Affiliation: Tufts Medical Center
Yu Y, Triebwasser M, Wong E, Schramm E, Thomas B, Reynolds R, et al
. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014;23:5283-93 pubmed publisher
..This study represents an initial application of the whole-exome strategy to families with early-onset AMD. It successfully identified high impact alleles leading to clearer functional insight into AMD etiopathogenesis. ..
Seddon J, Reynolds R, Yu Y, Rosner B. Validation of a prediction algorithm for progression to advanced macular degeneration subtypes. JAMA Ophthalmol. 2013;131:448-55 pubmed publisher
..The risk prediction model was validated in an independent study of progression from no, early, or intermediate stages to advanced subtypes of AMD and will be useful for research, clinical trials, and personalized medicine. ..
Kavanagh D, Yu Y, Schramm E, Triebwasser M, Wagner E, Raychaudhuri S, et al
. Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Hum Mol Genet. 2015;24:3861-70 pubmed publisher
..Enhancing FI activity may be therapeutic and measuring FI provides a screening tool for identifying patients who are most likely to benefit from complement inhibitory therapy. ..
Merle B, Silver R, Rosner B, Seddon J. Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study. Am J Clin Nutr. 2015;102:1196-206 pubmed publisher
..Higher adherence to a Mediterranean diet was associated with reduced risk of progression to advanced AMD, which may be modified by genetic susceptibility. This trial was registered at clinicaltrials.gov as NCT00594672. ..
Sobrin L, Seddon J. Nature and nurture- genes and environment- predict onset and progression of macular degeneration. Prog Retin Eye Res. 2014;40:1-15 pubmed publisher
..Personalized medicine and individualized prevention and treatment strategies may become a reality in the near future. ..
Shah A, Williams S, Baumal C, Rosner B, Duker J, Seddon J. Predictors of Response to Intravitreal Anti-Vascular Endothelial Growth Factor Treatment of Age-Related Macular Degeneration. Am J Ophthalmol. 2016;163:154-166.e8 pubmed publisher
..There was a statistically significant reduction in central foveal thickness overall, and subjects with a low CFH risk score improved more than the high-risk group. ..
Seddon J, Reynolds R, Rosner B. Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. Invest Ophthalmol Vis Sci. 2009;50:586-91 pubmed publisher
..To evaluate the relationship between peripheral retinal drusen and reticular pigment changes and genotypes associated with age-related macular degeneration (AMD)...
Seddon J, Reynolds R, Maller J, Fagerness J, Daly M, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009;50:2044-53 pubmed publisher
..831 for progression to advanced AMD. Factors reflective of nature and nurture are independently related to prevalence and incidence of advanced AMD, with excellent predictive power. ..
Seddon J, Gensler G, Rosner B. C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration. Ophthalmology. 2010;117:1560-6 pubmed publisher
..4, 95% CI 1.4-21.1). High-sensitivity CRP and polymorphisms in the CFH and ARMS2/HTRA1 genes are independently associated with risk of AMD. Higher CRP level tends to confer a higher risk of AMD within most genotype groups. ..