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Division of Human Genetics

The molecular investigation of Stargardt disease in South Africa

Abstract

dc:description.abstract

Hereditary 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

Chain of custody

source
Harvested from
University of Cape Town
Base URL
open.uct.ac.za/oai/request
Last updated
2026-07-22
Source record
OAI-PMH GetRecord
related terms
citation

September, Alison. The molecular investigation of Stargardt disease in South Africa. Division of Human Genetics, 2003. http://hdl.handle.net/11427/3105