DIAGNOSTIC AND THERAPEUTIC TARGET FOR MACULAR DEGENERATION

摘要

The present invention is based on the discovery of genetic polymorphisms that are associated with ocular diseases and disorders, such as age-related macular degeneration (AMD). In particular, the present invention relates to methods for determining an individuals susceptibility to ocular disorders such as AMD by screening for mutations and/or polymorphisms in the human complement factor H (CFH) gene or gene product that confer susceptibility to such disorders. Also encompassed in the present invention are nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of treatment following detection of susceptibility.