Congratulations to Professor Ramesar and his team of gene hunters at the University of Cape Town. The first results of their newly established Diagnostic panel to identify gene mutations in South African patients with retinal conditions are amazing. Of the 12 patients tested a complete result, 2 mutations were found in 8 patients- a credible 67% success rate. This compares very favourably with international panels and at less than half the cost.
The panel is a state of the art Next Generation Sequencing panel and the team picked 108 genes that have been associated with Inherited Retinal Degeneration in SA.
Good news is that the number of genes has now been increased to 116. The 2nd group of patients has already been identified and testing will begin soon.
How can you be tested?
- You need to be a member of Retina South Africa
- You need a clinical diagnosis of your retinal condition from an Ophthalmologist
- You need to contact Retina South Africa to organise an appointment with a Genetic Counsellor.
- Discuss costs and funding opportunities for the test- R12 000, with Retina SA.
- Call the national office at 0114501181 for more information.