Achromatopsia

Achromatopsia is a rare inherited condition in which the cone cells of the retina do not work, causing reduced vision, severe light sensitivity, and little or no colour perception.

Common symptoms

Extreme sensitivity to bright light, involuntary eye movements, reduced central vision, and partial or total inability to see colour.

Description

Achromatopsia is a genetic condition present from birth in which the cone cells of the retina, responsible for detailed and colour vision, either do not develop properly or do not function. Vision relies mainly on the rod cells, which work best in low light.

The condition is usually recognised in early infancy because of pronounced light sensitivity, nystagmus, and poor visual fixation. Most people with complete achromatopsia see the world in shades of grey, while those with incomplete forms may retain some limited colour perception.

There is currently no cure, but tinted or red-tinted contact lenses and glasses can dramatically reduce glare and improve comfort. Low vision aids, good environmental lighting, and ongoing gene therapy research offer further support and hope for the future.