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The University of Southampton
Medicine

New study to examine whether albinism could protect against sight loss condition

Published: 29 August 2018
age-related macular degeneration
Could albinism protect against a leading cause of sight loss?

Researchers at the University of 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, an associate professor of ophthalmology at the University and 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 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 j.e.self@soton.ac.uk to find out more.

 

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