Developed by Marleny Alvarado

What is Achromatopsia?

Achromatopsia means “without color” and is defined as little or no function of the cone cells. 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).Achromatopsiais inherited from both the mother and father who carry the disease gene. This condition is a non-progressive visual disorder which is characterized by decreased visual acuity, extreme light sensitivity, and the absence of color vision. A persons with achromatopsia are only able to perceive black, white and shades of gray. Patients with complete achromatopsia have no real understanding of the concept of color. A color like red may be perceived as dark gray while yellow may be perceived as a light gray. The vision is much like that of a black and white photograph with varying shades of gray.

What causes Achromatopsia?

Achromatopsia is caused by an abnormality of the retina, that portion of the eye responsible for making a picture. A balance distribution of the red cones, the green cones, and the blue cones is responsible for normal color vision. If a child is born with non-functioning cones, they will have achromatopsia.

How to detect?

Achromatopsia is present from birth. The first signs may be the presence of nystagmus, a involuntary movement of the eyes moving slowly towards one side and then quickly back and light sensitivity with squinting in bright light. An electroretinogram may show an abnormal photopic or daylight signal while maintaining a normal scotopic or night vision signal. When the child is old enough, color vision testing like the Sloan Achromatopsia Test can further confirm the diagnosis.

What kind of treatments?

There is no treatment to restore normal color vision.

An important new treatment for those with achromatopsia is the use of red central soft contact lenses. The red central contact lenses reduce the severe photophobia (light sensitivity), improve contrast and in some patients may help see the color red.

Dark tinted glasses or red glasses will help reduce the sensitivity to light and enhanced visual functioning.

Although the contact lenses and glasses assist, they will not restore normal color vision.

Sources:

1. Dictionary of Eye Terminology 5th Ed., Barbara Cassin and Melvin L. Rubin, MD, Editor, 2006. Gainesville:FL, pg 23.

2. Ophthalmology Made ridiculously simple, Stephen Goldberg, M.D. 1982 Miami: Fl pgs. 42

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