Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

• Published in: Retina (Philadelphia, Pa.) Vol. 35; no. 1; p. 48
• Main Authors: Sohn, Elliott H, Wang, Kai, Thompson, Stewart, Riker, Megan J, Hoffmann, Jeremy M, Stone, Edwin M, Mullins, Robert F
• Format: Journal Article
• Language: English
• Published: United States 01.01.2015
• Subjects: Adult; Aged; Aged, 80 and over; Alleles; Collagen Type IV - metabolism; Complement Factor H - genetics; Corneal Dystrophies, Hereditary - genetics; Corneal Dystrophies, Hereditary - metabolism; Corneal Dystrophies, Hereditary - pathology; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - metabolism; Female; Genotyping Techniques; High-Temperature Requirement A Serine Peptidase 1; Humans; Male; Middle Aged; Optic Disk Drusen - congenital; Polymorphism, Single Nucleotide; Proteins - genetics; Retinal Drusen - genetics; Retinal Drusen - metabolism; Retinal Drusen - pathology; Serine Endopeptidases - genetics; Serum Amyloid P-Component - metabolism; Tissue Donors; Vitronectin - metabolism; Wet Macular Degeneration - genetics; Wet Macular Degeneration - metabolism; Wet Macular Degeneration - pathology; Young Adult

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...