Abstract: The invention is based, in part, upon the discovery of single nucleotide polymorphisms (SNPs) and haplotypes located in promoter and intronic sequences (e.g., intron 2) of the roundabout, axon guidance receptor, homolog 1 (ROBO1) gene that are significantly associated with age-related macular degeneration (AMD) risk. The invention relates to methods and compositions for determining whether an individual is at risk of developing age-related macular degeneration by detecting whether the individual has a protective or risk variant of the ROBO1 gene.

Abstract: The invention provides methods and compositions for determining whether a subject is at risk of developing age-related macular degeneration, for example, the wet or neovascular form of age-related macular degeneration. The method involves determining whether the subject has a protective variant and/or a risk variant at a polymorphic site in the RORA gene. A protective or risk variant may be defined by a haplotype in the RORA gene.

Abstract: The invention relates to allelic variants and haplotypes of the Complement Factor H (CFH) gene, the Complement Component 3 (C3) gene, and the Complement Factor D (CFD) gene, associated with either an elevated or a reduced risk that an individual will develop age-related macular degeneration (AMD), methods of diagnosing such risk in an individual based on the presence or absence of such variants, and methods and reagents for diagnosis and treatment of AMD.