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Achromatopsia

Achromatopsia is a condition that affects the cone cells in the retina. The retina is at the back of the eye and is responsible for processing the light travelling from the front of the eye into an image. The retina helps turn light into signals that your brain can understand, and that's how you see the world around you. 

Cones are photorecepter cells in the retina. They help you to see things in your central vision and are responsible for helping you to see in bright light conditions. They are responsible for colour vision and small details.

With Achromatopsia, you can have the following symptoms:

  • Problems seeing small details
  • Blurry vision, i.e. reduced acuity of vision
  • Partial or complete loss colour vision
  • Reduced contrast
  • Issues with mobility due to poor central vision
  • Sensitivity to bright light conditions
  • Nystagmus

For parents

How can I help my child with light sensitivity?

To better manage light sensitivity and glare in achromatopsia, many children find red, orange, or yellow tints beneficial. For physical activities, some children prefer tinted contact lenses over spectacles, as they provide more discreet effective relief from bright lights.

Functional benefits of tints

  • Wavelength Filtration: specialised red, orange, and yellow tints filter out high-energy blue and green light, typically in the 480–650 nm range. These are often referred to as “PLS” tints. These tints prevent the "bleaching" or saturation of the child’s remaining rod cells, which are the primary source of vision in children with achromatopsia and are extremely light-sensitive.
  • Increased Contrast & Detail: by reducing rod over-saturation and disability glare, these lenses enhance contrast sensitivity and visual acuity. This allows children to more easily distinguish shapes, objects, and text across diverse lighting environments, such as classrooms and playgrounds.
  • Advantages of Tinted Contact Lenses: these are ideal for sports and high-energy play because they do not leave gaps where peripheral glare can enter the eye. Many children also prefer the cosmetic appearance of tinted contacts over very dark-tinted glasses. Suitability of contact lens wear can be discussed with your optometrist, as they will provide guidance on proper hygiene protocols and the management of contact lens-related infection risks.

Common issues

Common issues we see in the Low Vision Clinic

Explaining a partial or total absence of colour vision can be challenging. Children may ask, “What do colours look like?”, and their ability to detect differences can vary significantly between individuals. 

In terms of application to daily life, children with achromatopsia rely heavily on high contrast to differentiate between materials. Because they often confuse colours within the same hue family, it is important to place objects against a highly contrasting background. For books and visual aids, using clear, well- spaced lines and uncluttered pictures significantly improves visibility.

Labelling colours with text or symbols can be helpful, and also allow the child to participate without feeling excluded. Focusing on the texture or outline of object scan also make differentiation easier. 

Resources

There are many organisations and charities with information, advice and social events for children with Achromatopsia: