Genetic risk, ethnic variations and pharmacogenetic biomarkers in AMD and polypoidal choroidal vasculopathy

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Abstract

In recent years, there has been increasing evidence of ethnic differences in the epidemiology, risk factors, clinical presentation and manifestation of age-related macular degeneration (AMD). Although phenotypically very similar to AMD, polypoidal choroidal vasculopathy has a very different natural history, treatment response to anti-VEGF agents and photodynamic therapy and marked ethnic differences in disease prevalence. Despite these differences, there is supporting evidence, particularly from a genetics perspective, that links these two disease entities. In this review, the authors compare and contrast AMD and polypoidal choroidal vasculopathy with particular reference to ethnic variation, genetic disease risk assessment and potential for pharmacogenetic interventions. With advances in massively parallel next-generation sequencing and decreased cost of such technologies, investigators will be able to more thoroughly assess rare variants and their contribution to disease susceptibility.

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