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Seven New Loci Associated with Age-Related Macular Degeneration
A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Expand
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. Expand
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress
The CFH polymorphism H402, which is strongly associated with AMD, markedly reduces the ability of CFH to bind MDA, indicating a causal link to disease aetiology. Expand
Systemic Complement Activation in Age-Related Macular Degeneration
This study is the first to show systemic complement activation in AMD patients, providing evidence for an association of systemic activation of the alternative complement pathway with genetic variants of CFH that were previously linked to AMD susceptibility. Expand
Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration.
- F. Holz, A. Bindewald-Wittich, M. Fleckenstein, J. Dreyhaupt, H. Scholl, S. Schmitz-Valckenberg
- American journal of ophthalmology
- 1 March 2007
The results indicate that distinct phenotypic FAF patterns have an impact on disease progression in eyes with atrophic AMD and may therefore serve as prognostic determinants. Expand
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
- A. Rivera, K. White, +8 authors B. Weber
- Biology, Medicine
- American journal of human genetics
- 1 October 2000
The proposed role for ABCA4 in age-related macular degeneration (AMD), a common cause of late-onset blindness, is assessed by studying 200 affected individuals with late-stage disease and using a screening strategy based primarily on denaturing gradient gel electrophoresis. Expand
High-resolution spectral domain-OCT imaging in geographic atrophy associated with age-related macular degeneration.
- M. Fleckenstein, P. Charbel Issa, +5 authors F. Holz
- Biology, Medicine
- Investigative ophthalmology & visual science
- 1 September 2008
SD-OCT imaging in eyes with GA revealed a wide spectrum of morphologic alterations, both in the surrounding retinal tissue and in the atrophic area, which may reflect different disease stages or, alternatively, heterogeneity on a cellular and molecular level. Expand
Fundus autofluorescence and progression of age-related macular degeneration.
This comprehensive review contains an introduction in fundus autofluorescence imaging, including basic considerations, the origin of the signal, different imaging methods, and a brief overview offundus aut ofluorescence findings in normal subjects. Expand
An update on the genetics of age-related macular degeneration
- H. Scholl, M. Fleckenstein, P. C. Issa, C. Keilhauer, F. Holz, B. Weber
- Biology, Medicine
- Molecular vision
- 7 February 2007
Variants within CFH and LOC387715/HTRA1 may contribute to the increased risk of late AMD largely through their impact on precursors, such as drusen and/or other RPE/Bruch's membrane changes. Expand
Macular telangiectasia type 2
The current knowledge on macular telangiectasia type 2 is summarized, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Expand