NIGHT’S ACCOMMODATION ROTP  -  Keith & Margaret Simpson, Cleveland HAMPER – Bryan Forster PUDDING – Dianne Ferguson COFFEE MORNINGS Coffee mornings this year will be on the second Thursdays of the month. We have some interesting speakers coming up. In March a library staff member will take us on a tour of the library, highlighting the Large Print and Audio Book collections, and also introducing our downloadable eBook collection, which is available on our library catalogue, online. She will meet us at 10:30, after we’ve had our cup of tea. If you would like to be able to borrow on the day, you will need to organise membership beforehand, either at your local library or at the city library. Next Issue Deadline for articles 15th May 2011 EYE-Q NEWS • AUTUMN 2011 • ISSUE 93 PUBLISHED BY RETINA AUSTRALIA (QLD) INC. - 2 -