Blind World

FFB-Sponsored Study Leads to Discovery of New AMD Gene.

October 21, 2003.
Foundation Fighting Blindness (FFB).

Owings Mills, MD.

An exciting gene discovery by a Foundation Fighting Blindness–funded researcher adds to the growing proof that macular degeneration can be hereditary. This is the first gene mutation found that is directly tied to age-related macular degeneration (AMD). The discovery of this gene mutation bolsters hope for a therapy to prevent and potentially cure AMD.

Dennis W. Schultz, Ph.D., of Casey Eye Institute of Oregon Health & Science University, with his colleague Michael Klein, M.D., and a team of researchers, reports the finding in an article to be published this December in Human Molecular Genetics. (An advance abstract of the report is available now online at the journal’s web site). The researchers describe a mutation of a gene called HEMICENTIN-1. The mutation was discovered in multiple generations of a large family with many members with AMD.

AMD is a progressive disease of the macula, the portion of the retina where central vision is the sharpest. Approximately one in four Americans 65 and older has AMD or is at significant risk for AMD. It is estimated that 42 million Americans will be living with the disease by the year 2030.

Gerald Chader, Ph.D., MD, hc, chief scientific officer of The Foundation, considers the discovery important and noteworthy. “I believe,” he states, “that it will lead to the detection of other AMD-causing genes and ultimately to treatments.” Funding by the Foundation Fighting Blindness led to earlier discoveries of genes responsible for macular degeneration, including the ABCR gene for Stargardt disease, a juvenile form of macular degeneration. Additionally, another FFB-funded researcher, found a greater likelihood of AMD among relatives of individuals with the ABCR gene in her studies of family members and of twins.

Gene therapy holds tremendous potential for treating retinal degenerative diseases. This was dramatically proven a couple of years ago in the dog “Lancelot.” He and his littermates, born blind with LCA (a form of retinitis pigmentosa, RP), had their functional vision restored through gene therapy.

Dr. Schultz’s research shows that a HEMICENTIN-1 mutation is only one contributor to AMD. “Although there is a definite risk due to inheritance,” said Dr. Chader, “we also know that environmental factors, such as cigarette smoking, diet and blood pressure can play a role.”

The Foundation Fighting Blindness ( is the largest non-governmental source of funding for retinal degenerative disease research in the world. With an “A” rating, The Foundation Fighting Blindness (FFB) is ranked as a “Top-Rated” charity by the American Institute of Philanthropy. FFB was designated in 2002 by Worth Magazine as one of the Best 100 Charities in the country.

©2003 Foundation Fighting Blindness. All rights reserved.

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