What is Achromatopsia?
Achromatopsia is an eye problem where it is hard to see and hard to see colors. This is because a part of the eye called the retina does not work well. People with this issue have blurry vision and mostly see black, white, and gray. Bright light can hurt their eyes, and their eyes might shake (nystagmus). Some can see a few colors, but not many.
What are the types of Achromatopsia?
Achromatopsia has two types:
- Complete: can’t see any colors at all.
- Incomplete: can see some colors, but not all.
The incomplete type has less blurry vision than the complete type.
How well does a child with Achromatopsia see?
Kids with this problem don't see as well as other kids. Like mentioned before, they see mostly black, white, and gray. Bright light bothers them, and their eyes might shake (nystagmus). Some kids with achromatopsia need strong glasses to help them focus. Some kids with this problem see a bit better than others. In achromatopsia, vision does not get better or worse as kids grow.
How common is Achromatopsia?
It’s rare. About one in every 30,000 babies has it. It is caused by a gene problem. It happens more in places where family members often marry each other and in the eastern Pacific islands of Pingelap.
Are color blindness / deficiency and Achromatopsia the same condition?
No, color vision deficiency is when people have trouble telling red from green. People with color blindness see other colors well and have good vision.
What causes Achromatopsia?
Kids are born with achromatopsia. It comes from a gene problem that causes a part of the eye (cone cells in the retina) not to work. Kids get the gene problem from their parents. Problems in these genes are known to cause achromatopsia: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H.
How do doctors find Achromatopsia?
The eye doctor (ophthalmologist) checks the eyes for signs of achromatopsia. Sometimes special eye tests are needed. Blood tests can be done to look for gene problems as well.
What treatment is available for Achromatopsia?
Currently, there is no cure for achromatopsia, but there are special glasses and tools to help kids see better. Red-colored or dark glasses can help. Wrap-around glasses can help too. (see figures 1 & 2) People are looking new ways to help people with achromatopsia see better. It is important to connect with local low-vision services to get help for school, work, or home.
How can we help kids with achromatopsia at school?
Kids with achromatopsia can go to regular schools but might need extra help. They might learn better if they:
- Sit at the front of the class
- Use big books
- Use special tools to help them learn
Kids with really blurry vision may learn better with help from the State Commission for the Blind and in special schools for kids with very blurry vision.
Is there an Achromatopsia support group?
Updated 06/2024
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