achromatopsia 2

Achromatopsia 2 is a condition that affects the ability to see colors. People with this condition usually have complete achromatopsia, meaning they see the world in black, white, and shades of gray. In rare cases, some color vision may be present, a form known as incomplete achromatopsia. In addition to color vision loss, other common features include reduced sharpness of vision, involuntary back-and-forth eye movements, increased sensitivity to light, and farsightedness. This summary is based on current trusted information, and more details may become available as research continues.

Common symptoms of achromatopsia 2 include a complete absence of color vision (or in some cases, reduced color discrimination), reduced visual acuity, involuntary eye movements, increased sensitivity to light (photophobia), and farsightedness (hyperopia).

Achromatopsia 2 is caused by mutations in the CNGA3 gene. It is inherited in an autosomal recessive manner, which means a person needs to inherit two copies of the mutated gene to develop the condition.

While the loss of color discrimination in achromatopsia 2 cannot be reversed, treatments are available to help manage some of the associated symptoms such as light sensitivity and reduced vision. People with this condition may benefit from supportive treatments designed to improve comfort and visual function.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition, though ongoing studies aim to better understand achromatopsia 2 and improve management of its symptoms.