University of Michigan Kellogg Eye Center | 1000 Wall Street, Ann Arbor, MI 48105 | 734.763.8122
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| Genetic Researcher finding clues
 What Is Macular Degeneration? Macular degeneration is a slow, relentless deterioration of central vision that cannot be corrected with glasses or surgery. The macula is the central area in the retina. As it degenerates, central vision often becomes progressively worse until there is no useful reading vision. According to Dr. Ayyagari, “Macular degeneration is one of the leading causes of blindness in the world, and, with an aging population, we will see more of this disease in the years ahead.” Thirteen million people in the U.S. now suffer from some form of macular degeneration, a number that is expected to increase to 45 million by 2030. With no cure currently available, scientists are looking to genetic research for answers. The Role of Inheritance Macular degeneration is a complex inherited disease whose many forms have puzzled researchers for decades. Although most people begin to suffer its effects only after the age of 60, there can be wide variation within a family. “One person will get the disease in his 20s, while his brother won’t be affected until his 50s,” observes Dr. Ayyagari. “Some family members have severe vision loss by the age of 15, while others have 20/20 vision well into their 50s.” Dr. Ayyagari hopes to clarify the role of genetics in the disease by studying large four- and five-generation families who suffer from the “early-onset” form. By selecting patients who begin to lose central vision in their early 40s instead of at age 60, she can collect more information about how the macula deteriorates over time. She is particularly interested in why members of a single family are affected at varying ages (or not at all) and uses a multi-generational chart or “pedigree” to give her a picture. “A genetic defect obviously exists,” she explains, “but something is protecting certain family members from the disease. If you can identify what stimulates the good gene, you can protect other family members.” By studying the disease across generations, Dr. Ayyagari hopes to get at the cause—and some day the cure—for macular degeneration. Impact on Families The families participating in the study come from the clinical practice of Kellogg ophthalmologists, one of whom, Dr. Paul Sieving, was recently named Director of the National Eye Institute at NIH. He notes the challenges of approaching an entire family about this sort of research. “When I give a patient a diagnosis of macular degeneration it can be devastating. The knowledge that other family members may develop this disease makes it more difficult. By participating in Dr. Ayyagari’s research, family members—both those currently diagnosed and those who may be diagnosed in the future—know they are doing something positive to help.” Research, Hope, Prevention The ultimate goal of Dr. Ayyagari’s research is to develop treatments that will delay the onset, slow the progression, or prevent the disease altogether. Paul R. Lichter, M.D., Director of the Kellogg Eye Center, says that “Dr. Ayyagari’s work is a perfect example of the kind of research that bridges the gap between work done in the laboratory and treatment for our patients. Her work on the genetics of macular degeneration will have far-reaching effects on our ability to prevent this devastating disease.” After identifying the gene or genes that cause macular degeneration, Dr. Ayyagari will eventually be able to develop a test to help diagnose individuals at risk for the disease. Dr. Ayyagari concludes, “Kellogg is grateful to the families who participate in this research and share their struggles with this disease. They, more than anyone, are aware of the importance of the work we are doing. We hope by the time the children of ‘our families’ turn 40 we will have a cure.” |
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University of Michigan Kellogg Eye Center | 1000 Wall Street, Ann Arbor, MI 48105 | 734.763.8122
Copyright © Regents of the University of Michigan |