Article
Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.
Retina (Philadelphia, Pa.) - 1 Jan 2015
Sohn Elliott H, Wang Kai, Thompson Stewart, Riker Megan J, Hoffmann Jeremy M, Stone Edwin M, Mullins Robert F
Abstract excerpt
BACKGROUND: Autosomal dominant radial drusen (ADRD), also termed Malattia Leventinese and Doyne honeycomb retinal dystrophy, causes early-onset vision loss because of mutation in EFEMP1. Drusen in an exceedingly rare ADRD human donor eye was compared with eyes affected with age-related macular degeneration (AMD). This study also elucidated whether variations in high-risk AMD genotypes modify phenotypic severity...
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