April 19, 2004.
By Tamar Kahn,
Business Day (Johannesburg).
Local scientists have identified a new genetic mutation that causes a form of hereditary blindness called retinitis pigmentosis, fuelling hope of discovering treatment and perhaps one day a cure for the devastating condition.
Retinitis pigmentosis (RP) includes a complex family of degenerative retinal diseases which cause night blindness and the gradual loss of peripheral vision.
About one in 3000 South Africans are believed to be affected with the condition, and about one in 80 are a silent carrier of a recessive form of the disease which they may pass on to their children. Parents who both carry the same recessive gene have a one in four chance of having an affected child.
The discovery of the CA4 gene mutation, which has been reported in the latest edition of the Proceedings of the US-based National Academy of Sciences, builds on previous work led by University of Cape Town researchers Prof Raj Ramesar and Associate Prof Jacquie Greenberg.
In the mid 1990s the team announced that it had discovered the position on the human genome of two of the more than 150 genes that are known to be linked to RP. These were dubbed RP13 and RP17.
Now they have figured out exactly what the gene associated with RP17 is, and what goes wrong when this carbonic anhydrase (CA4) gene is defective in families carrying a particular form of RP.
It is an exciting find, says Dr George Rebello, the lead author of the academy's paper, because unlike most other genes that are culprits in retinal disease, this one may be amenable to manipulation, and thus therapy.
End of article.
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