Study of substances in blood suggests choroideremia is not just an isolated eye disease
Choroideremia is a rare genetic condition resulting in progressive sight loss in men.
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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.
A blog from the research coal face
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.
Drugs for cancer and alcoholism show promise for RP
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.
Limiting side effects from Luxturna treatment
Researchers discovered a method to reduce Luxturna injection-related inflammation, improving safety and potentially preventing chorioretinal atrophy.
Autoimmune Retinopathy
Autoimmune diseases are quite distinct from inherited retinal dystrophies.
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
For professionals
Information for healthcare professionals: Genetic testing and counselling in inherited retinal disease
Joint statement on benefits and employment support
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.
Hope for the future
In this article, we hear Colin's story and the reasons why he has hope for the future.