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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.
Ranibizumab versus bevacizumab to treat neovascular age-related macular degeneration: one-year findings from the IVAN randomized trial.
The comparison of visual acuity at 1 year between bevacizumab and ranibizumabs was inconclusive, and other outcomes are consistent with the drugs and treatment regimens having similar efficacy and safety.
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.
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
A combination of positional and candidate gene methods are used to identify a single non-conservative mutation in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied, which may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.
Missense variations in the fibulin 5 gene and age-related macular degeneration.
- E. Stone, T. Braun, +6 authors V. Sheffield
- Biology, MedicineThe New England journal of medicine
- 22 July 2004
Seven of the 402 patients with AMD had amino acid-altering sequence variations in the fibulin 5 gene, whereas none were observed among 429 control subjects, which suggests that several of these variations may also be involved in AMD.
Mutations in the CRB1 gene cause Leber congenital amaurosis.
In this cohort of patients with LCA, coding sequence variations were observed in the CRB1 gene more frequently than in any of the other 5 known LCA-associated genes.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
The initial results of this retinal gene therapy trial are consistent with improved rod and cone function that overcome any negative effects of retinal detachment, and lend support to further assessment of gene therapy in the treatment of choroideremia and other diseases, such as age-related macular degeneration, for which intervention should ideally be applied before the onset ofretinal thinning.
Alternative treatments to inhibit VEGF in age-related choroidal neovascularisation: 2-year findings of the IVAN randomised controlled trial
The findings in the Inhibition of VEGF in Age-related choroidal Neovascularisation trial highlight that the choice of anti-VEGF treatment strategy is less straightforward than previously thought.
Central serous chorioretinopathy: an update on pathogenesis and treatment
Based on results of trials conducted so far, it appears that photodynamic therapy with verteporfin is effective and safer than argon laser treatment and should be considered as the treatment of choice, whereas micropulse diode laser photocoagulation seems to be an effective alternative.
Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study
A secondary high-density genotyping study across the SERPING1 gene region identified five additional SNP variants similarly associated with age-related macular degeneration that might implicate the classic pathway of complement activation in this disease.