Achromatopsia

by JeanMarie Vetter and Sadie Goodwin

What is Achromastopsia?

Achromatopsia is a non-progressive and hereditary visual disorder. People with this disorder typically have decreased vision, high sensitivity to light, and the absence of color vision. Achromatopsia is different and less common than red-green color blindness. It affects about 1 in 33,000 people.

Causes of Achromatopsia

Achromatopsia is caused by an abnormality to the retina. In order to be able to see the entire spectrum of colors, a person must have three different cone cells: red, green and blue. People with Achromastopsia lack one or all of these cells. Since it is a hereditary disease, there are specific chromosomes that are affected. They are chromosomes 14, 8q21 and 22, 2q11, and 10q24.

Inheriting Achromatopsia

The achromatopsia gene is inherited from both the mother and father who carry the diseased gene in one of their chromosomes. The parents do not develop the disease since it is recessive. Therefore both genes are required in order for a child to inherit it.

Symptoms of Achromatopsia

Symptoms of Achromatopsia include high sensitivity to light and not being able to clearly distinguish between colors. People with Achromatopsia also can experience a vibration or rapid oscillation in their field of vision, which is known as pendular nystagmus. A color vision exam by a specialist is necessary for an accurate diagnosis.
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Treatment and Cures for Achromatopsia

Unfortunately, there is no known cure for Achromatopsia. Research on gene therapy is ongoing and may lead to clinical trials in the future. Currently, people with Achromastopsia can be prescribed red colored lenses in order to help with the light sensitivity. There are also new devices that allow people to perceive color through sound waves.

Interesting Fact about Achromatopsia

There are many schools, especially in the US, for people that are visually impaired. Many of these schools have areas that specialize in Achromatopsia. Classrooms are typically dimly lit and do not have much color in order to help children learn. This helps them continue to receive an education in a place with others that share their same condition.

Works Cited

"Achromatopsia." AAPOS. AAPOS Headquarters, n.d. Web. 3 May 2015.
<http://www.aapos.org/terms/conditions/10>.

Kang, Peter, ed. "Achromatopsia." Counsyl. Counsyl Inc, n.d. Web. 3 May 2015.
<https://www.counsyl.com/services/family-prep-screen/diseases/
achromatopsia/>.