Achromatopsia

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Achromatopsia

Achromatopsia (pronounced: ah-kro-ma-top-see-uh) is a medical condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.

Etymology

The term "achromatopsia" is derived from the Greek words "a" meaning "without", "chroma" meaning "color", and "opsia" meaning "vision". Thus, it translates to "without color vision".

Symptoms

The primary symptom of achromatopsia is the inability to perceive color. Other symptoms may include nystagmus, photophobia, hemeralopia, and poor visual acuity.

Causes

Achromatopsia is usually an autosomal recessive condition, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of achromatopsia is based on the clinical symptoms, a detailed patient history, and specialized tests such as electroretinography and genetic testing.

Treatment

There is currently no cure for achromatopsia. Treatment is directed towards managing symptoms, such as using sunglasses to alleviate photophobia and using magnifying devices to improve visual acuity.

Related Terms

External links

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