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Retina UK Knowledge-base: Refsum syndrome

Refsum syndrome

Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.

Knowledge-base: Alstrom syndrome

Alstrom syndrome

Alstrom syndrome is an inherited condition which affects many body systems.

Retina UK Knowledge-base: Achromatopsia

Achromatopsia

Achromatopsia is a rare hereditary vision disorder affecting approximately 1 in 30,000 newborn babies.

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Since we were founded in 1976, we have invested more than £16.5million into some of the most pioneering medical research - because of amazing supporters like you.

Funding paves the way for achromatopsia

A research project funded by Retina UK helped pave the way to a new gene therapy that has recently produced encouraging results in two young people with achromatopsia, a condition that causes complete colour-blindness and poor overall vision from birth.