RETINA SOUTH AFRICA – MOVING INTO THE LIGHT
A National
Management Committee Meeting of Retina South Africa was held in Johannesburg on
the 28th and 29th of March. Delegates from Bloemfontein, Cape Town, Durban, Hermanus, Johannesburg,
Port Elizabeth and Pretoria approved a dynamic fresh approach to Fighting
Retinal Blindness in South Africa. Some
of the focus points of this new strategy will be: -
·
An
aggressive membership drive to recruit thousands of South Africans with Retinal
Degeneration and their families,
·
To obtain
blood samples from all these patients for the gene tracking project at the
University of Cape Town,
·
To ensure
that all South Africans are eligible for future therapies and treatments,
·
To empower
members to create an independent and rewarding life style,
·
To
encourage an attitude of hope and enthusiasm in all our members to participate
fully in the Fight against Retinal Blindness,
·
To ensure
that membership, staff and management of Retina South Africa is a true reflection
of the demographic and geographic profile of South Africa,
·
To
establish dynamic youth groups throughout the country,
·
To raise
sufficient funds to ensure the viability of the organisation and all our
projects.
This new
strategy is vital to meet the growing demand of patients and their families for
the establishment of clinical trials for therapy. International success in the treatment of various retinal
degeneration in animals with similar conditions has confirmed that the
application of these results into human trials is now feasible.
To achieve
these bold new objectives we need the dedication and support not only of every
sufferer of a retinal condition but also of every eye care professional, the
corporate sector and provincial and central government.
EMPOWERMENT PROJECT AND INTERACTIVE WORKSHOP
A National
project to educate and empower members and relevant workers in the field of
Retinal degeneration will be held in Johannesburg in September around World
Retina Week.
Retina
South Africa National Office and Branches will be sourcing funding for
subsidies towards transport and accommodation costs of members. The project will be held on a weekend and
costs will be kept as low as possible.
National and International experts from various fields are being
invited. The interactive workshops will
include topics such as: -
·
Understanding
your retinal condition
·
Inheritance
factors – are my children at risk
·
The gene
tracking project – how to participate
·
Treatment
and therapies – preparing South Africans to participate
·
Parenting
issues – parents of low vision children, low vision parents of sighted children
·
Partners
and spouses – they don’t accept or understand
·
Education
and career choices – inclusivity and its special challenges
·
Driving
and transport issues
·
Employment
– the Employment Equity Bill and other issues,
·
Socialising
problems
·
Housing
·
Mobility
·
Sport,
recreation and hobbies
·
Hi and Low
tech assistive devices
·
Youth
programme
Please let
us know which of these topics (or any other) are of interest to you. If you
would like more information please contact us on 0860595959 (local call costs
apply) or by fax or email (see front cover).
US HELPING YOU
Retina
South Africa is a patient action and support group for all South Africans and
their families affected by Retinal Degenerations such as: -
·
Retinitis
Pigmentosa
·
Macular
Degeneration – Age-Related and early onset, Stargardt Dystrophy, Usher
Syndrome, Cone and Cone Rod Dystrophy and many others.
The
organisation is managed and run by Retinal patients, their families and
friends. Counselling and support is
offered at branch level. Some branches
also offer social worker counselling, mobility and skills training. Retina South Africa offers the following
services FREE of charge: -
·
Participation
in the gene tracking project
·
Education
and information
·
Human
services – skills development and assistance with social grants and housing
applications
·
Support
groups
·
Education
and career counselling
·
Mediation
in the work place
·
Personal
development
·
Referral
to specialist services
We are
determined to bring these services to the previously disadvantaged communities
and the rural areas of out community. In addition Retina South Africa creates
public awareness of Retinal Blindness and raises funds to support these
services
BRANCH NEWS
LIBERTY RIDE FOR SIGHT
The 14th Ride for Sight was held in Boksburg on February 23rd. This is the 4th year that Liberty
has sponsored the event and what a great event it was! Over 5000 cyclists
participated in either the 57km or 112km event. The 112km event has been chosen as one of only 12 National events
to be a Liberty seeding event for the Cape Argus Pick and Pay Cycle Tour. Our volunteer portfolio supervisors deserve
special credit. They are Craig Blamey,
Lorna Bristol, Jean and Arthur Bowler, Gordon and Dawn Cousins, James and Sandy
Cape, Chris Fotheringham, Bevan Langton, Audrey Mans, Gavin Mack, Mike and
Ellen McBeath, Colin Nicolson, Michelle and Kobus van der Merwe and Anton van
Rooyen.
Our Chief Executive Officer, Ebrahim Patel and his dedicated staff
members
ensured excellent administrative back up to the supervisors. The ride has
once again received excellent reviews from cyclists and is hailed as one
of
the best-organised events on the South African Cycling calendar.
Springs Wheelers, our organising club, have once again shown their
dedication to Fighting Retinal Blindness. THANK YOU!
NEWS FROM THE EAST CAPE BRANCH
·
Congratulations
to Neville Comley for selling 3500 tickets in the Toyota Christmas Cheer
competition for two Toyota Tazz motor cars.
The branch sold a total of 4000 tickets raising a healthy R14 000.00
from the project.
·
Boniswa
Banga is being sponsored by the John and Ester Ellerman Trust to attend the
International Mobility Congress being held in the Cape in April.
·
Youth
group launched. 13 Young RD’s and their parents met in Port Elizabeth on the 12th
March to launch the youth group in the Eastern Cape.
·
980
runners participated in the Sportmans Warehouse, Prominent Paint 15km road race
and 5km fun run. Retina South Africa (East Cape) were the beneficiaries and
received a generous R8000.00 from the event which was held on 22nd
March in Port Elizabeth
·
Interactive
vision workshops have been launched in 3 Port Elizabeth suburbs – Walmer, Western
suburbs and Kwazakhele. The workshops will provide a non-threatening
environment for information sharing.
For more
information contact Gail Cillie at the PE office on
041 373 3896.
NEWS FROM
THE NORTH GAUTENG BRANCH
The Golf tour to Warmbaths raised R3000. The next tour will be to the
Wildcoast Sun from 23-27 July. Places
still available. Thanks to the
co-ordinator Kas Walkers.
Art Competition 2003:
The theme this year will
be “Feel me – See me” to encourage 1,2, and 3 dimensional works.
Mamelodi Outreach Project:
Nkone Mokoele continues
to expand this exciting project. Thanks
to Professor Roux at the Pretoria academic Hospital for organising confirmation
of diagnosis for this project.
Professor Roux is head of Ophthalmology and a member of our Scientific
Medical and Advisory Board.
Contact Poppie Strydom on 012 5460373 for more information.
PRETORIA EYE INSTITUTE
Thanks to the management and staff of the Pretoria Eye Institute for
their tremendous support of the North Gauteng Branch. The institute hosts all branch meetings and referrals of Retinal
patients from practicing Ophthalmologists and Optometrists is outstanding.
Thank You.
POLOKWANE MINI-BRANCH
Congratulations to Poppie Strydom and the new convenor in Polokwane,
Stefan Steyn for getting this mini-branch going. An inaugural meeting was held on the 7th
of December 2002. Blood samples for the
gene tracking project
were taken by Genetic Sister Hester van der Berg. Contact Stefan Steyn on 015 2977666 for more
information.
NATAL COASTAL BRANCH
Age Related Macular Degeneration:
An educational workshop on Age-Related Macular Degeneration was given by
Claudette Medefindt at the La Lucia Mall on Thursday 4th April. Thanks to Low vision Specialist Joanne Kalil
for co-ordinating this AMD group.
Blood Clinic:
Blood samples for the gene tracking project will be taken at the Durban
Society for the Blind on May 15th from 9am to 13:00pm. Contact John
at 031 3126212 during office hours or Kathy on 031 4222940 after hours. Our genetic Sister from Cape Town, Lecia
Bartmann will be taking blood and answering your questions. Don’t miss this
opportunity to start getting your specific gene identified. Those families whose genes are tracked will
be first in line for future therapy trials.
WESTERN CAPE:
Nikki de Kok is the new Youth Group covenor. Contact her on 0829044834.
FREE STATE BRANCH:
Calling all members in Bloemfontein to become involved in branch
activities contact Willie on 051 4361007.
To help you understand the exciting developments in science and research
we will be explaining various scientific terms in each newsletter.
Structure of the eye: -
·
CORNEA: This is the outer protective lining in the
front of the eye
·
IRIS: This is the coloured part of the eye.
·
PUPIL: This is the opening in the centre of the
eye, getting smaller or larger to let in more or less light
·
LENS: This lies behind the pupil and changes shape
to change the point of focus point of light onto the Retina
·
CATARACT: This is a cloudiness of the lens that causes
loss of vision
·
VITREOUS: This is the white part of the eye that keeps
the eye in shape like the air keeps a soccer ball in shape
·
RETINA: The Retina lies at the back of the eye and
acts like a film in a camera. The
Retina changes light into messages which are sent by the OPTIC nerve to the
part of the brain where “seeing” occurs – the VISUAL CORTEX
More about the Retina in the next Newsletter.
Human
Genome: -
·
CHROMOSOMES: Inside the nucleus (centre) of each cell in your body are two sets of
information codes, inherited from each parent.
The codes are broken up into 23 “chapters” known as chromosomes. The
chromosomes are numbered from 1 to 22.
The remaining pair is known as the sex chromosomes. They are either two X chromosomes in
females, or an X and a Y in males.
Collectively these chromosomes are known as the human GENOME.
·
GENE: inside each chromosome are thousands of sets of instructions to
produce complex PROTEINS, the building blocks of all cells – these are our
GENES. There are approximately 60 000
genes in each set of chromosomes. There
are often small differences between the maternal and paternal copies of each
gene. Some differences lead to an
incorrect copy of a protein being made in the cell. These differences can be traced through the family. Genes known to code for proteins that are
used by the eye for vision can be checked for errors. Tracking genes and looking for incorrect copies of a specific
gene in a family is known as Gene Tracking.
SCIENCE NEWS
Moving to
Clinical Trials:
The American Foundation Fighting Blindness (FFB) sponsored a workshop on
January 30th to consider the clinical challenges facing the
development of treatments and cures for Retinal degeneration. Leading International Ophthalmologists and
Researchers attended. Extracts from Tom
Hoglund’s report:
“The workshop participants spoke frankly about the
great potential and the great challenges facing us. Three major scientific themes emerged.”
Animal Models:
FDA approval to test new therapies in clinical trials hinges on the
safety and efficacy of the therapy in animals.
All of the treatment breakthroughs so far have come from such trials. Unfortunately animal models do not exist for
every retinal degenerative condition.
More funding is required to discover or develop animal models for all
these conditions.
Genotyping: (Genetic Diagnosis)
Imagine the horror of developing a successful treatment but not being
able to identify the patients who would benefit from the treatment. All treatments will require that we know
each patient’s genetic diagnosis or genotype.
We have the scientific ability to do this but lack the funding. Federal support for genetic research ends
once a gene mutation is found and private laboratories cannot offer affordable
genetic testing services. To avert a
future where clinical trials and treatment go begging for patients we need to
increase funding to genotype all patients.
[Editors note: In South Africa genotyping is being offered FREE of
charge]
Gene and Drug Therapies
Researchers have discovered many new gene and drug therapies that show
effectiveness in animal models. At last
we have the knowledge to beat and possibly cure Retinal degenerative diseases.
As we head toward clinical trials, research needs will become even
greater. For every promising
experimental therapy, toxicity studies must be completed to test the safety of
the treatment. Long term effectiveness
and dangers also need to be tested. The
hard work and capital we’ve invested in developing treatments and cures now
demands even greater support. We cannot
let these precious discoveries languish on the laboratory bench.
Workshop on Artificial Vision: -
The 1st International Symposium on
artificial vision will be held in Fort Lauderdale, Florida, USA on May 2,
2003. Researchers from America, Germany
and Japan will meet to present papers and review progress on various methods of
artificial vision. One of the major
focuses will be on various forms of the artificial silicon retinal
prosthesis. We look forward to the
outcome of this meeting and in the longer term a retinal prosthesis that will
restore some form of reasonable vision.
Historic Partnership: -
From a report by Tom Hoglund:
The American Foundation Fighting Blindness and OxiGENE INC. recently
signed a historic agreement to conduct a clinical trial of Combretastatin. This promising drug will be tested in the
wet form of age related macular degeneration. FFB will fund Phase 1 and 2
clinical trials. This is the first time
that the FFB has funded a human clinical trial.
The drug was tested in a rodent model for wet AMD and appears to inhibit
the growth of aberrant blood vessels while not affecting normal blood vessels
in the retina.
Editors note: Wet Age Related Macular Degeneration is a particularly
devastating form of the disease that can cause rapid and severe loss of vision.
Combretastatin is derived from the African Bush willow and is also under trial
as a treatment against cancer.
NATIONAL GENETICS CONGRESS
The National congress on Human Genetics will be held
in Durban from 11th to 14th May, 2003. Besides presentations from our local
researchers, Dr. Bill Hausewirth an international expert on Retinal Gene
therapy, will be presenting two papers: -
·
Gene based
therapies for Retinal Neovascular Diseases and;
· Restoration of vision in a canine model of Leber
Congenital Amaurosis, an early form of congenital blindness.
While he is here Dr Hausewirth will be addressing Eye
Care professionals and members on gene therapy in Johannesburg, Durban and Cape
Town. Those wanting to attend should email us at national@rpsa.org.za
or call on
011 622 4904
GENE TRACKING PROJECT AT UCT
Of the thousands of people in South Africa affected
by retinal conditions an alarmingly low percentage have donated blood to the
gene-tracking project. This service is
offered free of charge to all South Africans affected by Retinal degenerative conditions.
Without a genetic diagnosis you may be left out of future clinical
trials or treatments. Contact the national office for more details.
NEW GENE FOUND FOR MACULAR DEGENERATION
Researchers at the University of Michigan have found that a gene on the
X chromosome, known to cause around 70% of the RP3 form of X-linked Retinitis
Pigmentosa, can also cause macular degeneration.
Results of this study may help researchers find treatments for age
related forms of macular degeneration.
GENES ASSOCIATED WITH AGEING IDENTIFIED: -
Dr Anand Swaroop, also at the University of Michigan, has identified
genes expressed in the retina that are affected by ageing. Of the 1200 genes
that are expressed (active) in the retina, 24 genes were found to be altered
during ageing.
“While we still don’t know what causes AMD, we do know that the
strongest factors are age and family history” said Swaroop.
Researchers speculate that some people carry genetic weaknesses or
variations that only surface later in life.
The ageing process may then trigger or reveal such variations, which may
then lead to AMD.
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The success
or failure of bringing research successes to actual treatment and therapy is up
to us. Your support is critical.
REPORT ON RETINAL REGENERATION DISORDERS RESEARCH AT UCT
X-Linked Retinitis Pigmentosa
The DNA of X-Linked families was screened for the RPGR gene. Some
families were found to have a mutation in the one section of the gene.
One large family has had the results delivered to them and another
family is being counselled at the present time.
A third X-Linked family (RP2) with a different mutation gene has also
been counselled. In X-Linked RP the
females carry the genetic defect. In
addition 109 males with no identifiable inheritance pattern were also screened
for these X-Linked genes.
Dominant RP17 Gene Research
This gene, in a large family of German origin with dominant RP, has been
worked on for many years. Constant
effort and hard work have consistently narrowed the region where the gene is
elusively hiding. The new million rand
transgenomic wave DNA analysis machine acquired by the laboratory has helped in
the search. A new collaboration with Professor F. Cremers in Holland will speed
up the hunt for this important gene.
Dominant Retinitis Pigmentosa – RP13
This gene was identified in 2001 in a large South African family of
British origin. Other individuals with
dominant RP have been screened but other than members of the original family no
other linkage has been found.
Stargardt Dystrophy
A comprehensive study of this early onset macular degeneration
continues. Allison September, who is working
on her PhD in this project spent a year at Oxford with Dr Richard Callaghan.
This gene on chromosome ONE has been linked not only to Stargardt Dystrophy but
also to Fundus Flavimaculatus, Recessive Cone Rod Dystrophy, recessive
Retinitis Pigmentosa and possibly age-related Macular Degeneration. A panel of 77 unrelated individuals were
used for a mutation-screening programme.
The study has been complicated by the fact that affected individuals may
carry 2 different mutations of the gene.
At least one mutation has been found in 54% of the patients studied and
at least 2 diseases causing mutations were found in 22% of the patients.
Screening of Stargardt families for another Stargardt gene on chromosome
6 will be undertaken this year.
Rhodopsin
The gene on chromosome 3, which codes for Rhodopsin has been shown to
account for 30 – 40% of Dominant RP in most western countries.
This gene accounts for a significantly lower percentage of ADRP in South
Africans. A total of 114 ADRP patients have been screened for this genetic
mutation and an additional 206 other patients have been partially
screened. A Rhodopsin mutation in 5
ADRP families has been found which only accounts for about 10% of identified
families.
A Rhodopsin mutation was also found in a recessive RP patient. All families have been informed and 5
families have received genetic counselling.
Usher Syndrome
Past collaboration with Professor Bill Kimberling from Nebraska resulted
in 7 families being linked to 3 different disease causing mutations.
A new M.Sc graduate Nathabiseng Motloi will do further research on 44
Usher families this year in the department of Human Genetics at UCT.
Results
A total of 21 families have a definite molecular result and 9 of these
families have been contacted.
Future plans, besides extra work in these existing areas include a joint
project with the Division of Cell Biology at UCT to try and develop a model for
repairing damaged retinal cells using Neural Stem cells.
EDITORS NOTE: -
Funding for this project is raised by members of Retina South
Africa. How do you support this fund
raising?