V I C
Retina Australia Victoria
A U S T R A L I A
Registration # A0002991W
SUMMER EDITION DECEMBER 2008
R O S S H O U S E , 4 TH F L O O R 247 - 251 FLINDERS LANE
M E L B OU RN E VIC 3000 PHONE (03)9650 5088
R E T I N A
FAX (03) 9639 0979
Web site: www.retinavic.org.au
FROM THE PRESIDENT 2
S UMMER NEWS –
BUMPER FINAL ISSUE FOR 2008!
CARS OF THE WORLD 5
FEATURES: New Feature Articles
Flying Blind 6
Youngest Patient to Have 8
New Eye Surgery Retina Aus (Vic) News Update
RESEARCH UPDATE: Lots on Research Developments
Stem Cells Inc Announces 9
Neural Stem Cell Development 11 Question Time
Gene Therapy Restores Vision in 12
Mice with Retinal Degeneration Cars of the World Report
Report on Retina International 13
Conference 2008, Helsinki
FFB Position Paper: Stargardt 18
Disease and Vitamin A
QUESTION TIME 20
SNOWY OWLS, CHRISTMAS CARDS 21
and LAST WORD Best Wishes for 2009!
PP: 33 1088/00015
From the President
We are coming to the end of a very busy year. At our Annual General Meeting held on
Saturday 11 October, a new Board was elected for the forthcoming year. This Board, whose
membership is listed below, is a mix of new and well established members and I would like to
take this opportunity to thank them for volunteering their time to increase awareness of
inherited retinal eye diseases within the broader community and to expand our support services
to members. As we are allowed eight members on our Board, we still have one vacancy, hence
if you are interested in volunteering for the Board, please do not hesitate to contact me at the
office to discuss your interest.
President Leighton Boyd
Vice-President Rick Clarke
Secretary Rosemary Boyd
Treasurer Graham Owen
Board Member Charles Rogers
Board Member Justin Marshall
Board Member Helen Furmanczyk
A very big thank you to Charles Rogers who has so capably carried out the role of President
for the previous three years. He has organised the “Cars of the World” event alongside his
other responsibilities and consequently has assisted in raising a great deal of money for
research. Charles was also instrumental in the establishment of our link with the fundraising
group behind “Magic/Movie Mania” which raises funds to send disabled children to a magic
show, or to the movies, and through this fundraising also supports Retina Australia Victoria.
Charles will remain on the Board, continuing as the event manager for “Cars of the World”, and
contributing to the work of the Board as we work together in the pursuit of the Retina Australia
Also thank you to Jane Evans and Fiona McNabb who recently retired from the Board. Both of
these ladies have no direct connection to our members, or members of the wider community
who suffer from retinal disease, but they gave freely of their time to assist the Board in the
financial and general management for an association such as our not-for-profit organisation.
Jane was also responsible for the successful implementation and analysis of our member
I would also like to thank David Foran who has been our representative on Vision 2020 for a
number of years for his work as a delegate to that organisation. It has been extremely helpful
for Retina Australia (Vic) to have someone who understands vision loss, and the work of our
organisation, representing us in this very influential organisation. Unfortunately the annual
membership costs have risen excessively and the Board has made the financial decision to
relinquish our membership. We will be indirectly involved because our national organisation,
Retina Australia, will continue their membership and share the knowledge obtained across the
state groups. Our delegate will be the national president Graeme Banks.
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Bendigo Support Group
Congratulations to Mark Boyd and his Bendigo and District Support Group. They have
recently had their twelfth anniversary and Christmas Luncheon. This group meets five times per
year, usually over a meal, and discusses items of mutual interest in a very supportive and
sociable atmosphere. Well done!
If any member would like to start up their own group, particularly in a country or outer
suburban area, please do not hesitate to contact the office and we may be able to assist you in
locating fellow members who live near by, or who have similar interests. We can help with
building the foundations for such groups and assist with the management and organisation of
them. Let us know if you are interested.
We are about to embark on a new Telelink service which will be auspiced by Vision Australia.
To this end we are seeking members interested in participating in such a telephone link,
commencing in February or March 2009. This will involve a one hour per week telephone link
up, for an initial trial period of ten weeks, for a small group of interested people chatting to
others affected by Retinal Dystrophies, about common issues, listening to a guest presenter,
having a discussion on a set topic or just having a general chit chat. This is a great opportunity
for members who live in remote or country areas, or who are confined in their own homes, to
communicate regularly with others. We are currently seeking about 8-10 people to participate
in this pilot project so if you are interested please contact Mary at our office and she will be
only too pleased to take your details. If this pilot Telelink is successful, we have the opportunity
to expand this service, so the more names we have of interested members, the more likely we
will be to offer links via the telephone to others.
We are currently in the process of modernising and updating our website with up to date
information. There have been various attempts at trying to keep this website updated and we
have reached the stage where the entire site needed to be changed. Thanks to the many hours of
hard work by one of our volunteers Judi Potts, the new accessible website is beginning to take
shape. Have a look for yourself, and watch the progress being made. For those of you who are
interested, log on to www.retinavic.org.au . If you have any suggestions for improvements,
additional information, etc, please do not hesitate to contact the office and let us know.
New Research Project
I am pleased to advise that at a teleconference held Tuesday 26 November, the Board of Retina
Australia accepted the proposal from the Sir Charles Gairdner Hospital, Perth, Department of
Medical Technology and Physics, for the establishment of an Australian inherited retinal
disease family testing program and DNA register, to be known as the IRDR (Inherited Retinal
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The aim of this project is to identify all families in Australia affected by an Inherited Retinal
Disease, and to make available to approved researchers DNA and accompanying non-
identifying information obtained from appropriate members of those families, in order to guide
future therapeutic research and clinical trials in Australia. Participants will be required to
donate either a blood (preferred) sample or saliva from which the DNA will be collected and
stored in the WA DNA Bank in designated secure facilities. DNA will be collected from both
affected and unaffected individuals within a family.
The project will commence on 1 April 2009 and we will be seeking volunteers from members
who wish to participate in this project commencing March 2009. Further information will be
available from the Office and in the next edition of the Achiever. This is the most significant
opportunity for members to participate in valid, and relevant, research since the commencement
of our organisation in 1979. So please be involved, stay tuned for the information which will
be forthcoming in the new year.
As you are no doubt aware, the Achiever is printed in a variety of formats which include large
print, email and up until this edition, audio tape. Due to changes in technologies we will be
moving from audio tapes to the use of audio CDs from this edition onwards.
Consequently we need to send a very big thankyou to two of our members for their outstanding
contribution, given unstintingly for so many years, to ensure that the audio tapes were delivered
to members who requested receiving their copy of the Achiever in this format.
Jocelyn Davies, a former Council member, read the newsletter on to audio tape for us, thereby
setting up the master copy for each edition. She was ably assisted by our life member Carmel
Georgalas who arranged for the duplication of the tapes and the mailing out of these to relevant
members. Thanks Jocelyn and Carmel for a voluntary job well done.
Shopping Centre Stall
In September, a community stall was held at Airport
West Shopping Centre to raise public awareness
about retinal dystrophies and Retina Australia (Vic),
and to raise funds by selling our merchandise. A
similar stall is planned for January at Watergardens
Shopping Centre in Sydenham. Anyone interested in
helping out at Retina stalls which may be planned for
the future are encouraged to register their interest.
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On Sunday 23 November 2008 the
fifth Cars of the World event was held
in aid of Retina Australia Victoria. The
event is essentially a car show that
brings together car enthusiasts and the
wider public to admire cars in a
picturesque setting, and most
importantly along the way raising much
needed awareness and funds for our
The 2008 event was anticipated to
eclipse all previous events with record
numbers all round. However, the
inclement weather that crossed greater
Melbourne on the Saturday and
Sunday morning halted the plans of
numerous car owners, and thus
attendance numbers were down based
on predictions. Fine weather cast itself
over the beautiful Morning Star Estate
as the show went on.
In all, 200 cars entered the show
covering from the 1920‟s to the
present day. An added feature to the
2008 event was the opening of the
Auto Art Exhibition. Of note in the
Exhibition was blind artist Madeline
Popper (who has AMD) and showed 4
paintings at the event. We as an
organisation also took the opportunity
of unveiling our new Retina Vic
marquee. This marquee has given
Retina Vic a greater presence at the
event and improved the
professionalism of our service.
only to catch up with Retina friends,
We encourage all members, where but to also see first hand one of Retina
From the President
able to attend the 2009 show, to be
held on Sunday 22 November at
Vic‟s initiatives at work in the
Mount Eliza‟s Morning Star Estate, not Charles Rogers
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Jim O'Neill asked for help after he was went blind 40 minutes into a flight
from Scotland to southeastern England. The BBC reported that
O'Neill, flying a small Cessna aircraft, lost his sight 5,500 feet in the
"It was terrifying," O'Neill said. "Suddenly, I couldn't see the dials in
front of me. It was just a blur. I was helpless," O'Neill said from hospital.
"I owe my life -- and the lives those of the dozens of people I could have crash-landed
on -- to the RAF.
The air force said in a news release that O'Neill initially believed he'd
been "dazzled" by bright sunlight, and made an emergency call for help. He
then realized that something more serious was happening, and said, "I want
to land, ASAP."
RAF Wing Commander Paul Gerrard was just finishing a training flight nearby and was
drafted in to help the stricken pilot.
Gerrard located the plane, began flying close to it and became O‟Neill‟s 'eyes' by
radioing directions to bring him down to safety.
"For me, I was just glad to help a fellow aviator in distress," he said.
"Landing an aircraft literally blind needs someone to be right there to say
'Left a bit, right a bit, stop, down,'" Gerrard said. "On the crucial final
approach, even with radar assistance, you need to take over visually.
That's when having a fellow pilot there was so important.
O'Neill's son, Douglas, said his father is an experienced pilot who has
flown for nearly two decades. The 65-year-old is recovering in hospital
where he is beginning to regain his sight.
"The doctors have confirmed that he suffered a stroke from a blood clot, but
he doesn't seem to have suffered any other ill-effects apart from losing his
sight," Douglas O'Neill said. "He says he went blind very suddenly and
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then, once he'd got over the shock, was able to distinguish a bit of
darkness and light."
In a recording posted to the BBC's news web site, Gerrard gives O'Neill
instructions - "a gentle right hand turn, please," is called for at one
point - and he can be heard apologizing.
"You could hear the apprehension in his voice over the radio and the
frustration he was experiencing," said radar controller Richard Eggleton.
"I kept saying 'Are you visual?' and he would reply 'No sir, negative, I'm
sorry sir.' He kept on apologizing.
With Gerrard talking him down, O'Neill's plane hit the runway and bounced up again,
the RAF said. It did the same on the second touchdown. On the
third, O'Neill was able to keep his plane on the ground.
"It's one of those things you might hear about happening in some sort of
all-action film but it's hard to believe what they did," Douglas O'Neill
said of the RAF. "They were just tremendous."
"It is a miracle Jim is here today," his wife Eileen, 63, said. "The RAF
O'Neill's son, Douglas, 37, managing director of his father's conference and events
management company, said: "If you were walking down the road or driving a car it
would be bad enough, but at 15,000 feet it's a whole different ball game. He thought 'if
I don't land the plane I will be dead' but he showed incredible determination.
"The RAF did a wonderful job to get his wheels down on the ground. I very much doubt
whether anyone other than the RAF would have been able to handle this situation."
O'Neill has started to regain his sight in one eye.
Jennifer Quinn, Associated Press, 8 November, 2008
Will Trump, Vancouver Sun, 8 November, 2008
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Youngest Patient to Have New Eye Surgery
In September, an 8-year-old from Saratoga County, Corey Haas, became the youngest
person in the world, and the second American, to undergo the groundbreaking surgical
procedure, which uses gene therapy to treat a rare, degenerative eye disease called
Leber's Congenital Amaurosis. So far, 10 people have received the surgery, seven at
the Children's Hospital of Philadelphia and three at Moorfields Eye Hospital in London.
Corey suffers from night blindness, is considered legally blind, and is also extremely
Before the experimental surgery, Corey‟s schoolwork had always been printed on 11-
by-17 inch sheets of paper, in large, easy-to-read type. His books were in extra-large
print. But after the surgery, the school began printing his classwork on regular-sized
pieces of paper and he began using regular-sized books.
His vision is still far from perfect, and improvement is expected to be gradual. But he
and his parents have already noticed big changes.
At school, Corey still uses a special "clarity" machine, a 12-inch computer monitor
hooked up to a camera, to magnify and brighten the writing on the chalkboard. He
reads worksheets with the aid of a lamp with a 100-watt bulb and a magnifying glass.
His equipment occupies a second desk. But it's getting easier for him to see faces. The
pupils of his eyes, in the past always fully dilated, began changing shape after the
surgery, becoming smaller in bright sunlight.
The surgery is yet to be approved by the Food and Drug Administration, but Corey's
parents didn't hesitate. Because Leber's is degenerative, Corey's vision was expected
to worsen over time, with or without the surgery.
Leber's, which prevents the retina from processing light, is caused by recessive genes,
which means both parents carry the genes and pass them on to their child.
The experimental surgery Corey received was developed by a husband-and-wife
medical team, eye surgeon Dr. Al Maguire and gene therapy expert Dr. Jean Bennett,
at the Children's Hospital of Philadelphia. The couple figured out how to insert a virus
carrying a healthy copy of the defective gene into the retina using a tiny needle, about
the size of two eyelashes. During surgery, billions of genetically modified viruses were
delivered to Corey's retina; these viruses were able to produce an enzyme Corey's eye
was incapable of making on its own.
In interviews, researchers have said they hope the gene therapy technique could be
used to treat a wider variety of visual disorders, such as macular degeneration.
Reference: Sara Foss, Schenectady Gazette, Schenectady, NY, USA, 2 November 2008
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StemCells, Inc. Announces Preclinical Results Showing its
Proprietary Human Neural Stem Cells Can Prevent Vision Loss
StemCells, Inc. has reported that its proprietary HuCNS-SC(R) product candidate
(purified human neural stem cells), when transplanted into a well-established animal
model, can protect the retina from progressive degeneration.
This promising study was conducted by Dr. Raymond Lund, a researcher and
professor at the Casey Eye Institute at Oregon Health & Science University (OHSU)
and his research team.
Dr. Lund presented the study results at a seminar sponsored by the Foundation
Fighting Blindness at the University of California on 1 November.
"This study confirms the results of previously published academic studies evaluating
neural stem cell transplantation into the retina and provides us with the rationale to
pursue clinical testing of HuCNS-SC cells for retinal disorders," said Stephen Huhn,
MD, FACS, FAAP, Vice President and Head of the CNS Program at StemCells, Inc.
"We are already conducting additional preclinical studies and a pre-IND meeting has
been scheduled with the FDA for December of this year to determine the pathway to a
successful IND filing."
In this preclinical study, Dr. Lund and his co-investigator at OHSU, Dr. Peter Francis,
transplanted HuCNS-SC cells into the Royal College of Surgeons (RCS) rat, a well
established animal model of retinal degeneration. In the RCS model, a genetic
mutation causes dysfunction of the retinal pigmented cells. Dysfunction in these cells,
whose normal function is to support photoreceptors in the eye, causes progressive
loss of the photoreceptors and degeneration of the retina, and ultimately, loss of visual
Photoreceptor loss in the RCS rat begins as early as three weeks of age and by 24
weeks all photoreceptors are typically lost. In the study, the researchers transplanted
HuCNS-SC cells into one eye of 21-day-old RCS rats while keeping the opposite eye
as the control.
Animals were evaluated starting at day 40 (19 days post transplant) and then at routine
intervals up to 150 days post transplant. The evaluations showed that the HuCNS-SC
cells survived the transplants and engrafted, and the eyes transplanted with the cells
showed preservation of the photoreceptors and stabilization of visual function.
The HuCNS-SC cell has proven to have very robust survival, preserving vision in our
rat model at time points beyond six months," commented Dr. Lund. "These data are
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very encouraging and suggest cell-based therapies for retinal degeneration can be a
viable treatment approach."
Dr. Francis, a retina specialist and researcher, added, "I am excited by our burgeoning
collaboration with StemCells Inc. The results of the early preclinical studies support the
potential for these cells to treat retinal degenerative disease. I am especially excited by
the fact that the cell is currently being tested in a clinical trial for Batten disease, a
disorder of the central nervous system, which should make the transition from the
laboratory to clinical use in retinal disease that much easier."
Throughout his career, Dr. Lund's research has centered on the response of the
central nervous system to injury and mechanisms of rescue and repair. Focusing on
the retina and its connections with the brain, he pioneered eye transplants in mammals
in the late 1970s. Currently, he is investigating the use of cell-based therapies for
photoreceptor degeneration in animal models of human disease.
About HuCNS-SC Cells
StemCells' lead product candidate, HuCNS-SC cells, is a purified composition of
normal human neural stem cells that are expanded and stored as banks of cells.
The Company's preclinical research has shown that HuCNS-SC cells can be directly
transplanted; they engraft, migrate, differentiate into neurons and glial cells; and they
survive for as long as one year with no sign of tumor formation or adverse effects.
These findings show that HuCNS-SC cells, when transplanted, act like normal stem
cells, suggesting the possibility of a continual replenishment of normal human neural
Source: MarketWatch, 30 October 2008, USA
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Press Release - A Key Mechanism Regulating Neural
Stem Cell Development is Uncovered
A research team at the Institut de Recherches Cliniques de Montreal (IRCM), funded
by the Foundation Fighting Blindness - Canada and the Canadian Institutes of Health
Research (CIHR), discovered a novel mechanism that regulates how neural stem cells
of the retina generate the appropriate cell type at the right time during normal
development. These findings, published today in the renowned journal Neuron, could
influence the development of future cell replacement therapies for genetic eye
diseases that cause blindness.
In their report, the scientists show that a gene called Ikaros is expressed in the most
immature retinal stem cells in the mouse, which are "competent" to generate all seven
different cell types that compose the retina. But this gene is not expressed in the
"older" stem cells, which are more restricted in their differentiation potential and
produce only the late-born neurons. "By studying the retina of a mouse in which the
Ikaros gene was inactivated, we found that the generation of early-born retinal cell
types was impaired, whereas the generation of the late-born retinal cell types was not
affected," explained Dr. Michel Cayouette who led the study.
In contrast, forcing the expression of Ikaros in older retinal stem cells, which have
normally turned off its expression, was sufficient to give back the competence to these
cells to generate early-born neurons. Overall, these results indicate that the expression
of Ikaros in retinal stem cells is both necessary and sufficient to confer the competence
to generate early-born retinal neurons.
The identification of adult retinal stem cells in recent years has opened up the
possibility that such cells could one day be used to replace damaged or lost cells in
various retinal diseases such as glaucoma, macular degeneration or retinitis
pigmentosa. For such approaches to be effective, however, it is crucial that stem cells
generate only the appropriate cell type for a particular condition.
This study suggests that it may be possible to manipulate the competence of retinal
stem cells so that they only generate retinal cells associated to a particular temporal
stage. "For example”, added Dr. Cayouette, “inactivating Ikaros could favour the
production of later-born neurons such as photoreceptors, which are lost progressively
in retinal degenerative diseases." Future studies will be required to assess the
usefulness of this approach for potential cell replacement therapies.
Reference: Jimmy Elliott, Christine Jolicoeur, Vasanth Ramamurthy, and Michel Cayouette. (2008)
Ikaros Confers Early Temporal Competence to Mouse Retinal Progenitor Cells.
Neuron Volume 60 October 9, 2008, 26-39.
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Gene Therapy Restores Vision To Mice With Retinal Degeneration
Massachusetts General Hospital (MGH) researchers have used gene therapy to
restore useful vision to mice with degeneration of the light-sensing retinal rods and
cones, a common cause of human blindness.
Their report, appearing in the Oct. 14 Proceedings of the National Academy of
Sciences, describes the effects of broadly expressing a light-sensitive protein in other
neuronal cells found throughout the retina.
"This is a proof of principle that someday we may be able to repair blindness in people
with conditions like retinitis pigmentosa and macular degeneration," says Richard
Masland, PhD, director of the Cellular Neurobiology Laboratory in the MGH
Department of Neurosurgery. "There are several limitations we need to overcome
before we can begin clinical trials, but I'm optimistic that this work may someday make
a big difference for people who otherwise would have no vision at all."
The study was designed to investigate the effect of expressing the light-sensitive
protein melanopsin in retinal ganglion cells. These specialized neurons receive light
signals from the rods and cones and carry those signals into the brain via the optic
nerve, which is formed from the cells' axons. Melanopsin is usually produced in a
subset of cells that are involved with establishing circadian rhythms but not with
vision. The MGH team used the standard viral vector adeno-associated virus to deliver
the gene encoding melanopsin throughout the retinas of mice whose rod and cone
photoreceptors had degenerated from lack of a crucial protein.
Four weeks after delivery of the gene, melanopsin - normally produced in 1 percent of
retinal ganglion cells - was found in about 10 percent of ganglion cells in the treated
eyes but not in eyes that received a sham injection. Many of the melanopsin-
expressing cells were structurally different from those that typically produce the
protein, implying that it was being expressed in a broader range of retinal ganglion
cells. Electrophysiological examination of the melanopsin-expressing cells revealed
that all responded to light, although the neuronal signal was delayed and persisted
after the light signal had stopped, which is typical for a melanopsin-mediated signal.
Two behavioural tests verified that the treated mice - which otherwise would have been
essentially blind - had enough vision to find a darkened refuge in an otherwise
brightly-lit area and to successfully learn that a light indicated a safe platform to which
they could swim.
“The same level of melanopsin expression in a human retina might allow someone
who otherwise would be totally blind to read newspaper headlines, but the slowness of
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the response would be a problem," Masland says. He notes that another group's gene
therapy experiments published earlier this year were similar but used a protein that
requires a level of light comparable to looking directly into a bright sky for a whole day,
which would eventually damage the retina. "Before planning clinical trials, we need to
develop a more sensitive version of the other protein, channelrhodopsin-2, or a faster-
responding melanopsin, which we are working on."
Masland is the Charles A. Pappas Professor of Neuroscience at Harvard Medical
School. He and the MGH have applied for a patent related to the work of this study,
which was supported by grants from the National Institutes of Health and Research to
Prevent Blindness. The lead author of the paper is Bin Lin, PhD, MGH Cellular
Additional co-authors are Amane Koizumi, MD, formerly of MGH and now at the
National Institute for Physiological Science in Japan; and Nobushige Tanaka, MD, and
Satchidananda Panda, PhD, of the Salk Institute for Biological Studies.
Adapted from materials provided by Massachusetts General Hospital, via EurekAlert!
Science Daily, 16 October 2008, USA.
Retina International Conference July 2008:
In the last edition of The Achiever we included a Summary Report on the Retina
International Conference in Helsinki, prepared by Graeme Banks, President of Retina
Australia. In this edition, a more detailed report is provided, compliments of Fraser
Alexander as published in the Retina New Zealand newsletter.
Professor Ali‟s presentation on the replacement of the defective RPE65 gene that
causes Lebers Congenital Amaurosis was the highlight of a great conference-a
conference remarkable in being the first congress dominated by human clinical trials
as opposed to previous conferences dominated by basic science and animal studies.
Professor Ali demonstrated with an exciting video the remarkable improvement in night
vision achieved by a patient within six months of receiving the gene therapy. This
success was the result of 15 years of research. Proof of principle that the replacement
therapy worked in animal models was already established in 1999. The planning of
the trials started in 2004 and involved a significant group of researchers from across
many clinical fields. The focus thus far has been to determine safety factors and
further trials will involve higher doses and younger patients in the hope the therapeutic
effect will be greater. The findings of this trial will fast-track other gene replacement
trials. Professor Ali said that the trial had demonstrated that we can deliver genes
safely to the retina but significant levels of investment are still needed to move the
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Professor Jerry Chader stressed the estimation that only half of the genes for RP have
been identified and probably most of the genes for AMD. There were five important
areas of research where clinical trials are in progress or are being planned:
1. Gene Therapy-3 clinical trials for RPE65 in LCA by Ali, Bennet and Jacobson were
underway and reports by Ali and Bennet showed great early results.
2. Gene therapy trials to deliver growth factors for wet AMD were also underway. Gene
therapy trials for Stargardts and Ushers Syndrome are in the planning stage.
3. Pharmaceutical intervention – encapsulated cell technology: to deliver growth
factors for dry AMD and RP were in clinical trials.
4. Nutritional Studies-the AREDS study had shown the importance of anti-oxidants in
AMD and the AREDS2 trial is testing the effectiveness of Lutein and Zeaxanthin in
AMD. The patient trial to test anti-oxidants in RP was underway.
5. Artificial Retina-many different centres were investigating this and results of 2 trials
were both showing great promise.
Photoreceptor cell transplantation trials have not been that successful. Stem cell
research offers a great hope for the future but some challenges remain. Both of these
areas and the artificial retina would hopefully one day replace dead or non-functioning
Dr Weng Tao presented the results of the Phase 2 and 3 studies of neurotrophic
growth factors (RP and dry AMD). Therapy is not gene dependant and some patients
had experienced a significant improvement in visual acuity level.
Dr John Flannery presented a ground breaking technique for possibly restoring vision
in advanced retinal degenerations. His approach involves biochemical manipulation of
retinal ganglion cells to restore light sensitivity. The identical cells are the ones being
used in the prosthetic retinal implant research projects. Dr Flannery‟s research is a
very promising avenue of treatment in the advanced stages of retinal degeneration.
Two different projects to develop an artificial retinal implant were updated at Helsinki.
Professor Eberhart Zrenner from the world famous team in Tubingen, Germany,
presented results of his sub-retinal chip. The chip is stimulated in various patterns and
patients could distinguish horizontal lines from vertical lines and their positions. They
could also detect dot alignment and direction of movement. With the correct stimulation
patients could also find a white plate on a black background.
Professor Mark Humayun explained the epi-retinal prosthesis. The project is called
Second Sight and the implants were tested on 4 patients blind from end stage retinal
degeneration. They were assessed in 4 different tasks and scored significantly better
than chance in 83% of the tests. They had to locate and count objects, differentiate
THE ACHIEVER P a g e 1 4 RETINA AUSTRALIA (VIC) INC
between 3 objects, determine the orientation of the capital L, and judge the direction of
a moving object. His conclusion was that using the device blind subjects can
differentiate and localize objects in their environment.
Professor Theo Van Veen gave a summation to date on the effect of anti-oxidants.
Studies in 9 different mouse models of retinal degeneration have shown oxidative
damage in the photoreceptors that is probably due to the hyper-oxic environment
created by the progression of the disease. The two studies in animal models showed
that the use of a combination of high levels of anti-oxidants delayed photoreceptor cell
death. Ophthalmologists have generally been reluctant to advise RD patients to use
these anti-oxidants due to the lack of a patient trial. The results of a patient trial in
Spain into the effect of these anti-oxidants are expected by the end of 2008. The
Retina International Scientific and Medical Advisory Board issued the following
statement on the use of anti-oxidants for RP: “independent evidence from well
respected laboratories agrees that combinations of antioxidant supplements are
successful in slowing retinal degeneration in RD animal models. Positive effects in all
these animal models may indicate that such treatment could be effective in most or all
forms of RP and allied diseases irrespective of molecular diagnosis.”
Safety seems assured from the animal testing done to date and from the fact that the
supplements used are known to be well tolerated in humans and are not controlled
substances. The control of risk factors for AMD such as blood pressure, obesity,
smoking, exposure to sunlight and nutrition were also highlighted. Genetic counselling
and the importance of patient registries were the focus of numerous papers.
Professor Joe Hollyfield‟s success in the development of a mouse model for MD was a
most valuable new development reported in Finland.
Abstracts of Papers Presented:
Clinical Diagnosis of Retinal Dystrophies and its Value for the Swedish RP
Registry: Professor Sten Andreasson
The Swedish RP registry is linked to the Department of Ophthalmology at the
University of Lund. It comprises over 2700 patients including pedigrees from patients
examined at the unit in Lund with electrophysiology and a thorough ophthalmological
investigation. As the Committee of Ethics also has approved obtaining DNA samples
in a BioBank numerous molecular studies have been completed and the gene defects
in more than 250 families with different mutations in 30 genes have been identified.
Full field electroretinography is the method of choice for objective evaluation of the
total retinal function, and has been used widely in experimental and clinical research
for characterization of retinal degenerations. During recent years new
electrophysiological techniques have enhanced our possibilities to better investigate
and understand the function in separate areas of the retina and the visual pathway.
THE ACHIEVER P a g e 1 5 RETINA AUSTRALIA (VIC) INC
The Department of Ophthalmology in Lund was the first clinical unit in Scandinavia to
use multifocal ERG for further studies of localized dysfunction in the retina. A further
development of multifocal ERG is multifocal VEP which reflects the cortical response
to a localized stimulation of the eye. Multifocal VEP continuously improves and seems
to be of most value for an objective way to further investigate the visual pathway.
Recent development of clinical electrophysiology and molecular genetics has led to a
radical improvement in understanding etiology and pathophysiology of hereditary
Is It Possible To Avoid Age-Related Macular Degeneration? Professor Lotta
Salminen, University of Tampere, Finland
Over the past 40 years epidemiological studies have illuminated the incidence,
prevalence and exposure of AMD within various populations and confirmed hypothesis
on etiology. All studies show the increased risk of the disease with increasing age.
People aged 90 years and above have an 8 to 10 fold increased risk of developing
AMD compared to people aged 50 years. In addition to the age risk of developing
AMD „inborn‟ risks are a family history of AMD, light skin, and female gender.
However, studies on the distribution of AMD within the population have shown that
there are several external and behavioural risk factors of AMD. Social class is
reported to have an inverse risk of AMD. Cardiovascular disease, hypertension,
carotid atherosclerosis, high intake of saturated fat and cholesterol, smoking and
excessive alcohol consumption have all been shown to be associated with increased
risk of AMD.
There are several studies reporting of lifetime light exposure as a risk factor of AMD.
The oxidative stress throughout life due to combined exposures to light and oxygen of
photoreceptors in the retina and the generation of free radicals may be an essential
mechanism for AMD. It is thought that AMD might occur in individuals that have
received excess light stimulation, particularly at vulnerable times, or who do not have
enough protective antioxidant micronutrients in the serum or retina. Biomarkers of
oxidative damage have been demonstrated in post-mortem eyes from patients with
Consequently, the control and treatment of the external and behavioural risk factors of
AMD like high blood pressure, excessive weight and obesity, smoking, excessive
sunlight exposure may proactively reduce the risk of AMD. The impact of nutrition on
manifestation and progression of AMD has become an important controversial topic
within recent years. The results of the only prospective, controlled clinical trial
providing proven benefit of antioxidant supplementation for AMD (AREDS) and the role
of lutein and zeaxanthin and various fatty acids were discussed during the
THE ACHIEVER P a g e 1 6 RETINA AUSTRALIA (VIC) INC
To avoid AMD further research on the interactions between genes and environment is
likely to be the most productive way together with a balanced, low-fat diet with vitamin
supplementation and cessation of smoking.
Stem Cells: Renewed Vision by Maria-Thereza Perez, Associate Professor,
Lund University, University of Copenhagen
Stem cells and progenitor cells can be programmed to generate multiple cell types.
Several reports suggest also that cells with regenerative potential may be isolated not
only from the inner cell mass of blastocyts (embryonic stem cells), but also from adult
tissues (adult or somatic stem cells). Successful approaches based on the use of such
cells would thus offer enormous possibilities to treat a vast range of diseases.
In the area of retinal degenerations however, the work is not quite ready to be tested
on human patients. Experimental studies have shown that stem cells and some ocular
progenitor cells are capable of differentiating into specific retinal cell types both in vitro
and following transplantation. However, a number of technical obstacles need still to
be resolved before stem cells can be safely used for therapeutic purposes. In vitro
manipulations are necessary in order to derive and maintain stem cells and involve at
present the use of protocols that limit the clinical use of these cells (e.g. contamination
with animal pathogens). The potential uncontrolled growth of cells after transplantation
needs also to be carefully assessed.
Another approach involves promoting an in situ expansion of the small existing pool of
endogenous retinal stem or progenitor cells. It would not only eliminate the need to
harvest and transplant the cells, but also circumvent the immunological challenges
associated with transplantation. This approach requires a better understanding of the
mechanisms controlling normal cell development and thereby of exogenous factors
that can be used to boost neurogenesis, since the existing pools appear unable to
contribute spontaneously to any degree of repair. Whether or not application of
exogenous factors will also be able to drive the migration of these cells to affected
areas and to promote their functional integration with the rest of the tissue also
Nevertheless, despite practical and ethical issues and the fact that many optimistic
reports have been refuted, the stem cell field is evolving rapidly, engaging social and
technical interests. It has certainly challenged the old dogmas stating that
regeneration and repair of the human CNS are not viable. Efforts need to be
intensified in order to improve the prospects of developing effective therapies based on
the use of stem and progenitor cells, but avoiding at the same time uncritical
enthusiasm and views which will ultimately delay the advancement of this promising
THE ACHIEVER P a g e 1 7 RETINA AUSTRALIA (VIC) INC
People with Recessive Stargardt Disease or Cone-Rod Dystrophy Should
Not Exceed the Recommended Daily Allowance for Vitamin A
After extensive deliberation and discussion of existing and recent new data, members
of the Foundation Fighting Blindness's Scientific Advisory Board and outside experts
recommend that people with recessive Stargardt disease or cone-rod dystrophy, most
of which are caused by mutations in the ABCA4 gene, should avoid intake of vitamin A
beyond the recommended daily allowance (RDA).
The recommendation comes as a result of research indicating that excess
consumption of vitamin A can potentially accelerate vision loss and retinal
degeneration in people with recessive Stargardt disease, cone-rod dystrophy,
and other retinal conditions caused by variations in the ABCA4 gene. As you
will read in the official position paper if you do not know the identity of
the gene causing your Stargardt disease or cone-rod dystrophy, please
consult with your ophthalmologist and/or genetic counselor about obtaining
The Foundation Fighting Blindness recommends that:
Based primarily upon a recent animal study, individuals of any age with autosomal
recessive Stargardt disease or cone-rod dystrophy caused by ABCA4 genemutations
should be aware of the possible potential risk for further damaging their vision by
taking vitamin A supplements (for example, Vitamin A palmitate or other dietary
supplements that contain vitamin A) beyond the daily recommended dietary allowance
of approximately 3,000 I.U./day for men and 2,333 I.U./day for women, as developed
by the Food and Nutrition Board under the aegis of the Institute of Medicine.
While there are not definitive data from humans, based on animal studies,
individuals with the ABCA4 genetic subtypes of autosomal recessive Stargardt
disease or cone-rod dystrophy caused by a mutation in the ABCA4 gene should
also consider avoiding excessive sunlight exposure.
Individuals who have Stargardt disease or cone-rod dystrophy, but do not
know their gene mutation, should consider genetic testing to determine
whether they have a mutation in the ABCA4 gene. Information is available
from Foundation Fighting Blindness website on how to obtain genetic testing.
Before making any changes to diet or lifestyle, individuals with autosomal
recessive Stargardt disease or cone rod dystrophy caused by a mutation in
the ABCA4 gene, or those individuals who do not know the genetic cause of their
retinal degeneration should consult with their personal physician and
ophthalmologist regarding these recommendations and possible genetic testing.
THE ACHIEVER P a g e 1 8 RETINA AUSTRALIA (VIC) INC
Our understanding of inherited retinal degenerative diseases has dramatically
increased with the identification of genes involved in these diseases and with the
production of relevant animal models to understand disease progression.
The autosomal recessively transmitted form of Stargardt disease, an early-onset form
of macular degeneration, results from mutations in a gene called ABCA4. In
individuals with autosomal recessive or isolated forms of Stargardt disease due to
mutations in ABCA4, the retinal rod and cone photoreceptor cells of affected
individuals cannot efficiently perform their role in a process called the visual cycle.
Specifically, the mutant ABCA4 gene does not function in the part of the visual cycle
where vitamin A is shuttled back and forth between the photoreceptor cells and a
neighboring cell layer called the retinal pigment epithelium (RPE). Consequently, within
the RPE, there is the buildup of a toxic vitamin A derivative, called A2E, which collects
as yellow-white deposits called lipofuscin. Some individuals affected by cone-rod
dystrophy can also have mutations in the ABCA4 gene and can also exhibit abnormally
high lipofuscin accumulation in the RPE.
While direct clinical studies on the use of Vitamin A in individuals with Stargardt
disease or cone-rod dystrophy due to mutations in ABCA4 are not available,
information from animal studies strongly suggests that taking excessive amounts of
vitamin A could promote the additional accumulation of lipofuscin within the RPE cells.
Since lipofuscin contains a toxin (A2E), this could lead to a loss of photoreceptor cells
and accelerated visual loss. It is currently not entirely certain if this additional
accumulation of lipofuscin would lead to a more rapid rate of retinal degeneration in
patients with ABCA4 mutations. However, based on the best information that is
currently available, we recommend avoiding excess vitamin A intake for those persons.
Refraining from excessive use beyond a daily-recommended allowance would be
prudent. Again, consult you personal physician before making any changes to your
lifestyle or diet.
Based again on animal studies, it is also advisable for patients with ABCA4 gene
mutations to consider avoiding excess sunlight exposure to the retina (for
example, being outside on a very sunny day without sunglasses), which could
potentially accelerate the loss of both RPE and photoreceptor cells. This situation
could be helped by using a hat with a large brim and appropriate sunglasses that filter
out blue and ultraviolet light, which are potentially the most harmful to the retina.
To determine if this recommendation applies to you, individuals who have Stargardt
disease or cone-rod dystrophy who do not already know the genetic reason for their
retinal degeneration may want to consider being genetically tested to determine
whether they have a mutation in the ABCA4 gene. There are currently CLIA-approved
(federally regulated) laboratories that offer a test for ABCA4 mutations in Stargardt
disease and cone-rod dystrophy and other laboratories will soon be offering a test for
ABCA4 as well.
Source: Foundation Fighting Blindness Position Paper, October 29,2008
THE ACHIEVER P a g e 1 9 RETINA AUSTRALIA (VIC) INC
with Frank Bartoli
In this edition, member Frank Bartoli has kindly agreed to volunteer for Question
Time. Please contact Rick through the office to volunteer your answers for future
6. What’s the hardest thing
you’ve ever done?
Giving up my driving licence.
Learning to adjust to life without
7. What’s the best thing you’ve
1. What’s your earliest ever done?
memory? Snowy Having a family – being a
When I was a child back in Malta. husband and a father to my girls.
I loved to ring the bells of the
church. Being on the boat trip to 8. What do you like about
Australia. Retina Australia (Vic)?
2. What’s your idea of a good The support and raising of funds
time? for research. Being able to obtain
information for people with eye
Going out and being with my problems.
family and friends.
9. If you could change one
3. What’s your ideal holiday thing about the world, what
destination? would it be?
France – Paris, French Riviera. Peace – harmony for us all to
live in this beautiful world
4. Who inspires you? together.
My wife, Maree. 10. What’s the most important
thing you’ve learnt about life?
5. What makes you angry?
Live every day like it‟s your last.
When I can‟t do things for myself. Make the most of your
opportunities and take the good
with the bad.
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Every $2 from the sale of these owls supports thousands of
Australians who lose a little more sight each day but who hope for a
Please contact Mary in the office if you would like to
purchase a Snowy Owl. Mary can also send you out a
suitably sized pack of Owls, if you are interested in selling to
family and friends. Every $2 helps our fundraising for
Research. We also have little display boxes for shop
counters etc if you are interested.
Do not hesitate to phone 9650 5088. Mary will only be too
happy to help.
** Christmas Cards
There are still some packs of Christmas Cards in the office for
sale. If you are interested in purchasing any of the following
packs of cards, please phone the office (03 9650 5088) on
either Tuesday or Thursday between the hours of 9am and
Gold Card with Green Christmas Tree - $3.00 per pack of
Assorted Pack of ten Cards - $3.00 per pack
16 Christmas Gift Cards - $1.00 per sheet of 16 cards (7cm x 7cm)
Practice easing your way along. Don‟t get het up or in a dither.
Do your best; take it as it comes. You can handle anything if you think you can.
Just keep your cool and your sense of humour.
SMILEY BLANTON, M.D. (1882-1966)
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