Macular Degeneration Research
Kang Zhang, M.D., Ph.D.
University of Utah
Salt Lake City, UT
Title: Gene Mapping for Stargardt's Macular Degeneration
Duration: April 1, 2002 - March 31, 2003
Award Type: Standard
Award Amount: $50,000
Stargardt's macular dystrophy (STGD) is a common childhood onset form of macular dystrophy characterized by the progressive loss of central vision during the first and second decades of life. STGD has been genetically linked to age-related macular degeneration (AMD). Dr. Zhang is performing a genetic study of three large families affected with STGD to identify the underlying disease-causing gene(s). His preliminary data excluded any known genes previously associated with STGD as playing a role in the disease in these families. He is now continuing his investigation using standard genomic methodology to identify new gene(s) that may be involved in Stargardt's macular dystrophy. The identification of new genes that are responsible for a disease is a key step towards understanding its pathogenesis. The natural history and clinical features of the disease can then be investigated for diagnostic purposes. The discovery of these genes will also help to identify family members that might be at risk for the disease before it strikes and provide information for designing new treatments.
Yang, Z., Lin, W., Moshfehgi, D.M., Thirumalaichary, S., Zhang, H., Kaiser, P.K., Traboulsi, E., and Zhang, K. (2003) A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. American Journal of Ophthalmology. 135(2):213-218.