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Progress towards treatments for inherited retinal conditions continues to gather pace and there’s been lots going on in the last few months, with more and more approaches being explored. This round-up gives a flavour of the variety of developments, including plenty that are not specific to a particular genetic fault.
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.
Your generous support allows Retina UK to fund the work of leading scientists who are increasing understanding of inherited sight loss and moving us closer to treatments.
With a significant proportion of inherited retinal conditions being caused by unidentified genetic faults, and many families unable to get clear results from genetic tests in clinic, the project set out to solve previously undiagnosable cases and discover more of the genes and mutations that are associated with sight loss.
Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything.
Emily Kearney is mum to four boys, aged four to 13, two of whom are living with an inherited sight loss condition.
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.
Steve has been volunteering for Retina UK since its formation in 1976 and has been a part of the Helpline team since the early 1980s.. He remembers very well a caller named Khadeja, who called the Helpline multiple times, following her diagnosis with RP in 1999.
My name is Mark Baxter and from an early age I was diagnosed with a deteriorating retinal eye condition called retinitis pigmentosa or RP for short, which will slowly lead to blindness.
Angus was part of #TeamRetinaUK in 2021 and is running again in 2024. In the run-up to the 2021 race, this is what he had to say:
