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Gene therapy for ocular diseases
  1. Melissa M Liu,
  2. Jingsheng Tuo,
  3. Chi-Chao Chan
  1. Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
  1. Correspondence to Dr Chi-Chao Chan, 10 Center Drive, Bldg 10, Rm 10N103, NIH/NEI, Bethesda, MD 20895-1857, USA; chanc{at}


The eye is an easily accessible, highly compartmentalised and immune-privileged organ that offers unique advantages as a gene therapy target. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been implicated as potentially efficacious therapies. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. Proof-of-concept for vector-based gene therapies has also been established in several experimental models of human ocular diseases. After nearly two decades of ocular gene therapy research, preliminary successes are now being reported in phase 1 clinical trials for the treatment of Leber congenital amaurosis. This review describes current developments and future prospects for ocular gene therapy. Novel methods are being developed to enhance the performance and regulation of recombinant adeno-associated virus- and lentivirus-mediated ocular gene transfer. Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Stargardt disease and age-related macular degeneration. Advances have also been made using experimental models for non-retinal diseases, such as uveitis and glaucoma. These methodological advancements are critical for the implementation of additional gene-based therapies for human ocular diseases in the near future.

  • Treatment
  • other
  • eye
  • experimental-laboratory
  • degeneration
  • genetics
  • eye (globe)
  • degeneration
  • treatment other

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  • Funding This work was supported by the NEI Intramural Research Program and the American Health Assistance Foundation (M2007037). Other Funders: National Institutes of Health.

  • Competing interests None.

  • Ethics approval Yes.

  • Provenance and peer review Commissioned; externally peer reviewed.