More than 270 genes linked to sight stealing conditions

2016-09-15 06:00

Both September and October are World Eye Care Month and that includes World Retina Week 18- 24th September.

World Retina Week is observed in over 42 countries to create momentum in scientific, government and civil structures to hasten the miraculous journey from blindness to sight for millions of people world- wide with retinal blinding conditions.

The remarkable progress that has been made in the fields of Gene Therapy, Stem cells and Artificial Retinas will be lost if patients with these rare conditions cannot be identified by researchers.

Retinal conditions such as Macular Degeneration and Dystrophies, Retinitis Pigmentosa, Stargardt Disease and other rare conditions cause loss of vision in over 40 million people worldwide and a probable 150 000 South Africans.

International clinical trials to find effective treatments are showing great promise and Retina South Africa has now ensured that South African patients can join the international data base that will connect patients to the correct researchers.

The portal is anonymous, free and leaves the control in the hands of the patient. The site is monitored by the Foundation Fighting Blindness [USA] and researchers are vetted by them before the patient is invited to contact the research institute.

“Most of these genetic retinal conditions are extremely rare -affecting from 1 in 3000 to 1 in 30 000 in the population” said Claudette Medefindt, head of Science for Retina South Africa.

“To find enough patients to treat will require international collaboration and My Retina Tracker is ideal- the patient holds the power.”

Patients who have had a gene test to determine their precise gene mutation will have the best chance of being included in these promising clinical trials.

More than 270 genes have already been linked to these sight stealing conditions and Retina South Africa has partnered with the Division of Human Genetics at the University of Cape Town, headed by Professor Raj Ramesar to find gene mutations unique to South African populations.

This world class team of gene hunters has already made significant genetic discoveries and their work is unique on the African continent.

Retina South Africa is a patient-run NPO with branches in Gauteng, Eastern Cape and Western Cape. Their main objective is to raise funds for research to find treatments for retinal blindness and to ensure that all South Africans have access to these miracles.

“We estimate that over 17000 young South Africans will lose their sight if they do not receive treatment- that is over 1 million blind years that we could save” Medefindt said. She has appealed to all South Africans to support their vision quest at

While the search for a cure is accelerating, many parents live with the frustration of watching their children losing their vision, powerless to stop the relentless and daily degeneration.

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