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

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dc.contributor.authorRoberts, L.en_ZA
dc.contributor.authorGoliath, R.en_ZA
dc.contributor.authorRebello, G.en_ZA
dc.contributor.authorBardien, S.en_ZA
dc.contributor.authorSeptember, A. V.en_ZA
dc.contributor.authorBartmann, L.en_ZA
dc.contributor.authorLoubser, F.en_ZA
dc.contributor.authorGreenberg, L. J.en_ZA
dc.contributor.authorRamesar, R. S.en_ZA
dc.date.accessioned2017-10-17T07:44:51Z
dc.date.available2017-10-17T07:44:51Z
dc.date.issued2016
dc.descriptionCITATION: 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.en_ZA
dc.descriptionThe original publication is available at http://www.samj.org.zaen_ZA
dc.description.abstractRetinal 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.en_ZA
dc.description.urihttp://www.samj.org.za/index.php/samj/article/view/10988/0
dc.description.versionPublisher's versionen_ZA
dc.format.extent5 pages : illustrations (some colour)en_ZA
dc.identifier.citationRoberts, 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.v106i6.10988en_ZA
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.otherdoi:10.7196/SAMJ.2016.v106i6.10988
dc.identifier.urihttp://hdl.handle.net/10019.1/102344
dc.language.isoen_ZAen_ZA
dc.publisherHealth & Medical Publishing Groupen_ZA
dc.rights.holderSouth African Medical Journalen_ZA
dc.subjectRetina -- Abnormalities -- Genetic aspectsen_ZA
dc.subjectRetina -- Diseasesen_ZA
dc.subjectRetinal degenerationen_ZA
dc.subjectMedicine -- Research -- Technologiesen_ZA
dc.titleInherited retinal disorders in South Africa and the clinical impact of evolving technologiesen_ZA
dc.typeArticleen_ZA
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