Building on their previous discovery that people with Alzheimer's have beta-amyloid deposits that appear as unusual cataracts in the lens of the eye, a team of researchers led by Dr. Lee Goldstein at Boston University School of Medicine, has discovered that beta-amyloid also accumulates in the eyes of people with Down syndrome.
Down syndrome patients develop symptoms of Alzheimer's Disease often by the age of 30 because they have an extra copy of a key Alzheimer's gene (Amyloid Precursor Protein) that leads to increased beta-amyloid accumulation in the brain. This same protein that aggregates in the brain, also accumulates in the lens and leads to these unusual cataracts in Down syndrome. These cataracts are prevalent in people with Down syndrome and are sometimes seen at birth.
It is important to note that Alzheimer's Disease and Down Syndrome-associated cataracts are distinct from age-related cataracts, and typically localize in a different part of the lens. The discovery is leading the researchers to develop an innovative eye test for early detection of Alzheimer's pathology in both disorders.
Michael S. Rafii, MD, PhD
Associate Medical Director, ADCS
This post originally appeared in Alzheimer's Insights, an ADCS Blog.
*Moncaster J et al. Alzheimer's Disease Amyloid-ß Links Lens and Brain Pathology in Down Syndrome. PLoS ONE, 2010