The Role of Gene Therapy in the Treatment of Retinal Diseases: A Review

Curr Gene Ther. 2017;17(3):194-213. doi: 10.2174/1566523217666171116170040.


Background: Gene therapy represents the therapeutic delivery of nucleic acid polymers into patient cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ. It is not surprising therefore that several clinical trials are now ongoing in this field.

Objective: The purpose of this review was to provide an update on gene therapy for retinal diseases, discussing differences in treatment strategies, vector designs and surgical techniques.

Method: Research was performed on PubMed,, and Home Genetic Reference. We additionally utilized the internet database for genetics of retinal diseases, the portal for rare diseases and orphan drugs and the NCBI database Online Mendelian Inheritance in Man. No restriction was applied on the language of publications.

Results: We present the available results of current active clinical trials for inherited retinal disease such as Leber's congenital amaurosis type 2, choroideremia, Stargardt disease, achromatopsia and juvenile X-linked retinoschisis. We also illustrate a new approach of this therapy for the treatment of much more common ocular diseases such as age-related macular degeneration and diabetic retinopathy.

Conclusion: Gene therapy represents an emerging and promising therapeutic approach for the treatment not only of rare inherited retinal diseases but also much more common retinal pathologies.

Keywords: Administration route; Distrophy; Eye; Gene therapy; Retina; Viral vectors.

Publication types

  • Review

MeSH terms

  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage
  • Humans
  • Retinal Diseases / genetics*
  • Retinal Diseases / therapy*