x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
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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.
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.
Autosomal dominant inheritance
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
Research news round-up – Spring 2024
A round-up of the latest research into inherited retinal conditions - February 2024.
Antabuse moves into clinical trial for people with RP
Disulfiram (Antabuse), FDA-approved for deterring alcohol, is in a phase 1 trial at the University of Washington to improve vision in retinitis pigmentosa.
Brain stimulation may reduce hallucinations
UK researchers have discovered that passing a weak electrical current between electrodes on a person’s scalp may lead to a reduction in frequency of the visual hallucinations experienced by some people living with sight loss.
Amar Latif ‘delighted’ to be an ambassador for Retina UK
We are proud to announce that Amar Latif - adventurer, entrepreneur, TV presenter and public speaker - is to join Retina UK as a volunteer ambassador.
Meet a Researcher: Stéphanie Cornelis and Mubeen Khan
The project aims to develop a cost effective method of examining the entire ABCA4 gene to look for variations that might cause disease.
Thomas Pocklington Trust and Sight Loss Councils ‘Cut it back’ campaign
TPT and Sight Loss Councils: Cut it back campaign