Achromatopsia, also known as total color blindness, is a rare genetic disorder that affects an individual’s ability to perceive color. People with achromatopsia have difficulty distinguishing between different colors and may see the world in shades of grey. The condition is usually inherited as an autosomal recessive trait, meaning an affected individual inherits two copies of the mutated gene, one from each parent.
Achromatopsia affects the cone cells in the retina of the eye, which are responsible for color vision. People with achromatopsia have dysfunctional or missing cone cells, which results in poor or absent color vision. Additionally, people with achromatopsia often have poor visual acuity, sensitivity to light, and nystagmus (involuntary eye movement).
There is currently no cure for achromatopsia, and treatment is limited to managing symptoms. People with the condition may wear tinted glasses or contact lenses to reduce the sensitivity to light and improve visual acuity. Vision therapy, such as sensory substitution, may also be helpful for some individuals. Gene therapy and other treatments are currently being researched as potential future treatments for achromatopsia.
