Achromatopsia is often confused for being “color blind”. In truth, the term color blind can apply to many different conditions. The most common is often known as red/green color blind where people struggled to tell those two apart. Achromatopsia is a much more severe condition.
Achromatopsia is a severe form in which people are unable to see any colors. Their visual range looks like much old black and white television, seeing in grayscale only. In addition to the lack of colors, severe cases can also cause other troubling symptoms. This is a genetic disorder of the eyes. Achromatopsia can be found in complete and incomplete forms, which the complete form being more serious.
Causes of Achromatopsia
As mentioned, achromatopsia is a genetic disorder. There are several different genes which can be passed on from parents. Achromatopsia needs two mutated genes of the same type to be caused. This requires two parents who are carriers of the genes, or suffer from achromatopsia.
In a more obvious physical way, achromatopsia is caused by a physical defect in the retina. Most people know that the retina is made of rods and cones which transmit the visual impulses we see to the brain. People with achromatopsia suffer from dysfunction in the cone potion of the yee. In some cases, people with incomplete achromatopsia may have some slight function in the cones, which allows some viewing of color and less severe secondary symptoms.
Symptoms, Signs and Results of Achromatopsia
Obviously, the most obvious symptom of achromatopsia is the inability to see color and to only see in black, gray and white. However, there are several other issues and symptoms that sufferers need to handle. Some of these include:
- Photophobia - This is a severe sensitivity to light and can be very troublesome.
- Nystagmus - This is a symptom in which the eye will make involuntary movements back and forth without input from the brain.
- Low Visual Acuity - People with achromatopsia can suffer from issues seeing and low levels of clarity. Astigmatism can be a common form of blurred vision.
- Hyperopia/Myopia - These vision problems tend to appear early within the first few months of life for people with achromatopsia. It’s more common for the affected to be farsighted (hyperopia) then nearsighted.
Treating Achromatopsia
There is no cure available for achromatopsia. The good news is that as a genetic disorder, the research into genetics continues to be rapidly evolving and more information becomes available every day. With no cure, treatment has to instead revolve around dealing with the symptoms that affect people.
The eyes need to be protected. Dealing with the refractive issues from near/farsightedness will often come first. Prescription glasses will improve vision somewhat. However, it’s not likely these glasses will restore vision to full levels.
Sensitivity to light is a serious problem for many people, especially children. There are specific dark tints and red tinted glasses which can reduce the problem. These can be combined with prescription lenses to offer the best possible increase in vision.
It’s important to note that no matter what treatment is used, vision will never be perfect. Color won’t come back and the issues with light can be troublesome. Children with achromatopsia should speak with vision specialists. There are many low vision aids that can be used to assist in daily life. Learning to use vision services from an early age can really help.