Summer Newsletter

February 2001, Number 8

EDITORIAL.

Now we are in the third millennium by everyone's reckonings, welcome back to this newsletter. I hope you all had a satisfying holiday, whatever you managed to do. The year is flashing by as we are getting towards the end of February already, which last year was declared to be Age-related Macular Degeneration and Low Vision Awareness month by the American Academy of Ophthalmologists. To recognise the importance of this, the Foundation for the Blind has advertised for a Divisional Manager to head their newly created Blindness Awareness & Prevention Division.

With this newsletter all those members with an inherited retinal degeneration are being sent a newly published and updated booklet of "A Family Affair - a New Zealand Guide to Inherited Retinal Degeneration", published by Retina New Zealand. This new Guide is right up-to-date with current knowledge of these disorders.

Members with Age-related Macular Degeneration will have to wait a little longer. A booklet on Age-related macular degeneration is currently being drafted and when this is published, members with macular degeneration will be sent a copy with their newsletter.

During the Christmas break I read the two books on macular degeneration featured in our last newsletter as being available on tape from the RNZFB Talking Book Library and I highly recommend TB6668 - "Macular Degeneration: the complete guide to saving and maximising your sight" by Lylas Moqk, MD and Maria Moqk. The other book by Betty Wason is written for Americans to read and does not relate well to New Zealand.

After briefly shining a light into the eye with the splinter she casually said "You have Retinitis Pigmentosa and you are losing your sight. You had better make an appointment with an ophthalmologist!".

Your membership is due for renewal on 1st April, 2001 and we are enclosing a membership renewal form for you to complete and return with your cheque. Please post date the cheque to 2nd April, 2001 so that it appears in next year's accounts.

As this newsletter goes to press it has just been announced over the news that two papers have been published simultaneously in the prestigious magazines "Science" and "Nature" by the two rival groups identifying the human genome. Both of them come to the same conclusion independently - that the human genome consists of around 30,000 genes, far fewer than previously suggested. So man is a less complex creature than previously believed and only has a few more genes than the mouse! This will speed up genetic research into all sorts of diseases, including age-related macular degeneration.

We need more writers of articles for this newsletter. How about writing about yourself or a member you admire in your branch for our 'People' section, or an article on how you cope with a difficult problem, e.g. staying in a strange hotel on your own. We always need more letters to the Editor on anything that bothers you or that you feel will be useful to other members. Perhaps this society or another member can help you.

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

Retina New Zealand's strategy to reach out to others interested in what we are learning about coping with challenges to the back of the eye is being implemented. It is drawing on the strengths of younger people, and makes it easier for individuals to work with their branches to share their experiences.

Peer support Elizabeth East has been appointed National Co-ordinator for our Peer Support Programme, following the training workshop and development work carried by the chair of the Wellington branch, Pat Nicholson. Elizabeth's background and programme planning will be a useful part of future newsletters as she pulls us together, so that the dozen initial peer supporters we have brought to the fore can help callers on the phone.

The peer support programme's relationship to RNZFB activities and experience will be explored when Elizabeth joins the Retina New Zealand and Consumer consultations in Auckland in April - helping us all to work as a team to help those who want to talk with their peers about the challenges they are encountering.

Public Education The 2001 edition of "A Family Affair" - A New Zealand Guide to Inherited Retinal Degenerations - has been printed. It has an outside back page advertisement promoting our peer support through the RNZFB 0800 number, so that the consumers and professionals who get sent their copies of the 1000 we have printed will be able to help promote the peer support programme. We are sending a covering letter to our audience telling of the peer support programme.

This and more information will be able to be promoted on the Retina NZ website (www.retina.org.nz) that Fraser Alexander, chair of our Auckland branch, is building up for us. People who want peer support, or just to find us through their own internet use, should be able to get more and more information on retinal dystrophies as a result of our website content and the links from it to other relevant useful websites throughout the world. Our public education is not forgetting the print and other media - the Dunedin branch chair Helen Adams is co-ordinating the drafting team that is producing an even more consumer friendly booklet on macular degeneration.

Research The Dunedin branch has also been asked to help formulate a research strategy for Retina New Zealand. Funds from outside the RNZFB have been raised from New Zealand and from international sources to support research and blindness prevention - an approach that might also help Retina New Zealand in its relations with those who are reserved about RNZFB funds being used on these activities.

Administration Our Christchurch based vice president Kaye Newton has drawn together Retina New Zealand's budget proposal to the RNZFB for our grant request for the year from mid 2001. It proposes continuation of our peer support, public education and administrations programme - and is a transparent framework within which our membership and the RNZFB can propose desired continuity and change. Each programme is led by one of our four branches - and allows for branches and members to contract to implement projects in these programmes.

Policy and external relations Kaye Clark, our Wellington based policy secretary continues her monitoring of and input to the fast moving disability and health strategy and government administration process. Executive members have represented Retina New Zealand in meetings with other agencies such as the Disabled Persons Assembly - and the pace of dialogue will step up again as our delegation assembles in Auckland around ANZAC day to talk with the RNZFB managers and other consumer organisations from the Association of Blind Citizens to Parents of the Vision Impaired.

Our reaching out programme is unfinished - and our work programmes provide us with more substance to offer to others. My thanks to those who contribute their voluntary effort and professionalism to help people we should strive to help to hope and cope.

EXCITING NEWS FOR ALL OF US
From Professor Gislin Dagnelie, Ph.D, Lions Vision Research & Rehab. Centre, Johns Hopkins University, Baltimore USA.

The National Eye Institute announced the name of its new director yesterday, and he is none other than Paul Sieving, currently a professor of ophthalmology in Ann Arbor, Michigan. Yes, indeed, the husband of Pam Sieving, who so generously compiles for us a monthly reference list of published papers in the field of retinal degenerations.

I have known Paul for over 20 years through the International Society for Clinical Electrophysiology of Vision (the group of researchers and clinicians that establishes guidelines for the use of electroretinograms and visually evoked potentials, among other things), and that is just one of the many groups in which Paul has been very active. He has also been very active in the Foundation Fighting Blindness (I believe he is currently the chair of the FFB's Scientific Advisory Board), and brings a lot of FFB enthusiasm into the National Eye Institute.

Most of all, he is a wonderful clinician, a researcher with a broad area of expertise in the genetics of retinal degenerations and other eye diseases, but also an expert in psychophysics (measuring vision) and, as I said, electrophysiology. In addition, he has a law degree so he understands a lot about making policy, setting guidelines (as he has done in ISCEV and the FFB), etc. He has great empathy with his patients, and understands what those suffering from vision loss through eye disease are going through.

Why is all this important to us? In case you don't know, the National Eye Institute is the branch of the National Institutes of Health that funds research and sets policies in the area of eye disease. Although the director is far from alone in setting policies, and although the grant review process is completely out of his control, indirectly he has a lot of influence over the long-term direction of eye research in the US. Having someone there with a strong background in retinal degenerative diseases can be of great help to us in the long run, if only because he will give the NEI a strong voice when it comes to setting budget priorities in the US Congress, using age-related eye disease, and vision loss due to degenerative eye diseases as strong arguments for further funding increases in eye research.

RESEARCH

GENETIC DISCOVERIES IN THE NEWS
From US FFB Executive News, January 2001

Foundation researchers are discovering genes with mutations that cause retinal degeneration at an ever-increasing pace. Over the last two months researchers have identified several new mutant genes causing RP, macular degeneration and Usher syndrome three of which are described below.

1. Gene Mutation causing RP found in humans and rodent Drs Andreas Gal, Samuel Jacobson and Donald Volrath who led the original research effort an international team of vision researchers, discovered mutations in the Mertk gene that causes a severe, early-onset form of retinitis pigmentosa (RP). The stimulus to seek the gene mutations was the recent discovery that a Mertk gene mutation is responsible for RP in a well-known animal model called the Royal College of Surgeons (RCS) rat.

The RCS rat has been used successfully in numerous studies testing experimental transplant and pharmaceutical therapies. Animal models of human disease are critical to developing and testing experimental therapies. Discovery of Mertk mutations in humans allows researchers to better understand the causes of retinal degeneration and validates the importance of the RCS rat as a valuable animal model of human disease.

Mertk gene involved in Outer Segment Recycling The Mertk gene and its protein product are active in a layer of cells that adjoin photoreceptor cells called the retinal pigment epithelium (RPE). RPE cells perform a number of tasks that are critical to the health and function of photoreceptor cells. For example, RPE cells convert vitamin A into a chemical derivative that is necessary for vision. RPE cells shuttle oxygen and nutrients from the blood supply to photoreceptor cells. RPE cells also digest and recycle waste products created by photoreceptor cells.

One major source of waste products is the outer segment tips that photoreceptor cells shed during sleep. Outer segments, which under the microscope resemble a roll of wrapped pennies, absorb light and turn it into an electrical signal that is eventually relayed to the brain. RPE cells digest these spent outer segment tips and recycle their component vitamin A byproducts and fats back to the photoreceptor cells. The photoreceptor cell then uses these recycled materials to replenish its outer segments. This process results in a complete renewal of an outer segment in about ten days.

The Mertk gene is thought to play an important role in this continual renewal of outer segments. Researchers have known for some time that in the RCS rat, RPE cells are unable to ingest outer segments. The shed disks accumulate between the RPE and photoreceptor cell layers and, starting at the age of 21 days, the RCS rat experiences a rapid degeneration of photoreceptor cells. More recent investigation suggests that the Mertk gene encodes a protein that in some way allows the RPE cell to ingest the spent outer segment tips from the photoreceptor cells. Mutations in the Mertk gene prevent the RPE cell from ingesting outer segment tips and recycling their renewable resources. This accumulation of outer segments leads to rapid vision loss.

Mertk mutations in humans also lead to a rapid loss of vision. RP patients with Mertk mutations experienced night blindness and poor vision in early childhood, and by adulthood had only a small island of central vision. Researchers will next determine how common Mertk mutations are among patients with RP

2. Macular Degeneration A team of researchers including Dr Kang Zhang of the Cleveland Clinic Foundation and Dr Donald J. Zack of the Wilmer Eye Institute at Johns Hopkins University and Dr Radha Ayyagan at the University of Michigan Medical Centre reported that a mutation in a single gene - the ELOVL4 gene - causes two different forms of macular degeneration: Stargardt-like macular dystrophy and autosomal dominant macular dystrophy. Although Stargardt-like macular dystrophy usually has an earlier onset and is the more severe of the two, both diseases result in loss of central vision and acuity in childhood or early adulthood. This new finding suggests that since the same mutation in the ELOVL4 gene can cause either disease, other genes may modify the severity and course of the disease.

3. Usher syndrome type 1D In an article published in the January 2001 issue of Nature Genetics, Foundation researcher Dr Andreas Gal and colleagues describe the discovery of genetic mutations causing Usher syndrome type 1D. Usher syndrome is an autosomal recessive disease that causes moderate to severe hearing loss and retinal degeneration from RP. There are three types of Usher syndrome based on the severity and onset of clinical symptoms of the disorder. Usher type 1 is the most severe form of the disease. Scientists believe there could be as many as ten genes containing mutations that cause Usher syndrome. Foundation researchers have made three such discoveries in the past five years, uncovering gene mutations causing Usher syndrome 1B, 2A and most recently 1C.

NEWS FROM THE UNIVERSITY OF OTAGO RESEARCH GROUP
From Dr Marion Maw

Colorado Conference a stimulating experience. Red rock mountains with trees in autumn colours were the backdrop for the recent IXth International Symposium on Retinal Degeneration. A grant-in-aid from Retina New Zealand enabled masters student Ariana Hemara-Wahanui to attend this conference and to present results to date from her thesis project. Ariana says that meeting Dr John Heckenlively, author of Retinitis Pigmentosa, the textbook she refers to constantly for her research was a major highlight of the welcoming reception. The first session encompassed new genes and loci, where Dr Carolyn Hope and Ariana spoke about their work in partnership with a large whanau on clinical and genetic characterisation of an X-linked retinal disorder. The talk was well received with questions and feedback from the audience providing insight into the possible mechanism responsible for the disorder. Other sessions provided exposure to the multidisciplinary research that is being undertaken throughout the world with the shared goal of understanding and overcoming retinal disorders. Taking part in and learning from this symposium was a wonderful experience and Ariana would like to express her gratitude to Retina NZ for helping to make this possible.

TYPES OF VITAMIN A

For the last few years many people have asked whether they should take the recommended dose of 15,000 IU daily of vitamin A palmitate to slow their eyesight loss by several years. Some doctors advise against it and some believe that this will help. Whatever you decide to do, Retina NZ advises that you check with your doctor first before taking it regularly, do not take it if you are pregnant and get a check annually to make sure that your liver is not being affected.

The following question and answer tells you why it should always be vitamin A palmitate that you take if you believe that it will help you prolong your sight if you have RP.

Q. What is the difference between vitamin A palmitate and vitamin A retinol palmitate? And what are the benefits of the latter one?

A. Vitamin A is a compound that is in the form of an alcohol. The more chemical name for vitamin A is "retinol". Hence the "ol" at the end of the word signifying that it is an alcohol.

"Palmitate" comes from the words "palmitic acid", a chemical compound that is a long chain fatty acid. When retinol and palmitic acid combine chemically they form retinol palmitate. The palmitate form of vitamin A is more stable and less toxic than the free alcohol. Therefore, the recommended form of Vitamin A for RP patients is the palmitate form. In the gut, the palmitic acid is slowly cleaved off of the alcohol, freeing it to be moved into the eye. The palmitate form is simply a storage form of vitamin A that is easier to take. (Gerald G. Chader,Ph.D, M.D.hc).

FOUNDATION RESEARCHERS PUBLISH VITAMIN A SAFETY DATA

In 1993 Dr Eliot Berson and colleagues at the U.S. FFB Research Centre, the Berman-Gund Laboratory for the Study of Retinal Degenerations of Harvard Medical School, published results from a clinical trial, which found that a daily dose of 15,000 IU of vitamin A palmitate on average slowed the course of common forms of retinitis pigmentosa (RP) including Usher syndrome Type II. This clinical trial heralded vitamin A as the first sight-saving treatment for RP.

Recently Dr Berson and colleagues published results of a 12-year follow-up study evaluating the long term safety of vitamin A in 146 patients with RP who participated in the original vitamin A clinical trial. These patients were otherwise healthy and between the ages of 18 and 54. The daily doses of vitamin A palmitate for this group of patients ranged between 16,349 IU and 24,318 IU.

After 12 years of supplementation, vitamin A blood levels increased by 18%. However, all the patients in this follow-up study had blood levels of vitamin A within the normal range. The patients also showed no clinical symptoms or signs of liver toxicity attributable to vitamin A. The study authors conclude "Prolonged daily consumption of less than 25,000 IU of vitamin A can be considered safe for that time and amount in this age group".

While the long-term safety of vitamin A palmitate in healthy adults is now better established, Dr Berson recommends that before beginning the vitamin A therapy, patients consult their physician to review their medical history and current health status. As a precaution, patients should also have blood tests to measure vitamin A levels and liver function tests prior to beginning the treatment and annually thereafter. If liver function tests reveal any abnormalities, cessation of vitamin A would be expected to prevent any possible complications due to vitamin A toxicity. This long-term safety study, published in the April 1999 American Journal of Clinical Nutrition, now provides patients and doctors with more complete medical information regarding the safety of the vitamin A treatment for RP.

RESEARCHERS STUDY POSSIBLE LINK BETWEEN ESTROGEN AND AMD
By Robyn Miller, President, U.S. FFB

Researchers are currently examining the possibility of a link between estrogen production and the onset of age-related macular degeneration (AMD) in women. Information gathered in recent years indicates there is a higher incidence of AMD in women, and that women who experience an earlier onset of menopause may be at greater risk of developing the disease. Scientists pooled data from three separate epidemiological studies, and concluded the connection may be related to the duration of estrogen production during a woman's lifetime. A woman who experiences an early onset of menopause has fewer years of estrogen production, and the medical community has been investigating whether this puts her at risk for heart disease, osteoporosis, and certain types of cancers. Now, medical researchers will begin to monitor her risk of developing macular degeneration as well.

The U.S. National Institute of Health currently supports a large, three-part study of women's post-menopausal health issues called the Women's Health Initiative (WHI). With the co-operation of more than 100,000 women recruited in July 1998, and 40 clinical centres and communities across the country, the WHI will study these issues using various approaches over the next 8 to 12 years. One of the three parts of the WHI is a controlled clinical trial, using hormone replacement therapy (HRT). More than 50,000 women are enrolled in this clinical trial and they have been separated into two groups. One group receives estrogen supplements and the other receives a placebo, or sugar pill. As part of the clinical trial programme, researchers in the Women's Health Initiative - Sight Exam (WHI-SE) will monitor and compare the development of macular degeneration between the two groups.

Clinical studies, including the WHI-SE, constitute just one of the three parts of the WHI. The other two parts include an observational study of a larger group of women that monitors their health through surveys and questionnaires over a period of years. The third group is a project aimed at public awareness and community involvement in women's health issues.

Although women seem to be at higher risk for developing AMD, HRT is only one of many research areas addressing the causes and risk factors associated with macular degeneration. Further study in all areas will hopefully reveal which factors cause the disease and which may serve to prevent it in both men and women.

NEW CLINICAL TRIAL FOR WET AGE-RELATED MACULAR DEGENERATION (AMD)
By Robyn Miller, President U.S. FFB.

The abnormal blood vessels that form in wet AMD are usually visible during a doctor's examination. However, sometimes they are hidden beneath layers of tissue. When the vessels are hidden the condition is referred to as occult choroidal neovascularization (occult CNV). Because an ophthalmologist must be able to see the blood vessels in order to treat with traditional laser therapy, or photodynamic therapy, patients with occult CNV are not suitable candidates for photodynamic therapy or high-intensity laser treatment.

However, a new, experimental laser treatment for occult CNV is now being evaluated in a large, multi-centre clinical trial. This treatment, called Transpupillary Thermotherapy (TTT), employs a low-powered laser that seems able to treat hidden blood vessel growth. TTT works by slightly raising the temperature of the retina to clot blood within these abnormal blood vessels. The blood clots seal the blood vessels, thus preventing any further leakage and subsequent damage to central vision.

Positive results from a pilot study completed by Dr Elias Reichel at The New England Eye Centre at Tufts University paved the way for this trial, which aims to further test the safety and efficacy of TTT. In the pilot study, 15 participants received the treatment and were then followed by a doctor for an average time of one year. Of the 16 eyes that were treated, 19% experienced a slight improvement in vision over a period of six months to two years. All but a few of the patients, including those that experienced a small decline in vision, actually showed a dramatic reduction in the thickness of the retina - an indication that the growth and leakage of new blood vessels had stopped, at least temporarily.

COPING

DESIGNING YOUR KITCHEN - Part 2
By June Ombler

In the August 2000 Retina Newsletter, Heather Arthur gave people with retinal degenerative disorders many useful things to consider when designing their dream kitchen or renovating the one they have now. No mention of dishwashers was made in this article, so I would like to briefly tell you about a dishwasher that I had a look at recently.

Many RP's say that the two things that most frequently cause them injuries are open dishwasher doors and low occasional tables, as they do not see them. People with RP lose their peripheral vision first and even though they may be able to see quite clearly what is straight ahead of them through their remaining tunnel of vision, things at shin height are invisible. An open dishwasher door is an accident waiting to happen. It happens again and again, even though you know it is a hazard, as another member of the family may forget to close it. RP's also get memory lapses and forget to close the door while going away to answer the phone or front door, etc. and "Ouch!!!!", they've done it again!

Now there is a solution to this problem. It is the Fisher and Paykel Quantum Dishdrawer. Having had a demonstration of the single drawer model, I feel that it can be the solution to the problem of injured shins and pride. Also, it can be used by a totally blind person and those with macular degeneration without difficulty. The only drawback is the price, which is more expensive than most other dishwashers, but if you are building a new home or fully renovating your existing one, the cost can be built into the whole job.

What's different about the Quantum Dishdrawer?

* It slides open like an ordinary kitchen drawer for easier access, improved visibility and more usable space. The inside of the drawer is 40 cm deep, so it fits tall and awkward dishes and saucepans. A single drawer means that you use only 4 and a half litres of water per wash, thus saving half the energy and detergent, so each meal can be taken care of immediately.

* It has easy to use controls. The front panel has only three "one touch" controls which "beep". The secondary controls are concealed inside the front of the drawer. There are five of these which give a"beep" sound when pressed. Once you have selected the programme you want to use, you simply close the drawer and press the Start/Pause button on the front of the machine. This will automatically provide you with the same programme every time unless you change it.

*If you have a large household you may need a double drawer unit in which both drawers can be operated independently of each other, saving water and energy if you only have a small amount to wash. The front of the drawers can be finished to look like wood, laminates or panelling to suit your kitchen finish.

* When open, the Dishdrawer has no sharp edges or corners, as these have been moulded to avoid injury.

* This dishwasher has a flow through detergent dispenser and easy to clean waste filter. Removable wire baskets inside the drawer also make for easy loading and cleaning.

FLASHING LIGHT FOR SAFETY AT NIGHT

As most members are no longer able to drive and many have night blindness, this very small flashing light can be an important safety device for you to wear when jogging, going out alone and having to cross roads or intersections at night.

It is The DX-450 "Safety Flasher" and can be obtained from Dick Smith Electronics outlets. The catalogue number is Y 1061 and the price less than $10.00. You will also have to purchase two triple AAA batteries, which have a usable life of approximately 300 hours. To install the batteries two screws have to be undone and you may need a sighted person's help to do this.

The "Safety Flasher" is red in colour, lightweight, has an adjustable Velcro strap so that it can be worn around the wrist, ankle or upper arm. It can also be clipped on to your belt or hat band. Easy to turn on and off, its bright red flashing light is very visible at night. (Kay McKenzie)

WARNING ABOUT TV MAGNIFIERS

Please be aware that if TV magnifiers are placed in an area that receives direct sunlight it may melt the TV. Heather Arthur, RNZFB TDL Practice Adviser issued this warning after a client had this problem. Susan, who sent this warning to Heather, said that she had recently seen a client who this has happened to and she adds she had brought the TV magnifier into her office and whilst checking her Email the magnifier had caught the light coming through the open blinds and started to catch the carpet on fire!

This warning also applies to any magnifier, including magnifier mirrors. "Sometimes people put their magnifier down on a table or ledge and at that time the sun is nowhere near it, but as the sun moves round later in the day this, too, could be a fire risk", said Heather.

DO YOU NEED HELP OR ADVICE?

The Retina NZ Peer Support programme is free and confidential service, operating nationwide. To make contact, telephone 0800 243 33 33, press 1 for General enquiries and then ask the call centre operator to put you in touch with a Peer Supporter in your area.

DO YOU NEED YOUR NEWSLETTER IN BRAILLE OR IN LARGE PRINT?

We are conducting a survey to see how many members would prefer to read their newsletters in Braille or in large print. To date we have not offered this choice.

If you would like to receive your newsletter in Braille, please remember that you can at present receive it on disk or by email if you have a computer with a speech synthesizer provided you tick either of these boxes on your member renewal form. As it is expensive to get the newsletter published in Braille, please consider the above alternatives first.

We are also thinking of providing the newsletter in large print to those who cannot read it in standard print or on their computer screen. This also costs the Society a little more than sending it out in standard print.

If you would like to receive future copies of the newsletter in Braille or large print, please contact Janet Palmer, National Secretary, Retina NZ Inc., and let her know. Her phone number is (04) 476 7329. You can leave a message on her answer phone but remember to give your name and address with your request. You can also email her on retinanz@ihug.co.nz

SUBSCRIPTIONS BECOME DUE ON 1ST APRIL 2001:

This is an early reminder that your annual subscription becomes due on 1st April 2001. With this newsletter you will find your member renewal form which you can complete and return straight away if you wish, to the Secretary, Retina NZ, P.O. Box 27-177, Wellington.

However, please post date your cheque to 2nd April 2001. This will avoid any confusion with last year's accounts.

Auckland Genetic Hotline (Ask for Dr Julie McGaughran) 0800 476 123

Wellington Genetic Hotline 0508 364 436
Christchurch Genetic Hotline 0508 364 436
(South Island callers ask for Dr Caroline Lintott)

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 11 MAY 2001.