Achromatopsia is a rare inherited condition that causes sensitivity to bright light and loss of colour vision.

What is achromatopsia?

Achromatopsia is a rare inherited condition affecting about one in 30,000 to 40,000 people. It affects the cone photoreceptors which are the specialist light-sensing cells responsible for colour vision and vision in bright light.

What are the symptoms of achromatopsia?

Symptoms of the condition appear early in childhood and include:

  • Partial or total colour blindness
  • Reduced visual acuity (sharpness of vision)
  • Sensitivity to bright light (photophobia)
  • Shaking eyes (nystagmous)

Recently, researchers at Moorfields Eye Hospital and UCL Institute of Ophthalmology were able to show that achromatopsia is a ‘stable’ condition with progression over time being relatively slow and subtle. People with achromatopsia do not go completely blind from the condition.

What causes achromatopsia?

There are six genes which have been associated with achromatopsia: CNGB3 and CNGA3, which account for around 75% of all cases, as well as GNAT2, PDE6C, PDE6H and ATF6.

Achromatopsia treatment is available at Moorfields Private

You can self-fund or use private medical insurance to fund your treatment.

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