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.
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). There are currently 3 ongoing human clinical trials for the treatment of achromatopsia due to mutations in CNGB3 and CNGA3.
