Autosomal recessive inheritance
Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss
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Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
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.
Our volunteers are highly valued members of the Retina UK team and their roles are essential to help support and enable people affected by inherited sight loss to live fulfilling lives.
We want to ensure our current and future activities are relevant and that they respond to your needs. The only way we can be confident of this is to ask about your experiences, views and what matters to you.
We’re all still buzzing from our recent conferences. We do hope you enjoyed them as much as we did. If you weren’t able to join us, then you can watch or listen to the recordings on our website.
Including a gift to Retina UK in your Will is an incredibly special way to help our vital work continue into the future.
Biotechnology company ProQR has announced encouraging results from its phase 1/2 clinical trial of an innovative treatment for sight loss caused by faults in a specific section of the USH2A gene.
The BBC World Service has undertaken an investigation of unproven treatments for retinitis pigmentosa (RP) and has produced a documentary film, called Blind Faith, which is available on BBC iPlayer.
Disulfiram (Antabuse), FDA-approved for deterring alcohol, is in a phase 1 trial at the University of Washington to improve vision in retinitis pigmentosa.