Gene Therapy for Color Blindness

Mark Hassall, Alun Barnard, Robert Maclaren

    Research output: Contribution to journalReview articlepeer-review

    17 Citations (Scopus)


    Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. The most common underlying genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. Animal models of Cnga3, Cngb3, and Gnat2 have been rescued using AAV gene therapy; showing partial restoration of cone electrophysiology and integration of this new photopic vision in reflexive and behavioral visual tests. Three gene therapy phase I/II trials are currently being conducted in human patients in the USA, the UK, and Germany. This review details the AAV gene therapy treatments of achromatopsia to date. We also present novel data showing rescue of a Cnga3-/-mouse model using an rAAV.CBA.CNGA3 vector. We conclude by synthesizing the implications of this animal work for ongoing human trials, particularly, the challenge of restoring integrated cone retinofugal pathways in an adult visual system. The evidence to date suggests that gene therapy for achromatopsia will need to be applied early in childhood to be effective.

    Original languageEnglish
    Pages (from-to)543-551
    Number of pages9
    Issue number4
    Publication statusPublished - Dec 2017


    • Achromatopsia
    • Cone photoreceptors
    • Gene editing
    • Gene therapy


    Dive into the research topics of 'Gene Therapy for Color Blindness'. Together they form a unique fingerprint.

    Cite this