Comparison of Drusen and Modifying Genes in Autosomal Dominant Radial Drusen and Age-Related Macular Degeneration

摘要

Background and PurposeAutosomal dominant radial drusen (ADRD), aka Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy, causes early-onset vision loss due to mutation in EFEMP1. We compared drusen in an exceedingly rare ADRD human donor eye to eyes affected with age-related macular degeneration (AMD). We also elucidated whether variations in high-risk AMD genotypes modify phenotypic severity of ADRD.