Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.
S Afr Med J
; 106(6 Suppl 1): S33-7, 2016 May 25.
Article
em En
| MEDLINE
| ID: mdl-27245521
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
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Tecnologia Biomédica
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Pesquisa Biomédica
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Biologia Molecular
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
País como assunto:
Africa
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article