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ProQR has published the top-line results from its Phase 2/3 “Illuminate” trial of the RNA therapy sepofarsen for Leber congenital amaurosis type 10 caused by a specific mutation in the CEP290 gene.
Choroideremia is a rare genetic condition resulting in progressive sight loss in men.
The project aims to develop a cost effective method of examining the entire ABCA4 gene to look for variations that might cause disease.
Jing Yu is a bioinformatician with the Eye Research Group at Oxford University, and is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team, funded by a Retina UK grant.
With all the interest in exciting gene and cell therapies for inherited sight loss, it’s easy to forget that more traditional drugs can also hold promise.
Researchers discovered a method to reduce Luxturna injection-related inflammation, improving safety and potentially preventing chorioretinal atrophy.
Autoimmune diseases are quite distinct from inherited retinal dystrophies.
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
Information for healthcare professionals: Genetic testing and counselling in inherited retinal disease
As a coalition of sight loss charities, we are calling on the Government to make the benefit system and employment support fit for purpose for blind and partially sighted people.
