Inherited retinal disorders in South Africa and the clinical impact of evolving technologies
dc.contributor.author | Roberts, L. | en_ZA |
dc.contributor.author | Goliath, R. | en_ZA |
dc.contributor.author | Rebello, G. | en_ZA |
dc.contributor.author | Bardien, S. | en_ZA |
dc.contributor.author | September, A. V. | en_ZA |
dc.contributor.author | Bartmann, L. | en_ZA |
dc.contributor.author | Loubser, F. | en_ZA |
dc.contributor.author | Greenberg, L. J. | en_ZA |
dc.contributor.author | Ramesar, R. S. | en_ZA |
dc.date.accessioned | 2017-10-17T07:44:51Z | |
dc.date.available | 2017-10-17T07:44:51Z | |
dc.date.issued | 2016 | |
dc.description | 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. | en_ZA |
dc.description | The original publication is available at http://www.samj.org.za | en_ZA |
dc.description.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. | en_ZA |
dc.description.uri | http://www.samj.org.za/index.php/samj/article/view/10988/0 | |
dc.description.version | Publisher's version | en_ZA |
dc.format.extent | 5 pages : illustrations (some colour) | en_ZA |
dc.identifier.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 | en_ZA |
dc.identifier.issn | 2078-5135 (online) | |
dc.identifier.issn | 0256-9574 (print) | |
dc.identifier.other | doi:10.7196/SAMJ.2016.v106i6.10988 | |
dc.identifier.uri | http://hdl.handle.net/10019.1/102344 | |
dc.language.iso | en_ZA | en_ZA |
dc.publisher | Health & Medical Publishing Group | en_ZA |
dc.rights.holder | South African Medical Journal | en_ZA |
dc.subject | Retina -- Abnormalities -- Genetic aspects | en_ZA |
dc.subject | Retina -- Diseases | en_ZA |
dc.subject | Retinal degeneration | en_ZA |
dc.subject | Medicine -- Research -- Technologies | en_ZA |
dc.title | Inherited retinal disorders in South Africa and the clinical impact of evolving technologies | en_ZA |
dc.type | Article | en_ZA |