title: Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.
abstract: 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.
authors.affiliation: Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa. lisa.roberts@uct.ac.za.
authors.forename: L
authors.initials: L
authors.lastname: Roberts
authors.forename: R
authors.initials: R
authors.lastname: Goliath
authors.forename: G
authors.initials: G
authors.lastname: Rebello
authors.forename: S
authors.initials: S
authors.lastname: Bardien
authors.forename: A V
authors.initials: AV
authors.lastname: September
authors.forename: L
authors.initials: L
authors.lastname: Bartmann
authors.forename: F
authors.initials: F
authors.lastname: Loubser
authors.forename: L J
authors.initials: LJ
authors.lastname: Greenberg
authors.forename: R S
authors.initials: RS
authors.lastname: Ramesar
mesh_terms: D035843:Biomedical Research / Q000639:trends*; D020811:Biomedical Technology / Q000639:trends*; D006801:Humans; D008967:Molecular Biology; D025202:Molecular Diagnostic Techniques; D012164:Retinal Diseases / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D013019:South Africa / Q000453:epidemiology