Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Achromatopsia is an autosomal recessively inherited congenital defect characterized by a lack of cone photoreceptor function, leading to severely impaired vision. In this clinical study, achromatopsia patients were treated with a single subretinal injection of rAAV.hCNGA3 to restore cone function. The focus of this trial was on the safety of the treatment. After surgery, patients were monitored in eight extensive visits during the first year, followed by a 4-year follow-up period with annual visits. For essential complementation of the standard ophthalmological and systemic examinations, disease-specific methods were developed to assess the safety, efficacy, and patient-reported outcomes in this trial.

Original publication




Journal article


Hum Gene Ther Clin Dev

Publication Date





121 - 131


AAV8, CNGA3, eye, gene therapy, subretinal injection, Adult, Aged, Color Vision Defects, Cyclic Nucleotide-Gated Cation Channels, Dependovirus, Dose-Response Relationship, Drug, Female, Genetic Therapy, Genetic Vectors, Humans, Injections, Male, Middle Aged, Mutation, Retinal Cone Photoreceptor Cells