Achromatopsia, also known as total color blindness, is a rare genetic disorder characterized by the inability to perceive colors. Individuals with this condition experience a complete absence of color vision, seeing the world in shades of gray. Achromatopsia is typically present from birth and affects both eyes equally.
Synonyms for achromatopsia include:
Achromatopsia is caused by mutations in genes that are responsible for the normal functioning of cone cells in the retina. These cone cells are responsible for color vision under normal circumstances. The condition is typically inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for their child to be affected.
Individuals with achromatopsia often experience other visual impairments, such as extreme sensitivity to light (photophobia), reduced visual acuity, and nystagmus (involuntary eye movements). There is currently no cure for achromatopsia, but various management strategies can help individuals cope with the condition. These may include wearing tinted lenses or sunglasses to reduce light sensitivity, using visual aids, and seeking support from low vision specialists.