AMD Study

Age-Related Macular Degeneration (AMD) and other Macular Disorders

Etiologic Studies of Age-Related Macular Degeneration

Family Studies of Age-Related Macular Degeneration

Definition: AMD is a retinal degenerative disease that causes a progressive loss of central vision. AMD is the most common cause of vision loss in individuals age 60 years and older. Juvenile onset forms of macular degeneration, like Stargardt and Best disease, also can cause severe loss of vision.

Target Population: Individuals with macular degeneration (wet or dry) and spouses, siblings and adult children (with or without AMD), including age-related and juvenile onset forms of macular degeneration.

Duration: On-going since 1989.

Purpose and Protocol: The purpose of this research study is to determine the causes of macular degeneration so we can prevent it and find better treatments. We will continue to identify genes and environmental determinants of macular degeneration. Eligible study participants will have an eye exam and blood draw. Participants will also complete questionnaires on diet and risk factors.

Discoveries by our research team and collaborators

Lifestyle Factors: We found that smoking increases risk of AMD, lutein and zeaxanthin (carotenoids) and dark green leafy vegetables in the diet reduce risk of AMD, omega-3 fatty acids, fish and nuts reduce risk, trans fats increase risk, overall and abdominal obesity increase risk, and exercise reduces risk of macular degeneration.

Genetic Factors: Our team discovered novel common and rare genetic variants associated with AMD including two new variants in the CFH gene; Complement Component 3 (C3), Complement Factor I (CFI), Complement Component 9, Hepatic Lipase C (LIPC), a gene in the high density lipoprotein cholesterol (HDL) pathway associated with reduced risk of AMD; other genes in the HDL pathway associated with AMD including ABCA1 and CETP; TIMP3, a gene related to a juvenile onset type of macular degeneration also raises susceptibility to AMD: VEGF-A in the angiogenesis pathway, and genes in the extracellular matrix pathway called COL10A1 and COL8A1.

Biomarkers: C-reactive protein in the blood, a marker of systemic inflammation, is increased in patients with AMD; other complement proteins in plasma (in the inflammatory pathway) are associated with AMD; higher total cholesterol and higher LDL levels increase risk of AMD, and higher HDL reduces risk.



Project Manager
Ophthalmic Epidemiology and Genetics Service
New England Eye Center
Tufts Medical Center
800 Washington Street #450
Boston, MA 02111
617-636-9000 or toll free: 800-219-9157

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