Achromatopsia: A World In Black And White

Achromatopsia is a rare autosomal recessive retinal disorder characterized by color blindness, photophobia, and severely reduced visual acuity. The estimated prevalence worldwide is between 1 in 33,000 in its inherited form, although achromatopsia can also be acquired and caused by brain injury.

This rare neurological condition is poorly understood. The inability to perceive colors can cause problems especially at school.  Not understanding concepts such as color in school, in addition to reduced visual acuity and photophobia, can isolate them and increase the risk of school failure.

If we talk about the difference between having achromatopsia innately or caused by an injury, we have to say that losing a capacity that you have counted on all your life can be much more disabling. It is difficult to adapt to a new perception of the environment, which becomes grayish and strange.

Congenital achromatopsia

It is an inherited disease caused by the malfunction of the cones, color vision receptors and visual acuity. This causes that the person who suffers it is not able to distinguish or perceive colors and also has difficulties to see in situations in which there is a lot of light.

Regarding the perception of color, for now there is no solution that can help to perceive colors as people who do not suffer from achromatopsia do. Normally, they learn what the colors of each object are and although they know how to name them, they do not know them. His world is drawn in a shade of gray.

Real case: “the color-blind painter”

The case of the color-blind painter was described by the neurologist and science popularizer Oliver Sacks in his book “An Anthropologist on Mars.” This man suffered a traffic accident causing him, in addition to temporary amnesia, color blindness. Jonathan I. had enjoyed “normal” eyesight his entire life and suddenly he was not even able to reproduce colors in his imagination.

This event marked a before and after in Jonathan’s life, although with the passage of time the experience was transformed from highly negative to tolerable, even positive. At first, he described that his surroundings were perceived as something unpleasant, dirty, false and unnatural, everything was confusing and meaningless.

Little by little he began to enjoy his new perspective, especially at night. The clarity of daylight bothered him so he became a night owl person. He knew how to adapt to his new vision of the world and his new abilities like capturing more details in the dark. I transformed his work according to his new perspective and it was widely accepted in the art world.

Pingelap, the island of the color blind

Oliver Sacks traveled to an island called Pingelap, located in Micronesia, where  10% suffer from congenital achromatopsia. Knut Nordby, who also suffered from achromatopsia, traveled with him in order to help the inhabitants of this small island to cope with the disease and to share experiences with them.

The hereditary condition of this disease is one of the causes that would explain the incidence of achromatopsia is so high on this island. The theory to explain it is that a typhoon devastated the island, leaving very few survivors. Among them, there would be a carrier of the gene and the repopulation of the island, isolation and religion did the rest.

When one area of ​​the brain loses a capacity, cerebral plasticity, the rest of the areas try to supply this capacity, either by getting it to be carried out by creating “abnormal” neural circuits or by improving other capacities.

Thus, people with achromatopsia perceive movement, shape and contrasts more precisely. They also have better night vision, which is why they engage in night fishing and are considered valuable members in this community.