Genetic susceptibility to HCQ associated retinopathy
Research type
Research Study
Full title
Investigation of genetic susceptibility to retinal toxicity in patients taking hydroxychloroquine
IRAS ID
258551
Contact name
Susan Downes
Contact email
Sponsor organisation
University of Oxford / Clinical Trials and Research Governance
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
HCQ (hydroxychloroquine) has been found to be a very effective drug for many rheumatological and dermatological conditions. Since its use is rarely associated with serious side-effects, it has become increasingly commonly used.
However, HCQ retinal toxicity has emerged as a problem with some individuals experiencing loss of central vision. Patients taking HCQ for over 5 years have a 7.5% of chance in developing central retinal damage, which increases to over 20% if HCQ continues to be taken for more than 20 years.
To reduce the risk, patients who have taken HCQ for over 5 years are now recommended to check their eyes every year. However, this approach is not ideal as it is expensive, costing NHS over 10 million British pounds every year according to our estimation; and the toxicity may still progress even after stopping HCQ treatment.
From our preliminary research, we found that it is very likely that there are genetic markers linked with increased risks in developing HCQ retinal toxicity. Finding these markers can be game changing, as they can be used to identify HCQ users who are susceptible to retinal toxicity, thus protecting them in a pre-emptive manner. In the meantime, it will also save NHS millions of pounds by not having to check the eyes of long-term HCQ users every year. Therefore in this study, we propose to recruit patients who are affected by HCQ retinal toxicity, and those who are not affected after taking HCQ for 15 years or more. We will look at their genomes with the aim to find the genetic markers that are linked to increased risks in developing HCQ retinal toxicity.REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
20/NW/0058
Date of REC Opinion
24 Jan 2020
REC opinion
Favourable Opinion