Age Related Macular Degeneration (AMD) is a complex neurodegenerative disorder accounting for 50% of blind registrations in the western world. Its substantial impact on quality of life has been a main driver in research to understand its etiology, which up until recently was mostly unknown. In the last three years our understanding of the molecular pathology of AMD has increased dramatically with the identification of two major AMD loci comprising of, Complement Factor H (CFH) and a chromosome 10q26 locus consisting of the Heat Shock Serine Protease (HTRA1) and LOC387715 genes. These two loci have been described as associated with over 50% of disease in certain ethnicities. The rapid pace in our understanding of the complex biology of this disease has placed a large emphasis on gene patenting, especially with the licensing of the CFH and chromosome 10 patents to a private life science company called Optherion Inc. The patents discussed in this review highlight the important discoveries that have contributed to our understanding of AMD and provide valuable information as to where research in this area will be heading in the future.
Keywords: Age related macular degeneration, complement factor h, genetic markers, single nucleotide polymorphism, biomarkers, diagnostic, copy number variation
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