Article
Achromatopsia: Genetics and Gene Therapy.
Molecular diagnosis & therapy - 1 Jan 2022
Michalakis Stylianos, Gerhardt Maximilian, Rudolph Günther, Priglinger Siegfried, Priglinger Claudia
Abstract excerpt
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ACHM is caused by pathogenic variants in one of six cone photoreceptor-expressed genes. These mutations result in a functional loss and a slow progressive degeneration of...
Topics
- Animals
- Color Vision Defects
- Cyclic Nucleotide-Gated Cation Channels
- Genetic Therapy
- Humans
- Mutation
- Retinal Cone Photoreceptor Cells