Gene discovery in South
Africa, see page 3
RETINA SOUTH AFRICA
IS HERE! This bold change has been made in
order to embrace all forms of Retinal Degeneration and particularly Age Related
Macular Degeneration. This is in line
with similar international moves, to enhance our corporate image and position
Retina South Africa in the public image as the only organisation in South
Africa dedicated to fighting all forms of Retinal Blindness.
Grey International, one of South Africa’s leading
advertising agencies have designed our new logo and exciting TV, Radio and
Internet adverts to launch our new identity.
This change becomes official at our National Congress launching World
Retina Week.
RETINA SA NATIONAL CONGRESS 2001 – “A Cure in Sight”
21-23 September 2001
The
National Congress starting Friday 21 September 2001 at the Eskom Convention
Centre in Dale Road, Halfway House, Johannesburg, launches World Retina Week
and aims to unite all sufferers of Retinal Degeneration throughout South
Africa.
We are proud to announce that Professor Gerald Chader
an international expert in retinal degeneration, will be our keynote
speaker. Professor Chader is the Chief
Scientific Officer of the American Foundation Fighting Blindness and a past
chairman of The American Eye Institute.
Joining him will be the cream of South African experts in Ophthalmology,
Genetics and eye care rehabilitation.
Gauteng MEC for health, Dr Gwen Ramokgopa and our own Honorary
President, Bruce Fordyce will be opening the congress. Don’t miss this unique opportunity to hear
the latest research findings, get to understand your special condition and
share experiences with other Retinal patients.
The latest devices and technology for visual enhancement will also be on
display.
A booking form is included in this newsletter.
WORLD RETINA WEEK – INTERNATIONAL The
AMD Alliance International will be hosting an exhibition on Age Related Macular
Degeneration at the European Parliament from 17th – 21st
September 2001, they are promoting a five point call for action to fight
Retinal Degeneration.
¨ Access to regular eye
examinations.
¨ Access to treatment options.
¨ Access to research.
¨ Access to rehabilitation.
¨ Access to public environment
and information.
World Retina week activities will be held in Germany,
Australia, Switzerland, France, Hong Kong, Ireland, Netherlands, United States,
New Zealand and South Africa. AMD
Alliance International together with Eskom, are providing funding for our
annual congress.
WORLD RETINA WEEK – SOUTH AFRICA Spurred on by the
excitement, branches have come up with innovative activities such as:
Pick & Pay Run for Sight, Awareness Exhibitions,
Art and Celebrity shopping competitions, Miss and Mister Jeans 2001 competitions,
Civvies Days at schools, exhibits at Libraries and Clinics as well as
collections and the sale of “Is it in your Genes” patches. Press releases have
been sent to magazines and will be provided to the media in all the provinces. The South African Optometric Association
will be distributing World Retina Week posters in their newsletter Optiforum.
Optometric groups such as Spec Savers, Dynamic Vision
Network, Foresight, Clear Vision and Stanley & De Kock are all offering
free retinal screening by appointment through their stores from 24th
to 29th September. They will
display World Retina Week Posters and sell “Is it in your Genes” patches.
Wella South Africa have provided 20 000 sachets of
Vivality Shampoo, which will be distributed free with each patch sold. Buyers
of the patch stand a chance of winning great prizes. The main prize is a R2,000 Travel Voucher from International
Travels. Order now to sell to
colleagues and friends.
FIRST
RP SA GENE FOUND
Research findings by South African geneticists have
resulted in an international consortium of researchers making a major genetic
discovery.
The South African team led by Professors Raj Ramesar
and Jacquie Greenburg of the Division of Human Genetics at the University of
Cape Town, did the essential work towards identifying the general position of
the gene from DNA samples from dozens of South Africans affected by Retinitis
Pigmentosa (RP).
This inherited form of retinal blindness starts with
night blindness and poor contrast vision, leading to tunnel vision and
eventually total blindness. The
collaborative between the UCT research group and UK scientists led to the
identification of the actual gene defect in the laboratory of Dr Chris
Inglehearn, in Leeds (United Kingdom).
The newly described disease-causing gene (RP13) is remarkable in that
every cell in the body uses the protein (PRP8) produced by the gene. However, people with defects in this gene
apparently have only retinal problems.
Hopefully this breakthrough will help researchers
understand the complex mechanisms involved in retinal degeneration and also
create pathways for possible future therapies.
It may also help pharmaceutical companies develop drugs to slow or stop
the progression of the visual loss.
Retinal Degenerations, such as RP and Macular
Degeneration affect thousands of South Africans and millions of people
worldwide. The genetic research at the
University of Cape Town is funded by The Retinal Preservation Foundation of
South Africa – soon to be renamed – Retina South Africa. The British RP Society funds the Leeds work.
National Secretary of the RP Foundation, Claudette
Medefindt (herself affected by a defect in the ‘culprit’ gene) said “ We would
like to thank all our sponsors and supporters who have made this breakthrough
possible. Imagine if this knowledge was
available 25 years ago, it could have prevented my passing the gene mistake to
my two sons. Thankfully the sight of their offspring is now assured. This is
true for dozens of young South Africans carrying this particular gene mutation.
The international progress over the last 3 years offers hope to all South
Africans affected by Retinal Blindness.”
(For
more details see: www.uct.ac.za/depts/genetics
or our own website)
RESEARCH
FLASHES
LCA
A significant step forward towards finding
treatments for Retinal Degeneration was announced in May this year. Researchers in America used gene therapy to
restore some vision in dogs affected by Lebers Congenital Amaurosis (LCA). This type of retinal degeneration also
affects young children, causing severe and early onset of blindness. The gene RPE65 is active in the nurse layer
of cells, the Retinal Pigment Epithelium, which support and nourish the
photoreceptors, the rods and cones. This is a major breakthrough and prepares
the way for human therapy trials for LCA patients. For detailed and complex
information on all the Retinal genes identified, see: www.sph.uth.tmc.edu/retnet/)
LUTEIN, MACULAR PIGMENT
& MACULAR DEGENERATION
Scientific studies have shown that low density in the
macular pigment increases the risk of developing AMD. Further studies show that a daily dose of 10mg Lutein
“significantly increased the density of the macular pigment”. As a service to
members, Retina South Africa has identified a local supplier of marigold
extract Lutein. To order 2 bottles of
120 tablets each, deposit R160 into:
The Retinal Preservation Foundation of South
Africa
Std Bank: Isando, Branch Code: 2542
Account number: 020091427
Fax the deposit slip together with your name and postal
address to Mary at the National Office.
VITAMIN A SAFETY STUDY Dr Eliot Berson has published a 12-year follow-up study
of RP and Usher patients taking daily doses of Vitamin A Palmitate from 16 000
to 24 000 IU. All patients had blood levels of vitamin A within the normal
range and showed no clinical signs of liver toxicity. The study authors concluded “Prolonged daily consumption of less
than 25 000 IU of Vitamin A can be considered safe for this time and amount in
this age group (18 to 54 years old).” Only take Vitamin A under a doctor’s
supervision and have regular liver and blood tests. Remember that high levels of Vitamin A are extremely toxic to an
unborn foetus.
IMPLANTABLE LOW VISION DEVICE IN CLINICAL TESTING
Vision
Care has begun a pilot study to investigate the implantable miniaturised
telescope (IMT). This device is
designed to maximise central vision in patients with Macular Degeneration. The device is implanted with an intra-ocular
lens.
STEM
CELLS IN THE NEWS
President
George Bush of America recently announced limited federal funding of research
on stem cells. The controversy in
America is about stem cells from embryos.
Current retinal research is focused on the use of adult Retinal Stem
Cells – progenitor cells for possible use in Retinal Cell transplantation. These cells are found in adult eyes and the
possibility of growing new photoreceptors from cells found in your own eye is a
very exciting but still distant goal. (Visit cnn.com/stemcell, for CNN articles
on stem cells)
OPTO-BIONIC
CHIPS IMPLANTED On July
31st, Dr Alan Chow announced that Artificial Silicon Retinas have
been implanted in 3 further Retinal patients.
This brings to 6 the total of devices implanted since July 2000. These trials are to study the safety of the
devices and preliminary results are expected by years end. The chips are 2mm in diameter, as wide as
the head of a pin and thinner than a piece of paper. Microscopic cells on each chip stimulate retinal response to
light focused on the cells. At this
stage of development only partial vision will be restored.
EYE PROTECTION BY
MELANIN LENSES
Latest research shows that eyes should be
protected from blue as well as ultraviolet light. Melanin lenses have the
highest EPF (Eye Protection Factor), without disrupting colour perception. See
the full report on the website: www.maculardegeneration.org/melanin.html)
RETINAL DEGENERATION
RESEARCH PROJECT AT UCT
Summary
of DNA banked.
RP
(unclassified) 133
individuals from 64 families.
RPD
(Dominant) 624
individuals from 69 families.
RPR
(Recessive) 204
individuals from 52 families.
RPX
(X-Linked) 81
individuals from 18 families.
Stargardts 275
individuals from 92 families.
Macular
Dystrophy 119
individuals from 70 families.
Lebers
Congenital Amaurosis 6 individuals from 2 families.
Usher
Syndrome 126
individuals from 41 families.
Other
Retinal Degenerations 157
individuals from 71 families.
Total
1725
individuals from 480 families.
So
what has happened to your DNA. If your
genetic defect is found, the laboratory will contact you directly. Here is a message from the laboratory.
THE GENETICS OF RETINAL DEGENERATIVE DISORDERS IN SOUTHERN AFRICA
RESEARCH PROGRAMME
Principal
Investigators
Raj Ramesar Ph.D. Jacquie Greenburg Ph.D.
Professor : Human Genetics Associate Professor: Human Genetics
Rr@cormack.uct.ac.za jg@cormack.uct.ac.za
DEPARTMENT OF HUMAN
GENETICS
First
Floor, Anatomy Building,
University
of Cape Town Medical School,
Observatory, 7925
To all participants in the Gene Tracking Project
Thank you for donating blood
specimens to participate in this research programme. The blood will be used for
investigating the genes underlying the disorder, which is evident in either
yourself or other members of your family.
As this is still a research project, we are unable to issue results as
with a diagnostic pathology test. The
specimens are now going to be processed via several genetic analysis methods,
which are most useful when several members of the same family participate, and
which rely on accurate information regarding the clinical diagnosis of the
disorder and the pattern of inheritance in your family (e.g. dominant,
recessive or X-linked). There are a
vast number of genes involved in different forms of retinal degenerative
disorders, and for this reason the research needs to be reasonably open-ended.
When the relevant gene and specific disease-causing genetic alteration is found
in your kindred, we will contact you, personally, and provide you with
information regarding routes for counselling.
This process is confidential and will require one on one communication.
For the research process to be
successful, we require a good family history as well as accurate clinical
documentation of the condition under investigation. If there are any other disorders or disabilities, which seem to
persist concurrently with the retinal degeneration in either yourself or other
members of your family, we would appreciate this being documented as well. This information may indirectly point to the
biological mechanism of the gene we are looking for. We encourage you to
involve your family, as we may request them to also provide blood specimens to
enhance the family studies. Should you
have any queries whatsoever about the programme, please feel free to contact us
at any time.
The Retinal Preservation
Foundation of South Africa is the major funding agency for our research, as
well as local doctors who assist us with the collection of blood specimens, and
sending them to Cape Town. There is
currently no cost attached to this investigation but we would urge you to
consider supporting the Foundation in its fundraising efforts.
Thank you for your
participation.
Sister Lecia Bartman
UCT RDD Programme co-ordinator
TEL.
(021) 406-6467 FAX. (021) 448 0906 E-MAIL: lb@cormack.uct.ac.za
For further information/membership regarding the RP
Foundation contact:
RETINA SOUTH
AFRICA
PO
BOX 40432, CLEVELAND 2022.
TEL. (011)
622-4904 FAX. (011) 622-6277 EMAIL:
national@rpsa.org.za
RETINA INTERNATIONAL MEDICAL & SCIENTIFIC
ADVISORY BOARD
The
Retinal International Medical & Scientific Advisory Board met in Fort
Lauderdale, Florida, USA in May 2001.
South Africa was represented by Professor Trevor Carmichael, Head of
Opthalmology, Wits University and chairman of SMAB South Africa along with
Professor David Meyer, Head of Ophthalmology at Tygerberg, Stellenbosch.
Attendees were briefed on the latest research in various fields:
¨ Retinal Stem Cells.
¨ Advances in Chip Technology.
¨ A new gene for Macular
Degeneration and other genetic advances.
¨ AMD and environmental
studies.
¨ The impact of light on
Retinal Degeneration.
¨ Growth factors to retard
Retinal Degeneration.
¨ Gene therapy update.
¨ Medical therapy and clinical
trials.
For a fax or e-mail copy of the report, contact Sandy at the National Office.
IN MEMORIUM
Kenneth Cape, born
1922, died May 2001.
Ken was one of the founder members and ardent
supporters of the Gauteng branch. His
wife Joyce was one of our first admin officers and taught us all how to run an
efficient office. Two of Ken’s children
are affected by Macular Dystrophy and Ken strangely developed AMD in later
life. RIP.
Jack Woodland, born 1920, died July 2001.
Jack was the husband of Pat Woodland, Chairman of the
Cape Coastal and Country branch. Jack
and Pat have been tireless workers for the RP cause for many years, firstly in
Cape Town and more recently in Hermanus.
Jack and Pat have a daughter affected by RP. Jack died after a long battle with Parkinsons. RIP
BRANCH NEWS Annual General Meetings has
been held in most branches. Incoming
chairmen are:
Cape
of Good Hope - Roy Abbott
Cape
Coastal & Country - Pat Woodland
East
Cape - Gail
Cillie
Free
State - Willie
Reichert
Gauteng - James Cape
Natal
Coastal - Dennis
Lanz
North
Gauteng - Sarien van Rooyen
MINI
BRANCHES
New mini-branches have been established in George and
East London. A meeting is also been
planned for Escourt. To get involved
contact Francois (George) at 044 879 2886 and Sunette (East London) at 043 741
2484.
Are you interested in establishing a mini branch in
your area, contact 0860 59 59 59 for more details. No committee, no books, just awareness and some fundraising.
As the possibility of therapy in the near future
approaches the amount of money spent on local research becomes critical. More
money buys more laboratory time. Too few people are committed to raising funds
for our Gene Tracking Project. Everyone
can help in some small way.
It is up to you.
NEWSLETTER: Should you require this Newsletter in
Afrikaans, on tape or E-mail, please contact the National Office on 0860 59 59
59.
Pictured below at the
announcement of the RP13 Gene discovery are:
Professor Raj Ramesar
(UCT) and Claudette Medefindt (National Secretary) Retina South Africa