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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.
The project aims to develop a cost effective method of examining the entire ABCA4 gene to look for variations that might cause disease.
The team have found the cause of disease in the first ever family tree drawn up at Moorfields Eye Hospital over 35 years ago, which had remained unsolved until now.
A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million, enabling scientists to undertake more in-depth investigations and work towards a treatment for a particular type of retinitis pigmentosa.
Our community is informed and knowledgeable about current research projects into the cause(s) of and treatments for these conditions.
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Disulfiram (Antabuse), FDA-approved for deterring alcohol, is in a phase 1 trial at the University of Washington to improve vision in retinitis pigmentosa.
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
Researchers discovered a method to reduce Luxturna injection-related inflammation, improving safety and potentially preventing chorioretinal atrophy.
Stem cells are a special type of cell, which under the right conditions can be encouraged to grow into any other type of cell in the body, including retinal cells (rods, cones and retinal pigment epithelial cells).
