title: Pathogenic mechanisms and the prospect of gene therapy for choroideremia.
abstract: BACKGROUND
  Choroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic mechanisms, have emerged that aim to prevent the progressive vision loss.
  
  
  METHODS
  This article will review the research that has progressed incrementally over the past two decades from mapping to gene discovery, uncovering the presumed mechanisms triggering the retinopathy to preclinical testing of potential therapies.
  
  
  CONCLUSIONS
  While still in an evaluative phase, the introduction of gene replacement as a potential therapy has been greeted with great enthusiasm by patients, advocacy groups and the medical community.
authors.affiliation: University of Alberta, Department of Ophthalmology and Visual Sciences, Edmonton, Alberta, Canada.
authors.forename: Ioannis S
authors.initials: IS
authors.lastname: Dimopoulos
authors.affiliation: University of Alberta, Department of Ophthalmology and Visual Sciences, Edmonton, Alberta, Canada.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Chan
authors.affiliation: Oxford Eye Hospital and Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, Oxford, UK ; Moorfields Eye Hospital Foundation Trust, NIHR Ophthalmology Biomedical Research Centre, London, UK.
authors.forename: Robert E
authors.initials: RE
authors.lastname: MacLaren
authors.affiliation: University of Alberta, Department of Ophthalmology and Visual Sciences, Edmonton, Alberta, Canada.
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
keywords: REP1; choroideremia; gene therapy; retina