Browsing by Author "Bartmann, L."

Now showing 1 - 1 of 1
  • Thumbnail Image
    Item
    Inherited retinal disorders in South Africa and the clinical impact of evolving technologies
    (Health & Medical Publishing Group, 2016) Roberts, L.; Goliath, R.; Rebello, G.; Bardien, S.; September, A. V.; Bartmann, L.; Loubser, F.; Greenberg, L. J.; Ramesar, R. S.
    Retinal degenerative disorders (RDDs) encompass a group of inherited diseases characterised by vision loss. The genetic and clinical complexity poses a challenge in unravelling the molecular genetic aetiology of this group of disorders. Furthermore, the population diversity in South Africa (SA) presents researchers with a particularly complicated task. Rapid advances in the development of cutting-edge technological platforms over the past two decades, however, have assisted in overcoming some of the challenges. The RDD research team has utilised these escalating technologies, which has facilitated a corresponding increase in molecular diagnoses. A biorepository has been established and comprises ~3 200 patient DNA samples archived with many forms of RDD (including retinitis pigmentosa, macular dystrophies, Stargardt disease, Leber congenital amaurosis, Usher syndrome and Bardet Biedl syndrome). A comprehensive review is presented of the SA journey spanning 25 years, into elucidating the molecular genetic basis of various forms of RDD in SA.