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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.

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• Retinitis pigmentosa

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.

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Martin started volunteering for Retina UK in 2014 after retiring as a Chartered Civil Engineer.

• Case study - community
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• Written

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.

• Case study - community
• Written

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

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.

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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.

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The Retina UK community is sometimes targeted by adverts online or in social media, offering invasive treatments for inherited sight loss.

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