Inherited retinal disorders in South Africa and the clinical impact of evolving technologies

Roberts, L. ; Goliath, R. ; Rebello, G. ; Bardien, S. ; September, A. V. ; Bartmann, L. ; Loubser, F. ; Greenberg, L. J. ; Ramesar, R. S. (2016)

CITATION: Roberts, L., et al. 2016. Inherited retinal disorders in South Africa and the clinical impact of evolving technologies. South African Medical Journal, 106(6):33-S37, doi:10.7196/SAMJ.2016.v106i6.10988.

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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.

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