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Division of Human Genetics
The molecular investigation of Stargardt disease in South Africa
Abstract
dc:description.abstractHereditary macular degeneration describes a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form.
Degree
thesis:*- Grantor dc:publisher.institution
- Division of Human Genetics
- Year dc:date.issued
- 2003
Author and committee
dc:creator, dc:contributor.*- Author dc:creator
-
- September, Alison
- Advisors dc:contributor.advisor
-
- Greenberg, Jacquie
- Ramesar, Raj
- Callaghan, R
- Kerr, Ian
- Linton, K
Rights
- Language dc:language.iso
- eng
Identifiers
dc:identifier.*- Handle dc:identifier.uri
- http://hdl.handle.net/11427/3105
- OAI identifier oai:identifier
- oai:open.uct.ac.za:11427/3105