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CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.
Scholl HP, Fleckenstein M, Fritsche LG, Schmitz-Valckenberg S, Göbel A, Adrion C, Herold C, Keilhauer CN, Mackensen F, Mössner A, Pauleikhoff D, Weinberger AW, Mansmann U, Holz FG, Becker T, Weber BH. Scholl HP, et al. Among authors: pauleikhoff d. PLoS One. 2009 Oct 12;4(10):e7418. doi: 10.1371/journal.pone.0007418. PLoS One. 2009. PMID: 19823576 Free PMC article.
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: pauleikhoff d. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112
EFEMP1 is not associated with sporadic early onset drusen.
Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH. Sauer CG, et al. Among authors: pauleikhoff d. Ophthalmic Genet. 2001 Mar;22(1):27-34. doi: 10.1076/opge.22.1.27.2239. Ophthalmic Genet. 2001. PMID: 11262647
244 results