x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Search
Search results
Gene Therapy improves functional measures in XLRP
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.
Thomas Pocklington Trust and Sight Loss Councils ‘Cut it back’ campaign
TPT and Sight Loss Councils: Cut it back campaign
Trusts and Foundations
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.
New website aims to increase understanding of genetics
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.
Meet our volunteers: Martin Hills
Martin started volunteering for Retina UK in 2014 after retiring as a Chartered Civil Engineer.
Meet our community: James Clarke
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.
Significantly worse vision found in female carriers of X-linked RP and Choroideremia
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.
Genetic testing: an essential topic for discussion with the IRD community
As Luxturna reaches the clinic and other gene-specific therapies for inherited retinal disease get closer to the end of the development pipeline, it is becoming ever more important that affected families can access a genetic diagnosis, potentially opening up choices around treatment and clinical trial participation.
Grant from The National Lottery Community Fund
We regularly make applications for grants to fund our information and support projects and have recently been successful in securing £12,000 from The National Lottery Community Fund.