Gene therapy for optic nerve disease

K. R.G. Martin, H. A. Quigley

Research output: Contribution to journalArticle


Purpose. There has been recent interest in the potential use of gene therapy techniques to treat ocular disease. In this article, we consider the optic nerve diseases that are potentially most amenable to gene therapy. Methods. We discuss the recent success of gene transfer experiments in animal models of glaucoma, optic neuritis, Leber's hereditary optic neuropathy (LHON), and optic nerve transection, and we assess the possibility of using similar techniques to treat human disease in the future. Results. We have achieved highly efficient transfection of retinal ganglion cells in a rat model of glaucoma following a single intravitreal injection of adeno-associated virus (AAV). In our model, we have found that AAV-mediated gene therapy with brain-derived neurotrophic factor has a significant neuroprotective effect compared to saline or control virus injections. Guy and coworkers have successfully used AAV-mediated gene therapy to replace the defective mitochondrial enzyme subunit in cells derived from human patients with LHON. Gene therapy techniques have also shown promise in animal models of optic neuritis and optic nerve trauma. Conclusions. Human diseases with single-gene defects such as LHON may soon be treated successfully by gene therapy, assuming that vectors continue to improve and are well tolerated in the human eye. Other optic nerve diseases such as glaucoma that do not have a single-gene defect may also benefit from gene therapy to enhance RGC survival. In all cases, the risks of treatment will need to be balanced against the potential benefits.

Original languageEnglish (US)
Pages (from-to)1049-1055
Number of pages7
Issue number11
StatePublished - Nov 2004


  • Adeno-associated virus
  • Brain-derived neurotrophic factor
  • Gene therapy
  • Glaucoma
  • Optic nerve

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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