Dr. Grossman’s Blog

Researchers at the University of Pennsylvania School of Medicine have created the first animal model of age-related macular degeneration (AMD) caused by a mutation known to produce disease in people.

AMD is the most common cause of vision loss in elderly people, affecting more than 10 million people in the U.S. and about 50 million world-wide. Because AMD develops late in life (patients typically show symptoms of AMD after age 60), it is a difficult condition to investigate.

Although some forms of AMD are inherited, one type is thought to be caused by a mutation in the Efemp1 gene. Researchers introduced the disease-causing mutation into the Efemp1 gene of mice. These Efemp1-mutant mice develop the same basal deposits as people with AMD.

It is believed that these mice will provide a means to study how basal deposits form and what they are made of. The mice can also be used to test potential treatments to prevent basal deposit formation.

“To better develop treatments for preventing the progression of AMD, we need to understand the real biochemical details of how AMD occurs,” says lead author Eric A. Pierce, MD, PhD, Associate Professor of Ophthalmology at Penn’s K.M Kirby Center for Molecular Ophthalmology. “To do that, we need a model, and now we have one.”

Learn more about age-related macular degeneration (AMD)

Read other studies about macular degeneration

SOURCE: Model To Study Age-related Macular Degeneration Could Pave Way For Better Treatment, Pierce et al, University of Pennsylvania School of Medicine (2007, October 10).