Macular Degeneration

Age-related macular degeneration (AMD) is the most common cause of visual loss in older Americans and a leading cause of blindness. Approximately 1.7 million of the 34 million people over the age of 65 in the United States experience vision loss from AMD. Heredity, diet, and environmental factors have been identified as risk factors for AMD in population studies. Genetic linkage studies recently identified loci containing AMD-causing genes on chromosomes 1 and 17. The goals of this study are to identify novel genes involved in the pathogenesis of AMD and localize additional genes for this complex trait. Specifically, we attempt to refine the localization of AMD-causing genes using allele and haplotype association employing single nucleotide polymorphisms. The refined critical regions will be used as starting points for candidate gene mutation scanning. The identification of genetic risk factors for AMD is an important step in understanding the pathophysiology of this debilitating condition.

This study is being performed in collaboration with Dr. Albert O. Edwards, M.D., Ph.D., Director, Schollmaier Macular Degeneration Laboratory, Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX

Faculty who conduct research in this area

Lindsay Farrer, Ph.D.
Gyungah Jun, Ph.D.

BU Spotlight Article

Genetic Key to Blindness

Selected Publications

Klein ML, Schultz DW, Edwards A, et al. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998 Aug;116(8):1082-8

Weeks DE, Conley YP, Mah TS, et al. A full genome scan for age-related maculopathy. Hum Mol Genet. 2000;9(9):1329-49

Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol. 2001;132(5):682-92.

Edwards AO, Ritter, III R, Abel K J, Manning A, Panhuysen C, Farrer L A. Complement Factor H Polymorphism and Age-Related Macular Degeneration. Science 2005 0: 1110189.

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September 16, 2010
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