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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.
Our community is informed and knowledgeable about current research projects into the cause(s) of and treatments for these conditions.
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.
TPT and Sight Loss Councils: Cut it back campaign
Inherited retinal dystrophies (IRDs) are the leading cause of blindness in working-age people in the UK, and children as young as eighteen-months are regularly diagnosed.
High quality information on genetic testing and counselling for families affected by inherited sight loss is now available in one place thanks to the launch of an innovative new website, Unlock Genetics.
Martin started volunteering for Retina UK in 2014 after retiring as a Chartered Civil Engineer.
Aged 20, James was diagnosed with retinitis pigmentosa at a routine eye appointment in September 2015 and registered partially sighted, just prior to buying his first car and taking his driving test.
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.
