Investigation of genetic susceptibility to retinal toxicity in patients taking hydroxychloroquine

Research summary

Hydroxychloroquine (HCQ) is widely used for joint and skin disorders. It is also being investigated for the possible prevention and/or treatment of COVID19 [1]. However in some patients long-term HCQ use, for joint and skin disorders, can lead to the retina (part of the eye) becoming damaged (HCQ retinopathy), leading to irreversible blindness. In the UK, regular retinal screening is recommended for those taking HCQ, costing the NHS millions per year. Unfortunately, this only identifies the problem after it has started. We will use a genetic testing approach to identify patients prone to HCQ retinopathy. We will compare the genetic profile of those who develop retinopathy with those who do not. By identifying genetic markers in the affected group compared to the unaffected group, a genetic screening tool can be developed. This will enable the prevention of HCQ retinopathy, and would eliminate the need for expensive retinal screening.

Principal Investigator

Prof Susan Downes

Contact us

Email: ERGO@ouh.nhs.uk

IRAS number

258551