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Winter Newsletter

August 2000, Number 6

Editorial

As I write this column the temperature outside is more like late Spring in Dunedin, but the calendar tells me that it is still winter! It is the mildest one I can remember here. On the 26th June it was announced that a working map of the human genome had been completed, as 90% of it has now been decoded. This is amazing news as it is a few years earlier than expected. This project is one of the major achievements of our time and will soon begin to affect everyone in this society.

The human genome project is helping immeasurably to speed up the sequencing of human genes. This means that researchers can more quickly look at genes expressed in the retina to see if they contain mutations causing disease. With that knowledge, researchers can understand the gene's function in the retina and learn how the mutation causes vision loss. Then, they can develop therapies like the experimental treatment for Lebers congenital amaurosis, featured in this issue, that overcome the effects of the gene defect.

To quote from Time magazine of 3rd July "The age of genomic medicine is here. The sequencing of the human genome just marks the ceremonial start".

Retina President Tony Haas and International Delegate Bryan Jones have recently returned from the Retina International Congress and Conference in Toronto. From their brief reports so far, it was an outstanding conference with major scientific advances being reported in the understanding of the retina. They have much to report at our AGM on the 30th September in Dunedin. We hope to feature these reports in our next newsletter for all of you who cannot be there to share in the excitement. Three of the research articles in this issue give you an idea of some of the current research which they will bring right up to date.

We have another article in the home design series, this time it is "Designing your Kitchen", as well as an article about Fraser Alexander, the Auckland Branch Chairman and three more letters. Keep those letters coming, we love to hear from you all.

JUNE OMBLER

207 Forbury Road, St Clair, Dunedin.
Phone: [03] 455 8813
Email: jombler@xtra.co.nz FROM THE PRESIDENT'S DESK by Anthony Haas
www.retina.org.nz

Retina New Zealand members have the chance to help eye doctors help current members and others with retinal dystrophies. The chance to help is enhanced by working together in the build up to World Retina Day on the last Saturday in September and as we digest the good news out of Retina International's Toronto conference. We are strengthened by the positive attitude of leaders amongst eye doctors, the talent in our four New Zealand branches and Scientific and Medical Advisory Board.

Our World Retina Day strategy is to lead eye doctors to Retina New Zealand's website so that they and their receptionist are encouraged to print off information for patients. The sections on each retinal condition, drawn largely from the US Foundation Fighting Blindness, and the information we can keep adding, can be easily found on the ophthalmologist's office PC and printed out so that patients do not have to leave the appointment with confusing verbal accounts of the condition. The eye doctor's service can reasonably be expected to include a print out of Retina New Zealand website information on the condition and over time, more support information. The patient and their families and other advisers such as our own growing team of peer supporters can go back to the website and extend knowledge we facilitate, for themselves. Information on the website and in our printed resources, and resources to which we link, can incorporate more on prevention and coping.

People can be reminded that regular visits to an eye professional are sensible precautions for spotting problems ahead, that smoking might encourage macular degeneration, that sunsmart anti glare glasses might increase comfort and reduce risk.

Please join the World Retina Day programme by encouraging eye doctors, and consumers, to use and develop our website and the information traceable through it.

Tell people the site and our print resources are being developed to help professionals, consumers, families and carers to better inform those with retinal dystrophies about how to cope and what to hope for as scientists and their allies make the fruits of breakthroughs publicly accessible. Inform people that we are pooling and linking to information and better communication channels so that we can build a more helpful community around Retina New Zealand.

Tell people this year's New Zealand delegation to Retina International's conference feels hopeful about the potential from the gene, stem cell, pharmaceutical, therapeutic and other research. People with retinal dystrophies might want to be in trials of one or more of the discoveries that could help people in this or the next generation.

Eye doctors, opticians, RNZFB staff and health decision makers should be given access to the scientific information online, that gives us hope so they can help people like us when drawing on their services.

The website will be developed to enable us to invite professionals such as ophthalmologists, optometrists, scientific and medical advisers to contribute informed opinion to current discussions. We will give them the chance to be identified as sharing their knowledge on recent advances. Eye professionals and consumers and their services are being invited to use the same communication channels and community of interest. Tell your local media what is happening.

You, Retina New Zealand branch members, are being invited to help carry our invitation to your local professionals - directly and through the media that influence them. Following the successful distribution of the Retina New Zealand brochure we will email the professionals - helped by email addresses branch secretaries should assemble. We will email them now and again about our web community and outline of the website and other resource content, and our links to other information sources that helps people like us hope and cope.

The development of the Retina New Zealand website and allied public education resources helps us provide better member services.

RESEARCH

STEM CELL RESEARCH PROLIFERATES AT ARVO From Tom Hoglund, U.S. FFB, 11 May 2000 (edited)

Over 10,000 scientists attended the Research in Vision and Ophthalmology (ARVO) meeting in Fort Lauderdale Florida this year and over 5,000 papers were presented. Among the most noteworthy developments, several researchers presented very recent findings with stem cells.

Stem cells are immature, precursor cells that have the ability to differentiate into almost any cell type found in the body. Because a single stem cell can theoretically reproduce itself an infinite number of times, researchers think these unique cells represent a possible source of healthy, disease-free cells for transplantation, including retinal cell transplantation.

Most amphibians and fish have the ability to regenerate new retinal cells to replace damaged cells. However, humans and other mammals lack this biological ability and so researchers have assumed that retinal stem cells did not exist in higher species. Recently, several laboratories have challenged this long-standing orthodoxy with the discovery of stem cells in the adult eyes of rodents. These exciting new findings spurred ARVO to devote a special symposium to stem cell research.

Dr Derek van der Kooy, a recent U.S. FFB grantee from the University of Toronto, and Dr Iqbal Ahmed, a U.S. FFB supported researcher from the University of Nebraska, each presented published studies on the identification of stem cells in the eye of adult rodents.

When cultured in a petrie dish in the laboratory, a single stem cell proliferated into 15,000 cells within one week. Further analysis found that these cells possess certain characteristics consistent with photoreceptor cells. Dr Rod McInnes, a member of the Foundation's Scientific & Medical Advisory Board, collaborated with Dr van der Kooy on his study.

Previous stem cell research has been focused on the use of embryonic tissue, where stem cells are known to exist. That these cells were found in adult rodents may obviate the need to conduct future stem cell research with embryonic tissue.

While these findings bode well, further work is needed to determine whether stem cells can become fully functioning photoreceptor cells. Because these cells do not proliferate inside the body, researchers hypothesize that certain inhibitory factors keep these cells dormant......

RESEARCHERS RESTORE VISION IN AN ANIMAL MODEL OF CHILDHOOD BLINDNESS - 26 June 2000 by Tom Hoglund, Communications Director, U.S. FFB

In a groundbreaking study published in the July issue of The Proceedings of the National Academy of Sciences, researchers rapidly restored lost vision in a mouse model of Leber congenital amaurosis (LCA) using oral doses of a chemical compound derived from Vitamin A. LCA is a group of severe, early-onset, autosomal recessive retinal degenerative diseases causing rapid vision loss at birth or during very early childhood. This finding represents the first time researchers have restored vision in an animal model of retinal degeneration.

In this study, Dr Krzysztof Palczewski of the University of Washington, Dr Samuel Jacobson of The Foundation's Research Center at the Scheie Eye Institute of the University of Pennsylvania, and their colleagues orally administered doses of a chemical called 9-cis-retinal to 8-to 12-week old mice with a form of LCA. Using electroretinograms (ERG), a diagnostic tool that measures visual function, the researchers found that treated mice experienced a profound restoration of vision. By comparison, untreated mice of the same age have severely depressed ERG readings indicating very little vision.

Commenting on this study, Dr Gerald Chader, Chief Scientific Officer of The Foundation Fighting Blindness said, "That Drs Palczewski and Jacobson were able to restore lost vision in an animal model with a severe retinal degenerative disease offers hope that we may be able to develop sight-restoring treatments for other forms of retinal degeneration before retinal cells die. With advances in genetic research, we are at last able to understand the causes of vision loss and develop treatments that overcome a gene defect."

LCA Can Be Caused By A Block In The Visual Cycle. As light enters our eyes, the retina turns it into an electrical signal through a biochemical process called phototransduction. This signal is then relayed to the visual cortex of the brain, where visual perception occurs. The visual cycle allows us to continually process light energy so that we can see again and again throughout our lives.

In 1997, Foundation researchers discovered disease-causing mutations in a gene called RPE65 that account for an estimated 10 percent of all LCA cases. The RPE65 gene product is abundantly expressed in a layer of cells adjoining the neural retina called the retinal pigment epithelium (RPE). RPE cells support the function of photoreceptor cells in the retina by providing essential nutrients and eliminating digested waste products. As part of the visual cycle, RPE cells convert Vitamin A into a chemical that combines with a molecule found in rod photoreceptor cells to form rhodopsin. Rhodopsin is the visual pigment in rod photoreceptor cells that initiates phototransduction.

In 1998, after cloning the RPE65 gene, Foundation-supported researchers next developed a mouse model of LCA that disrupts the function of the gene. This mouse model, known as the RPE65 mouse, enabled researchers to study the specific cause of vision loss in LCA at the cellular and molecular level. Through this animal model, it was determined that the RPE65 gene product is critical to the visual cycle and phototransduction.

A mutation in the RPE65 gene disrupts the visual cycle, thus preventing the formation of rhodopsin and the process of phototransduction. Without rhodopsin, photoreceptor cells cannot function, and vision loss ensues. Further investigation of the RPE65 mouse revealed that, although vision loss occurs rapidly, photoreceptor cells do not immediately degenerate and die. This finding led researchers to test treatments that might compensate for the defective gene. By making the chemical 9-cis-retinal directly available to RPE cells, the researchers successfully overcame the effects of the dysfunctional RPE65 gene, allowing the mouse's retina to produce an artificial rhodopsin that restored vision.

Where Do We Go From Here? Although this study was of a short duration, it holds exciting possibilities for patients with LCA resulting from mutations in the RPE65 gene. With "proof of principle" now established for this treatment, Drs Palczewski, Jacobson and colleagues are conducting further experiments to better evaluate the safety and efficacy of this treatment. Researchers must determine how long the vision improvement lasts and if there is any long-term toxicity. Another important issue is how early and how late in the disease process one can successfully intervene. Because there is some interval between the time retinal function is lost and photoreceptor cells die, it needs to be predetermined whether older patients are suitable candidates for such a treatment. Modern techniques of clinical evaluation should allow for these questions to be addressed in patients. Considerable work will thus need to be completed in the laboratory and clinic before clinical trials can begin.

Lastly, because this treatment specifically addresses the RPE65 gene defect, LCA patients must first be genetically identified to determine whether they are future candidates for this therapy. Besides RPE65, there are four other genes with mutations that each cause LCA. Unfortunately, LCA patients with these other gene defects would not be expected to benefit from this treatment.

VISION RESEARCHER FIRST TO IMPLANT AN ARTIFICIAL RETINA IN HUMANS:

From U.S. FFB Communications Director, Tom Hoglund

For the first time ever, researchers from a company called Optobionics surgically implanted an artificial retina into three patients who are blind from retinitis pigmentosa. These highly-experimental prosthetic devices, made of silicone computer chips, are intended to restore ambulatory vision, thereby giving people the freedom to walk without the assistance of a cane or guide dog. The company's device, called an Artificial Silicon Retina (ASR), is designed to function much like a photoreceptor cell in the retina. In retinal degenerative diseases, such as RP, macular degeneration and Usher syndrome, photoreceptor cells degenerate and die.

In studies supported by the U.S. FFB, researchers found that, despite the loss of photoreceptors, much of the remaining nerve cell network in the retina remains relatively healthy. This finding led researchers to begin developing computer chips that might function in place of photoreceptor cells.

The ASR is 2 mm in diameter and one thousandth of an inch in thickness, making it thinner than a human hair. It contains 3500 solar cells that are designed to convert light into electrical signals.

Optobionics is based out of Chicago and headed by Dr Alan Chow, a member of the U.S. FFB Surgical and Implant Advisory Committee. According to Dr Chow these experimental implants are part of a Food and Drug Administration approved feasibility and safety study to see whether the device can be safely implanted and whether it is well tolerated in the human eye. For these three operations Dr Chow implanted a smaller version of the ASR device in the periphery, or side, of the retina. Dr Chow also hopes to gauge whether patients gain any visual perception where the chip is implanted. The operations, performed on June 28 and 29 respectively went well and the patients are at home recovering from the surgery.

In the past, researchers have performed very brief experiments to stimulate the retina in patients without vision. However, this is the first time anyone has implanted a device in humans. Although there is still a great deal of remaining research before such a device will be available to patients, news of these first-ever surgeries is a sign that artificial retinas are advancing toward clinical trials. Several other research groups are also working to develop an artificial retina.

LUTEIN SUPPLEMENTS MAY IMPROVE VISION

23 May 2000

A substance found in dark green leafy vegetables and egg yolks may improve vision in people with retinitis pigmentosa (RP) and other degenerative eye conditions, according to a study initiated and co-ordinated by Ingrid Zorge and analyzed by Tom McDonald, two RP's. Gislin Dagnelie, Ph.D., Assistant Professor of Ophthalmology at Johns Hopkins Wilmer Eye Institute, researched and published the study, whose subjects were recruited from the internet and tested via e-mail.

Twelve of the 16 study participants with retinal degenerative conditions reported that taking daily supplements of the substance, called lutein, over a six-month period significantly improved their vision. Lutein is an antioxidant needed by the retina (the light-sensing layer in the back of the eye) to neutralize the damaging effects of short wavelength light and free radicals. Study results were published in the March issue of Optometry, Journal of the American Optometric Association. Study participants were recruited after a number of international retinal degeneration patient e-mail list noted that several of the electronic pen pals said their vision improved after adding lutein supplements to their diets. She then asked Gislin Dagnelie for help in designing vision tests for a study of the supplement.

The subjects took lutein supplements with breakfast every day for six months, 40 mg/day for nine weeks and 20 mg/day thereafter. Half of the participants also took 500 mg/day of DHA [a fatty acid found in fish oil], Vitamin B complex and digestive enzymes. Ten of the participants who already were taking Vitamin A and/or beta carotene continued to take those supplements. They tested their vision on eye charts sent as e-mail attachments and on wall charts they were instructed to create, and returned data via weekly e-mails to the study coordinators.

Besides the increase in visual acuity and visual field among most patients, the researchers noticed that blue-eyed participants had substantially higher gains In vision than dark-eyed participants. In addition, those who took Vitamin A and/or beta carotene supplements prior to the study seemed to benefit more than those who did not.

While lutein needs more rigorous study in direct observation of patients, Dagnelie says, scientists should not underestimate the potential of the internet to conduct low-risk studies, particularly in cases where specialized equipment is not needed to monitor results. He adds that it is very important for participants in such studies to be under local medical supervision, even if no side effects are anticipated.

COPING

DESIGNING YOUR KITCHEN - by Heather Arthur Rehabilitation Teacher and Techniques of Daily Living Practice Advisor, RNZFB.

When designing or refurbishing your kitchen, the following are considerations that may assist those with vision impairment to achieve a work area that is designed to meet individual needs and is user friendly.

Some aspects to be considered are:

• Use of high contrast. Colour contrast clearly defines areas and helps make items and objects more visible.
• Use of matt finishes on all surfaces reflects light while minimising glare.
• Use of high contrast colour assists with identification and definition of windows and doors, door handles, face plates on light switches and three pin plugs, facing edges of shelves, towel rails, etc.
• Dark colour benches butted with light colour walls clearly defines the work area. Dark colour benches assist in defining appliances and crockery, as these objects are more visible on a dark surface.
• Exploration of appliances that best meet the individual's needs results in appliances that are safe and user friendly.
• Placement of appliances for safe use: Where you intend to place the microwave for safe use is of prime importance as this may impact on the overall design of the area and the microwave options to be explored.
• A microwave needs to sit on or at bench level to ensure safe use, preferably with bench or shelf space in front of the oven, so that you can rest heavy items as they are removed from the microwave. When placed at head height there is a high risk of scalds from hot liquids as they are being removed from the oven.
• Soft touch keypad models are preferable to dial operated microwaves for the following reasons: They allow for versatility of cooking options, accurate programming including use of seconds for positive cooking outcomes. They are user friendly when tactiled and give audible feedback [beeps]with the push of each button. Talking microwaves are now available and can be purchased through the RNZFB or from the manufacturers. The cost varies as to whom they are purchased from or funded by.
• Another appliance that requires careful consideration is the stove top: Smooth-topped cookers are easy to clean. However, centring of saucepans may be difficult.
• Gas top considerations: Does it have audible feedback as it ignites? Can saucepans be centred easily and how easy are they to clean or wipe?
• Stainless steel appliances and surfaces are very fashionable in the kitchen. However, these may result in glare and the definition of controls, handles and edges may be minimal.
• Using natural light while controlling glare may be readily achieved with the appropriate window covering. An example of this would be to use vertical blinds which allow one to direct and control the direction of light while minimising glare.
• Skylights strategically placed may add light to a dark area. A note of caution - There is a great variety of skylights on the market, but some may be the source of an increased noise level when it rains. For example, this may result in difficulty identifying sounds such as liquid boiling or simmering.

Good lighting in the kitchen is essential for those with low vision. Lighting issues can be complex and deserve a separate article.

All aspects of kitchen decor and appliance exploration need to be undertaken before planning the actual design to ensure the needs of the individual are met.

The local Techniques of Daily Living Instructor is a resource you may like to avail yourself of when you are considering building or refurbishing a kitchen. Contact the nearest Royal NZ Foundation for the Blind centre in your area and ask to talk to the TDL Instructor.

PEOPLE

FRASER ALEXANDER, A THIRD MILLENNIUM MAN by Judy Lloyd.

Fraser Alexander is known to many as the energetic young Chairman of the Auckland Branch of Retina NZ, but Fraser wears many caps apart from this one. He is at present in charge of fundraising for the Auckland/Northland area for the RNZFB, he runs marathons, has a B.Sc degree and has travelled widely.

Fraser was brought up in Te Atatu South with his two brothers and a sister. None of his siblings or family members has the retinal dystrophy choroideremia, the eye condition which causes his eyesight problems. The symptoms of this condition are similar to those of RP. It is X-linked (passed on from mother to son as in haemophilia) and it is thought a gene mutation may have developed between his grandmother and mother, and this may have caused the problem. He was diagnosed with astigmatisim at 13 and, a full diagnosis was made at 23 when night driving became difficult.

As a young man Fraser attended Auckland University, where he studied chemistry and pharmacology. After this he worked as a pharmaceutical representative visiting doctors and encouraging them to prescribe his wares! Next came the big O.E. where he worked for three years in the U.K. for Carlton TV, selling Teletext. While in Europe he toured extensively and is still a keen traveller, having recently come back from a holiday in Mexico and Cuba. Last year it was Southern Africa and he has also visited North America.

One trip to America was to take part in the New York marathon, an event he very much enjoyed. Fraser is a keen athlete and has taken part in marathons in many countries. He has to have a sighted athlete to help him run (apparently this job is very much in demand by the fully sighted). He has to hold on to a guide rope while running, not always easy as you can imagine.

Fraser has worked for the Foundation for the Blind for the past three and a half years and very much enjoys the challenge of looking for sponsors and raising not only money, but also the profile of the RNZFB. His aim for the future is to continue this type of work, either with his present employer, or with a commercial company.

As the enthusiastic and busy Chairman of Auckland Branch, Fraser is looking to the future to help members of Retina NZ gain information and assistance, and he uses the Internet for this purpose, finding it a useful way of disseminating information on the latest research and offering support and advice to members.

Photo: Fraser Alexander (centre) in training for last year's New York Marathon.

Having very little sight is no barrier to this young man, who carries on exactly as if he could see where he was going - running marathons, travelling extensively, keeping up a busy social life. Keep it up Fraser, you are an inspiration to us all!

EDITORS NOTE: The Retina NZ website can be located on http://www.retina.org.nz and it is regularly updated. The next update will be on World Retina Day, 30th September.

NEWS FROM WELLINGTON BRANCH:

A non-commercial, non-profit radio station is to be set up to provide in-depth news and other information for those who cannot otherwise access the printed word. It will be a low power station accessible to those living in Wellington City, parts of the Hutt Valley, the West Coast up to Plimmerton and across to Blenheim. Volunteer readers will come from the Wellington Community and it is hoped to begin the service late this year or early next year. If you are interested in listening please ring Steve Inge, Chairperson Wellington Radio Service Inc. (04) 3838 422 or Fax (04) 3838 691.

LETTERS

From: Susan Kuranoff

Some of you know that I suffer from Refsum Syndrome which belongs to a broader group of diseases known as Leukodystrophies. Better known leukodystrophies are ALD and AMN, both of which are fairly severe. (You may be familiar with the movie Lorenzo's Oil which portrayed a young boy afflicted with ALD).

There is a leukodystrophy web site which plays host to a number of bulletin boards for discussion and interaction on the various Leukodystrophies. Last year I had been in contact with the host site to set-up a bulletin board for discussions related to Refsum's Disease. Now, more than a year later, there has been no response on the board and the host is thinking about removing it. I would hate to see it removed since I think it is a very valuable tool to foster communication amongst those of us affected. (You may know how valuable the internet RP List has been). I believe what needs to be done is to make people aware of the existence of the Refsum bulletin board world-wide and this is where you come in. I was wondering whether you could publicise the web site and the existence of the Refsum bulletin board in your Retina newsletter.

The web site can be located on http://www.amn.ald.ourfamily.com/

Once you are in the site you need to click through to the bulletin board section and then choose Refsum Disease Discussion from the number of bulletin boards available.

EDITOR's NOTE: If you have any problems contacting this web site, please let me know and I will try to send a message to Susan through Retina International.

From:
    Mrs E.Kleyn
    Flat 4
    14A Totara Street
    Trentham
    UPPER HUTT

I am a senior citizen and enjoy reading. I sponsor a puppy, so received an Outlook magazine. I am interested in learning more about public awareness of retinal degenerative disorders, any exercises or foods that can keep the eyes from deteriorating.

EDITOR'S NOTE: Eat plenty of fresh fruits and vegetables. The Optometrists' Society particularly recommends silver beet or spinach, corn, pumpkin and carrots. Scientific research is now being undertaken on whether some supplements such as Lutein are valuable but if you want to try these as well, always ask your doctor for his opinion first as some of them may not be right for your particular eye disorder. Healthy exercise such as walking is beneficial to everyone.

From:
    Ronald McColl
    20 Fuchsia Avenue
    HAMILTON

I am a long time sufferer with an advanced degree of RP. Up until recently I have been lucky enough to have a full time job but this ended six months ago. The good thing about this is that I now have a bit more time to be involved in other things. I chanced on your site and am interested in learning about your organisation. I would appreciate any info you could send to me even with the possibility I may be able to join.

S.A. and G.J. OMBLER TRUST:

Applications are invited from registered members of the Royal NZ Foundation for the Blind, who are under 50 years of age, wishing to undertake tertiary studies or are completing a course of study.

Applications should be submitted for payment of fees for the following year of study by 30th September 2000.

For further information and to request an Application form, please contact:
Mr Dave Wilson
TOWER Trust
P.O. Box 760
DUNEDIN

REMITS:

Remits to be discussed at the Annual General Meeting in Dunedin on 30th September 2000 are now called for. These must be received by the Secretary, Retina NZ Inc., P.O. Box 27-177, WELLINGTON by 30 August 2000 so that they can be sent out with the Agenda for the AGM. Individuals may submit remits as well as Branches".

A REMINDER ABOUT THIS YEAR'S ANNUAL GENERAL MEETING:

Otago/Southland Branch will be hosting the Society's AGM this year. The meeting will be held in the hall of the Royal NZ Foundation for the Blind Centre, cnr. Hillside Road and Law Street, Dunedin on Saturday, 30th September, 2000 at 11.00 am. After lunch provided by the Society, there will be the following speakers:

1. Mr Gordon Sanderson on "Low Vision Clinics".
2. Bryan Jones reports on the recent Retina International Congress and Conference in Toronto.
3. Peter Moodie of Pharmac on "Introduction of new Drug pharmaceuticals in NZ".

Otago/Southland members hope that many of you can join them for their big day.

Janet Palmer, National Secretary
P.O. Box 27-177, Wellington
Phone: (04) 389-1538. Fax: (04) 389-5254. Email:
retinanz@ihug.co.nz

CLOSING DATE FOR RECEIPT OF ARTICLES FOR THE NEXT ISSUE IS FRIDAY 3 NOVEMBER 2000.