Jay Self wearing scrubs.

Researchers study whether albinism could protect against AMD


23 August 2018

Researchers in Southampton are in the early stages of a pioneering study which aims to discover if albinism may protect against a leading cause of sight loss.

Despite age-related macular degeneration (AMD) affecting a quarter of people over 65 and half of people over 85, clinicians have very rarely, if ever, seen a patient with both conditions.

Now, Mr Jay Self, a consultant ophthalmologist at University Hospital Southampton NHS Foundation Trust, and his team are looking to recruit anyone over 65 with albinism to find out more.

The condition is caused by faulty genes that a child inherits from their parents and affects the production of melanin, the pigment that colours skin, hair and eyes.

People with albinism can have pale skin which burns easily in the sun, white hair, poor vision, a sensitivity to light and involuntary eye movements.

AMD, which causes a gradual loss of central vision, is the biggest cause of sight loss in the UK.

“It has been an odd observation for many years that no-one can ever remember seeing a case of AMD in someone with albinism – therefore, something is going on,” he said.

“So far, using various online resources and enquiries, we have amassed a grand total of seven people in the UK over 65 who report having albinism at all and none who have been given both diagnoses.”

Mr Self, who is also an associate professor of ophthalmology at the University of Southampton, said research has shown the retina loses function in older animals with albinism but this is not clear in humans.

“We have researched this topic extensively from the records available and have this interesting phenomenon which we need to know more about and investigate further.

“It has even been suggested that the albinism itself may ‘protect’ against AMD which would be a very important finding to aid further study into both conditions.”

Anyone who is interested in joining the study can contact Mr Self on email at [email protected] to find out more.

This project is part of a programme of work at UHS, led by Mr Self and Dr Helena Lee, looking for potential ways to treat albinism and nystagmus, a condition which causes the eyes to ‘wobble’ and creates strobe vision.

In a separate study within the programme, Dr Lee, was recently awarded a £1.4 million Medical Research Council (MRC) clinician scientist fellowship to investigate the role of levodopa – a drug more commonly used to treat Parkinson’s disease – in improving visual development in infants and young children with albinism.