• Principal Investigator/s: Dr Imre Lengyel & Prof. Julie-Anne Little

• Name of the Study: The REVEAL Study: The Eye In Down Syndrome As A Window To Alzheimer’s Disease

• Why is this Study important?

There is a major need for early identification of those at risk of Alzheimer’s Disease. People with Down syndrome are the largest patient group whose condition is associated with an increased risk of Alzheimer’s Disease. Recently, we investigated the lens of the eye, the light-sensing retina and the supporting choroid at the back of the eye in Down syndrome. We found evidence of early and unusual cataract formation and thickening of the tissue at the back of the eye compared to people without Down syndrome. These findings suggest inflammatory and/or accelerated ageing processes that could be connected with Alzheimer’s Disease development. The REVEAL study will investigate the presence of inflammatory and Alzheimer’s Disease markers and determine if there is a link between these and changes in eye structures. These new insights could lead to more accessible, non-invasive ways to monitor Alzheimer's Disease from the earliest possible stage.

• What is the Research question/aim?:

To investigate changes in eye structures in individuals with Down syndrome compared to patients with Mild Cognitive Impairment (MCI) and cognitively healthy individuals, and determine if these are associated with inflammatory markers linked with AD.

• What the Study involves:

If you agree to take part, you will be invited to come to the Northern Ireland Clinical Research Facility (Belfast City Hospital) for approximately 3 hours. First, to check that you are eligible to participate, we will ask you some questions about your eye and general health. Your vision will also be measured and you will be asked to complete some straightforward memory and behavioural tests. Next, we will take a series of photographs of the inside of your eyes. If you consent, we would also like to take tear, spit (saliva) and blood samples.

• Who can take part in the Study?
• Participants with Down syndrome, aged 6-50 years
• Control participants without Down syndrome, aged 50-80 years
• Non-Down syndrome participants with Mild Cognitive Impairment, aged 50-80 years

• Contact Information:

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