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Gene therapy in color vision deficiency: a review

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Abstract

Background

Color vision deficiencies are a group of vision disorders, characterized by abnormal color discrimination. They include red-green color blindness, yellow-blue color blindness and achromatopsia, among others. The deficiencies are caused by mutations in the genes coding for various components of retinal cones. Gene therapy is rising as a promising therapeutic modality. The purpose of this review article is to explore the available literature on gene therapy in the different forms of color vision deficiencies.

Methods

A thorough literature review was performed on PubMed using the keywords: color vision deficiencies, gene therapy, achromatopsia and the various genes responsible for this condition (OPN1LW, OPN1MW, ATF6, CNGA3, CNGB3, GNAT2, PDE6H, and PDE6C).

Results

Various adenovirus vectors have been deployed to test the efficacy of gene therapy for achromatopsia in animals and humans. Gene therapy trials in humans and animals targeting mutations in CNGA3 have been performed, demonstrating an improvement in electroretinogram (ERG)-investigated cone cell functionality. Similar outcomes have been reported for experimental studies on other genes (CNGB3, GNAT2, M- and L-opsin). It has also been reported that delivering the genes via intravitreal rather than subretinal injections could be safer. There are currently 3 ongoing human clinical trials for the treatment of achromatopsia due to mutations in CNGB3 and CNGA3.

Conclusion

Experimental studies and clinical trials generally showed improvement in ERG-investigated cone cell functionality and visually elicited behavior. Gene therapy is a promising novel therapeutic modality in color vision deficiencies.

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Authors and Affiliations

  1. Ophthalmology Department, American University of Beirut, Beirut, Lebanon

    Zeinab El Moussawi & Christiane Al-Haddad

  2. Faculty of Medicine, Medical School, American University of Beirut, Beirut, Lebanon

    Marguerita Boueiri

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  1. Zeinab El Moussawi
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  2. Marguerita Boueiri
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  3. Christiane Al-Haddad
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Contributions

Dr. Al-Haddad came up with the idea for this review article. Dr. El Moussawi performed a thorough literature search and review. Dr. El Moussawi and Miss Boueiri drafted the review article that was then critically revised by Dr. Al-Haddad.

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Correspondence to Christiane Al-Haddad.

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El Moussawi, Z., Boueiri, M. & Al-Haddad, C. Gene therapy in color vision deficiency: a review. Int Ophthalmol 41, 1917–1927 (2021). https://doi.org/10.1007/s10792-021-01717-0

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