Achromatopsia - What is it and who is at risk?

There are a lot of conditions that can plague our eyes. Achromatopsia is one of them, causing visual impairment and affecting colour perception. It can present a significant challenge to people who are affected by it. 

What is Achromatopsia?

 Achromatopsia is a relatively rare eye condition, affecting one in 30,000 people, in which an individual experiences severe or complete colour blindness as well as other complications that can impact their visual acuity. This is due to the majority or all of the cone cells in the retina being non-functional or missing.

Since the cone cells are responsible for how we perceive brightness and colour, this condition affects the ability to see outdoors during day time and in other environments with a notable light source. There are two types of Achromatopsia - complete and incomplete.

Complete Achromatopsia stands for complete colour blindness. People with this form of the condition can only see black, white, gray and their variations. In this form of the condition, the cone cells in the retina are unable to process light or have deteriorated, leaving only the rod cells to function.

When it comes to Incomplete Achromatopsia, there is a nearly complete loss of colour perception, however colours can still be distinguished to a degree, as there are a number of functional cone cells left.


What causes Achromatopsia?

The primary source of this condition are genetic mutations. In most cases the mutated genes need to be passed down by both parents. There are however cases where the causes of the condition are unknown.

Achromatopsia can also appear if an individual experiences excessive damage from a head trauma that affects the part of the brain responsible for processing images. This can result in severe or complete loss of colour perception.


What are the symptoms of Achromatopsia?

There are a number of symptoms that people with Achromatopsia will experience and their severity can vary. People with incomplete Achromatopsia will naturally have less severe symptoms than those of people with the complete variation of the condition. Those are the most common ones:

  • High sensitivity to light. It is nearly impossible for people with Achromatopsia to walk outside, especially on a sunny day, without using any visual aids. Filter sunglasses can be especially helpful.
  • Since Achromatopsia is inherited and then developed at birth, Nystagmus can be another symptom, which is probably the earliest easy-to-spot sign that something might be wrong with the sight of the child.
  • Poor vision acuityas the ability to spot details is severely impaired.
  • Near or farsightedness can also be among the symptoms


Is there a treatment for Achromatopsia?

There is no cure or proven treatment for Achromatopsia, however there are several things that can help people who have this condition reduce its impact on their lives:

  1. Visual aids can largely help with Achromatopsia - Visual acuity and sensitivity to light can be largely controlled with glasses and special lenses. They are useful for controlling far and nearsightedness, which are other common symptoms of the condition. While they will not restore the vision of the individual, they can be of a significant help in managing the condition.
  2. For other symptoms like Nystagmus, there are available surgeries that can improve issues with shakiness in more severe cases.

For now science has not found an answer to treating Achromatopsia, however there are efforts being made towards making an efficient gene therapy.