n South African Medical Journal - The value of genetic testing for inherited retinal disease caused by mutations in the gene in South Africans : correspondence

Volume 103, Issue 10
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



Gene-based therapies for inherited retinal degenerative diseases (RDDs) have gained momentum in the past 5 years, and there are currently several early-stage clinical trials underway that have the potential to intervene in disease processes and provide clinical benefit to patients. However, knowledge of a patient's specific underlying genetic mutation(s) is a prerequisite for participation in these trials. Identification of the mutations in patients with RDDs is challenging and costly; there are more than 200 genes associated with RDDs, and each can carry hundreds of potential mutations. Finding the one or two mutations responsible for the RDD in a patient is daunting, so the best candidate gene to screen is often determined by the clinical manifestations of the disease and the inheritance pattern observed.

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