SCTM Publications

A sample of major publications from the SCTM and its affiliated researchers:

• Age-related macular degeneration: natural history revisited in geographic atrophy. Broadbent E, Künzel SH, Pfau M, Schmitz-Valckenberg S, Fleckenstein M. Eye (Lond). 2025 Feb;39(2):217-227.
• Informing Endpoints for Clinical Trials of Geographic Atrophy. Lad EM, Fleckenstein M, Holz FG, Shen L, Priore LVD, Silva R, Staurenghi G, Waheed N, Chakravarthy U. Annu Rev Vis Sci. 2024 Sep;10(1):455-476.
• [Use of artificial intelligence in geographic atrophy in age-related macular degeneration]. Chang P, von der Emde L, Pfau M, Künzel S, Fleckenstein M, Schmitz-Valckenberg S, Holz FG. Ophthalmologie. 2024 Aug;121(8):616-622.
• Levels of Complement Factor H-related 4 Protein Do Not Influence Susceptibility to Age-related Macular Degeneration or its Course of Progression. Zouache MA, Richards BT, Pappas CM, Anstadt RA, Liu J, Corsetti T, Matthews S, Seager NA, Schmitz-Valckenberg S, Fleckenstein M, Hubbard WC, Thomas J, Hageman JL, Williams BL, Hageman GS. Nat Commun. 2024 Jan 10;15(1):443.
• Age-Related Macular Degeneration: A Review. Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U. JAMA. 2024 Jan 9;331(2):147-157.
• Inter-Reader Agreement and Longitudinal Progression of Incomplete/Complete Retinal Pigment Epithelium and Outer Retinal Atrophy in AMD. Schmitz-Valckenberg S, Saßmannshausen M, Braun M, Steffen V, Gao SS, Honigberg L, Ferrara D, Pfau M, Holz FG. Ophthalmol Retina. 2023 Jul 28:S2468-6530(23)00354-8.
• Systems Genomics in Age-Related Macular Degeneration. den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. Exp Eye Res. 2022 Dec;225:109248.
• Association of Complement C3 Inhibitor Pegcetacoplan with Reduced Photoreceptor Degeneration Beyond Areas of Geographic Atrophy. Pfau M, Schmitz-Valckenberg S, Ribeiro R, Safaei R, McKeown A, Fleckenstein M, Holz FG. Sci Rep. 2022 Oct 25;12(1):17870.
• From Genes, Proteins, and Clinical Manifestation: Why Do We Need to Better Understand Age-Related Macular Degeneration? Schmitz-Valckenberg S, Zouache MA, Hageman GS, Fleckenstein M. Ophthalmol Sci. 2022 May 31;2(2):100174.
• Progression of Age-Related Macular Degeneration Among Individuals Homozygous for Risk Alleles on Chromosome 1 (CFH-CFHR5) or Chromosome 10 (ARMS2/HTRA1) or Both. Schmitz-Valckenberg S, Fleckenstein M, Zouache MA, Pfau M, Pappas C, Hageman JL, Agrón E, Malley C, Keenan TDL, Chew EY, Hageman GS. JAMA Ophthalmol. 2022 Mar 1;140(3):252-260.
• Age-Related Macular Degeneration. Fleckenstein M, Keenan TDL, Guymer RH, Chakravarthy U, Schmitz-Valckenberg S, Klaver CC, Wong WT, Chew EY. Nat Rev Dis Primers. 2021 May 6;7(1):31.
• Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci. Pappas CM, Zouache MA, Matthews S, Faust CD, Hageman JL, Williams BL, Richards BT, Hageman GS.Human Genomics. 2021 Sep 25;15(1):60.
• Chromosome 10q26-Driven Age-related Macular Degeneration is Associated with Reduced Levels of HTRA1 in Human Retinal Pigment Epithelium. Williams BL, Seager NA, Gardiner JD, Pappas C, Cronin MC, di San Filippo CA, Anstadt RA, Liu J, Toso M, Nichols L, Parnell TJ, Eve JR, Bartel PL, Zouache MA, Richards BT, and Hageman GS. Proceedings of the National Academy of Sciences of the United States of America. 2021 118 (30) e2103617118.
• Age-related macular degeneration. Fleckenstein M, Keenan TDL, Guymer RH, Chakravarthy U, Schmitz-Valckenberg S, Klaver CC, Wong WT, Chew EY. Nat Rev Dis Primers. 2021 May 6;7(1):31. doi: 10.1038/s41572-021-00265-2.
• AI-based structure-function correlation in age-related macular degeneration. von der Emde L, Pfau M, Holz FG, Fleckenstein M, Kortuem K, Keane PA, Rubin DL, Schmitz-Valckenberg S. Eye (Lond). 2021 Aug;35(8):2110-2118. doi: 10.1038/s41433-021-01503-3. Epub 2021 Mar 25.
• A Common Haplotype in the Complement Regulatory Gene Factor H (HF1/CFH) Predisposes Individuals to Age-Related Macular Degeneration. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. (2005). Proceedings of the National Academy of Sciences of the United States of America. 102(20), 7227-32.
• Macular Retinal Thickness Differs Markedly in Age-Related Macular Degeneration Driven by Risk Polymorphisms on Chromosomes 1 and 10. Zouache MA, Bennion A, Hageman JL, Pappas C, Richards BT, Hageman GS. Scientific Reports. 2020 Dec 3;10(1):21093.
• Assessment of Proteins Associated With Complement Activation and Inflammation in Maculae of Human Donors Homozygous Risk at Chromosome 1 CFH-to-F13B. Keenan TD, Toso M, Pappas C, Nichols L, Bishop PN, Hageman GS. Investigative Ophthalmology & Visual Science. 2015 Jul;56(8):4870-9. doi: 10.1167/iovs.15-17009. PMID: 26218915
• Variation in Factor B (BF) and Complement Component 2 (C2) Genes is Associated With Age-Related Macular Degeneration. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R. (2006). Nature Genetics. 38(4), 458-62.
• An Integrated Hypothesis that Considers Drusen as Biomarkers of Immune-Mediated Processes at the RPE-Bruch's Membrane Interface in Aging and Age-Related Macular Degeneration. Hageman GS, Luthert PJ, Victor Chong NH, Johnson LV, Anderson DH, Mullins RF. (2001). Progress in Retinal and Eye Research. 20(6), 705-32.
• The Pivotal Role of the Complement System in Aging and Age-Related Macular Degeneration: Hypothesis Re-Visited. Anderson DH, Radeke MJ, Gallo NB, Chapin EA, Johnson PT, Curletti CR, Hancox LS, Hu J, Ebright JN, Malek G, Hauser MA, Rickman CB, Bok D, Hageman GS, Johnson LV. (2010). Progress in Retinal and Eye Research. 29(2), 95-112.
• Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions. Hannan JP, Laskowski J, Thurman JM, Hageman GS, Holers VM. PLOS ONE. 2016 Nov 4;11(11):e0166200.
• Inclusion of Genotype With Fundus Phenotype Improves Accuracy of Predicting Choroidal Neovascularization and Geographic Atrophy. Perlee LT, Bansal AT, Gehrs K, Heier JS, Csaky K, Allikmets R, Oeth P, Paladino T, Farkas DH, Rawlings PL, Hageman GS. Ophthalmology. 2013 Sep;120(9):1880-92.
• Complement Factor H: Using Atomic Resolution Structure to Illuminate Disease Mechanisms. Barlow PN, Hageman GS, Lea SM. Advances in Experimental Medicine and Biology. 2008;632:117-42. PMID: 19025119; PMCID: PMC4863441.
• Rapid and Sensitive Method for Detection of Y402, H402, I62, and V62 Variants of Complement Factor H in Human Plasma Samples Using Mass Spectrometry. Kelly U, Rickman CB, Postel EA, Hauser MA, Hageman GS, Arshavsky VY, Skiba NP. (2009). Investigative Ophthalmology & Visual Science. 50(4), 1540-5.