Achromatopsia is a rare, congenital colour vision defect characterised by a complete inability to distinguish colours. People affected by this condition see the world exclusively in shades of grey. The condition is caused by the absence or malfunction of the cones – the light-sensitive cells in the retina responsible for colour vision. In addition to total colour blindness, achromatopsia is usually associated with other symptoms, such as sensitivity to light (photophobia), nystagmus and significantly reduced visual acuity. The disease usually has a genetic basis and is inherited in an autosomal recessive manner. Diagnosis is based on colour vision tests, electroretinography and genetic testing. Symptomatic treatment includes the use of sunscreen, contact lenses to reduce photophobia and optical aids to improve visual acuity. There is currently no effective causal treatment. Achromatopsia significantly affects daily functioning and requires appropriate environmental adaptation of the patient.
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