Search

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

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

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

Cataracts and macular oedema are both associated with inherited sight loss and may respond to treatment.

Support Retina UK this summer by organising a bag packing session at your local supermarket.

• Fundraising events
• United Kingdom

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.

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.

• News
• Achromatopsia

X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.

Beacon Therapeutics announced positive results from their phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene.

• News
• Retinitis pigmentosa