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

BACKGROUND AND PURPOSE: Autosomal 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 degenera...

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Publicado en:Retina
Autores principales: Sohn, Elliott H, Wang, Kai, Thompson, Stewart, Riker, Megan J, Hoffmann, Jeremy M, Stone, Edwin M, Mullins, Robert F
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5513174/
https://ncbi.nlm.nih.gov/pubmed/25077532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IAE.0000000000000263
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