The back of your eye contains light-sensitive cells that help you perceive color. With achromatopsia, you have limited or no color vision plus serious vision issues. In addition to being color blind, you may be sensitive to bright light and have low vision. Treatments aim to manage symptoms and maximize independence.
Achromatopsia is an inherited vision disorder that limits your ability to see color. It’s present at birth and usually nonprogressive, meaning the symptoms don't worsen over time.
There are two types:
In color blindness, people have normal vision and see some color. In achromatopsia, vision is reduced, there is a lack of color vision, and other vision issues arise such as rapid eye movements. Symptoms often make it difficult to go about daily life.
You are more likely to have this condition if there’s a family history. If achromatopsia runs on both sides of your family, your chances of having it are 1 in 4.
Achromatopsia is a genetic disorder that results from mutations in one of six genes. The condition causes issues in the back of the eye (retina). This area contains light-sensitive cells (photoreceptors) that send information to the brain. Two types of cells support this process:
With achromatopsia, the cones don't function as they should. If you have complete achromatopsia, vision depends on rod activity. If you have incomplete achromatopsia, vision is based on rods and some cone functioning.
With achromatopsia, you may experience:
Light sensitivity occurs in the first months of life. Symptoms, such as poor vision and color blindness, may also be present. But you might not notice them until your child is a little older.
An eye care professional (ophthalmologist) diagnoses achromatopsia. The assessment starts by reviewing your family history and symptoms.
A retinal exam may be normal, so additional tests are necessary. These include:
Achromatopsia has no cure. People are still able to lead an independent life by maximizing available vision, social support, and managing symptoms.
Treatment often includes dark-tinted glasses. The lenses filter out specific types of light. Frames may extend toward the temples to maximize coverage. They may also have a shield at the top.
You learn how to complete daily tasks safely by:
There isn’t anything you can do to prevent this condition. If it runs on both sides of your family, you may wish to consider genetic testing. The results let you know the chances of passing on the condition to your unborn child.
The prognosis is good:
Certain methods and habits can help you stay safe, comfortable and maximize independence. These include:
A note from Cleveland Clinic
Achromatopsia is an inherited vision disorder affecting your ability to perceive color. The condition also affects vision quality. Symptoms can be severe and interfere with everyday life. But with special glasses, therapy and support, you can maintain your independence.
Last reviewed by a Cleveland Clinic medical professional on 07/29/2022.
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