Imagine Christmas without colour.
The bright lights of Christmas hurt Avi's eyes, and he can't see all the colours of the festive season.
Imagine a life without colour
Avi Krishnan, 12, lives with achromatopsia, a rare inherited eye condition that means he sees the world in shades of grey.
He is one of nine children in the UK who have received pioneering gene therapy for the CNGA3 gene defect.
"I know I can't see any colour and in general I can't see as far away as other people can. And when it's very bright, it's a bit difficult to see.”
Imagine a world where gene therapies could treat rare conditions such as achromatopsia.
Researchers are developing gene therapies that would mean even in families affected by achromatopsia, children don't miss out.
The research that husband-and-wife team Matteo Rizzi and Kate Powell are doing now builds on earlier work into the condition and what we've learned from other Fight for Sight-funded projects.
At their lab at University College London, they are developing gene therapies that could restore sight and colour for people with eye conditions like achromatopsia.
FAQs about achromatopsia
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What is achromatopsia?
Achromatopsia is a rare inherited condition that affects the retina, the light-sensitive tissue located at the back of the eye.
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What are the different types of achromatopsia?
There are two main types of achromatopsia: complete and incomplete.
In complete achromatopsia, people have no cone cell function at all, resulting in reduced central vision and no colour vision.
Incomplete achromatopsia is a milder form of the condition where there is still some cone cell function, so you have limited colour vision. Other vision problems, such as light sensitivity, tend to be less severe than with complete achromatopsia.
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What causes achromatopsia
Achromatopsia is almost always an inherited condition.
It is caused by changes in one of several genes that contain the instructions for making proteins that play a crucial role in healthy cone cell function.
The most common genes involved are CNGB3 and CNGA3, which together account for around three out of four cases.
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Is achromatopsia serious?
Achromatopsia can cause severe vision impairment, especially if it's complete achromatopsia.
It can often affect the ability to carry out everyday activities.
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