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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.

Biotechnology company ProQR has announced that its clinical trials of sepofarsen for Leber congenital amaurosis type 10 and ultevursen for USH2A-mediated retinitis pigmentosa will be wound down with immediate effect.

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Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.

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• Usher syndrome

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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Disulfiram (Antabuse), FDA-approved for deterring alcohol, is in a phase 1 trial at the University of Washington to improve vision in retinitis pigmentosa.

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• Retinitis pigmentosa

Are you a parent or carer of a child or young person living with an inherited retinal dystrophy?

Genetic counsellors are specially trained healthcare professionals with extensive scientific knowledge who spend time talking to families living with inherited conditions.

We always aim to provide a high standard of service to our community. If you are unhappy with any of our services it is important that you let us know.

Genetic testing, usually via a blood sample, is used to try and identify which gene contains the fault that is causing an individual’s sight loss.

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

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