Common Frequently Asked Questions About Achromatopsia

There are seemingly endless problems, diseases and conditions that can occur with a person’s eyes. Vision is one of the body’s senses and life without it can be difficult. There are varying degrees of problems that a person can have with their eyes. Achromatopsia is one of the more rare conditions that one can face. 

People with achromatopsia are what is casually called “color blind”. That term is thrown around a lot for various conditions. People with achromatopsia suffer from what is known as monochromacy. Specifically they suffer from what’s known as rod monochromacy. In this situation, the retinal rods are functioning, but the retinal cones are absent or non functioning. This means that people are unable to see color in any form. Achromatopsia sufferers see the world in black and white, much like old televisions or movies. Since this is a rare condition, it’s often misunderstood and maligned. However, learning more about it can help understand people who suffer from achromatopsia. 

The Four Important Questions

1: How Do You Get Achromatopsia? 

A: The question answer is that you are born with Achromatopsia. A human’s genetic code provides information about who they are going to be and their various traits. When there are defects in the genes in the body, it’s possible that they will cause a condition in a person. In this case, Achromatopsia is usually found due to a defect in one of five genes within the body. While there are some outlier cases that seem to show no cause, it’s believed that this cause is due to other genetic defects, which simply haven’t been linked to achromatopsia as of yet. 

2: Who Gets Achromatopsia?

A: Technically, anyone can get Achromatopsia. It’s a non discriminatory conditions. It is however limited to about 1 in every 30,000 people worldwide. People who get achromatopsia experience it early in life. Typically it starts in infanthood. While achromatopsia is a rare condition, there is one outlier to this. There is a small atoll in Micronesia called Pingelap. Hundreds of years ago, the popular was almost wiped out by a typhoon and then famine. The low population which started rebuilding has resulted in approximately 5% of people with achromatopsia, while almost 40% have one of the defective genes that can cause it. 

3: Are There Symptoms? 

A: Really, the first and only symptom needed for achromatopsia is the inability to see color. It’s a fairly glaring symptom. However, there are other conditions which can act as secondary symptoms that are linked together. Increased sensitivity to light and glare is possible (photophobia). Sometimes, the eyes will fluctuate and move back and forth. People with photophobia may find they are nearsighted or farsighted more often than others. 

4: Can Anything Be Done?

A: People with photophobia are unable to cure this condition. While achromatopsia is unfortunate, it’s the associated conditions which are causing the biggest issues. Photophobia can make driving difficult and cause people to struggle with their day to day activities. There are shaded lenses that can be worn. These are red or brown in color and can be in glasses or contact lenses. These reduce the diffuse light that can cause damage. Regular trips to the opthamologist will be important as vision issues other than achromatopsia can change over time. 

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