Achromatopsia is a condition that leads to the inability to see color. About one in 30,000 people in the United States are affected with achromatopsia. This condition is much rarer than other forms of color blindness, such as red-green color blindness and X-linked color blindness.
Achromatopsia may either be acquired due to damage to the cerebral cortex of the brain (acquired achromatopsia), or it may be inherited due to mutations in specific genes (congenital achromatopsia).
Normally, color is sensed by cone cells in the retina of the eye. In congenital achromatopsia (a form of achromatopsia that is present at birth), the cone cells no longer function properly, resulting in color blindness. In cases of acquired achromatopsia, the cone cells typically are functional, and the color blindness results from other brain damage. Rod cells, another type of photoreceptor cell in the eye that function in less intense light than cone cells, are usually unaffected in patients with achromatopsia.
The severity of achromatopsia can vary among patients. Besides being unable to discriminate colors, patients may have blurred vision, nystagmus (involuntary eye movements, such as shaking or wobbling), or a heightened sensitivity to light that may cause discomfort or pain.
ACHM, achromatopia, acquired achromatopsia, autosomal recessive, color blindness, cone cells, congenital achromatopsia, nystagmus, photophobia, retina, rod monochromacy, vision disorder.