Achromatopsia

What is achromatopsia?

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.

Are there different types of achromatopsia?

There are two types:

• Complete: Vision is limited to black, white and shades of grey.
• Incomplete: Color vision is limited, with dull hues that can be difficult to distinguish.

How is achromatopsia different from color blindness?

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.

What are my chances of having achromatopsia?

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.

What causes achromatopsia?

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:

• Cones make it possible to perceive colors and see in bright light.
• Rods help you see in low light, such as in a dimly lit room.

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.

What are the symptoms of achromatopsia?

With achromatopsia, you may experience:

• Blind spots (scotomas).
• Blurred vision (astigmatism).
• Color blindness.
• Extreme farsightedness.
• Eye discomfort in bright light (photophobia).
• Myopia (nearsightedness).
• Poor or low vision.
• Rapid eye movements (nystagmus).

How soon do children experience symptoms?

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.

How is achromatopsia diagnosed?

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:

• Color vision testing, which assesses your ability to distinguish different colors.
• Fundus autofluorescence, which uses blue light to examine tissue in the back of the eye (retina).
• Ophthalmic electrophysiology, which evaluates how your eyes and supporting nerves respond to light.
• Electroretinography (ERG), a component of ophthalmologic electrophysiology, this test measures the electrical response of rods and cones.
• Optical coherence tomography (OCT), which generates images of the retina.
• Visual field testing, which shows whether you have blind spots and, if so, how large they are.

How is achromatopsia treated?

Achromatopsia has no cure. People are still able to lead an independent life by maximizing available vision, social support, and managing symptoms.

Special glasses

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.

Low vision therapy

You learn how to complete daily tasks safely by:

• Making materials easier to read with help from electronic magnification devices.
• Navigating unfamiliar places with the help of a long white cane.
• Scanning surroundings for potential fall hazards.
• Taking public transportation to get around if you cannot drive.
• Using high-contrast materials, such as black ink on white paper, that make things easier to see.

Can achromatopsia be prevented?

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.

What is the prognosis for people with achromatopsia?

The prognosis is good:

• Children typically attend regular school. Achromatopsia does not cause learning issues. But children may need assistance to overcome vision-related challenges.
• Adults with achromatopsia often live independently. They may need ongoing support to adapt to their environment and daily activities.

What’s helpful to know about living with achromatopsia?

Certain methods and habits can help you stay safe, comfortable and maximize independence. These include:

Home organization and decor

• Arrange the furniture in your home to maximize open space and limit the likelihood of bumping into things.
• Hang thick curtains in your home that let you control the amount of natural light.
• Minimize glare on surfaces like your walls by using a matte paint.
• Organize your home in ways that make it easier to find essential items. This may include labeling items with tags that have a large, thick font.

Daily activities

• Avoid bright light “whiteouts” by not leaving the house in the middle of the day.
• Get a screen reader to avoid looking at electronic device displays that may be too bright.
• Use vision aid technologies, such as a handheld scanner that announces the object’s color.
• Wear a brimmed hat while outside.

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.