Become Educated About Achromatopsia

A person’s vision is something very important to them. Many are the people who love the view of a wonderful sunset. What is it that makes things so interesting to them? Most people would describe the vivid colors that they see.

Ads related to

People with achromatopsia may be of a different opinion. 

Achromatopsia is a rare disease of a person’s retina. People with achromatopsia are unable to see color in the same fashion that other people do. They are unable to see color in any form. This genetic disease doesn’t occur in many people. It’s a rare condition. There are also other forms of color blindness, and some people may use the term interchangeably. If you are interested in learning more about achromatopsia, then keep reading! 

Causes of Achromatopsia

A person’s retina is made up of cones and rods. A person with achromatopsia has to do with a person’s retinal cones. Achromatopsia can also be called rod monochromacy as it is specifically deals with the cones. A person with achromatopsia can’t see any type of color. They see in full greyscale. The retinal cones may function incorrectly, or they may not function at all. 

The vast majority of cases of achromatopsia have occured when there are mutations to a few specific genes in the body. The 5 most common genes for it to occur in are: 

  • CNGA3
  • CNGB3
  • GNAT2
  • PED6C
  • PDE6H

There are also some cases of achromatopsia in which no mutations are shown in those genes. While these account for the majority of cases, there are some in which those mutations are not found. While it’s assumed that the cause of these cases are genetic, the specific links have not been found out yet. 

Symptoms of Achromatopsia

The symptoms of achromatopsia obviously start with the inability to distinguish color. Unlike other types of color blindness, this is a full loss of seeing color. However, this is not the only symptom that people may experience. Other issues and symptoms can play a role. 

People who suffer from achromatopsia will likely also deal with photophobia. This is a sensitivity to light and glare. It’s also possible for a person to feel nystagmus. These are involuntary eye movements back and forth. It’s also possible for people to struggle with the sharpness of their vision. This low visual acuity affects all distances. In other cases, a person can suffer from some of the most common visual issues. That is to say, people with achromatopsia can end up being farsighted or nearsighted. 

Symptoms of achromatopsia tend to appear with a quick sonset. In most cases, they occur during infancy and the first few months of a person’s life. 

Treatment of Achromatopsia

Treatment of achromatopsia is going to be focused and designed completely for the symptoms that they are suffering. This is because there is no treatment or cure for someone who is born with achromatopsia. 

Treating symptoms will require regular visits to an opthamologist. Many of the patients who suffer from photophobia may end up wearing filtering glasses or contacts. These red or brown tinted spectacles can reduce the seriousness of photophobia. Standard glasses can be used for people suffering from near or far sightedness. 

Ads related to