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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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.
For professionals
Information for healthcare professionals: Genetic testing and counselling in inherited retinal disease
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.
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.
Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
Sirius clinical trial – Exon 13 mutation of USH2A
Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.
Disappointing news from ProQR clinical trial for LCA10
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.
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.
Hope for the future
In this article, we hear Colin's story and the reasons why he has hope for the future.