All Publications
Aguilera, N., Liu, T., Bower, A. J., Li, J., Abouassali, S., Lu, R., Giannini, J., Pfau, M., Bender, C., Smelkinson, M. G., Naik, A., Guan, B., Schwartz, O., Volkov, A., Dubra, A., Liu, Z., Hammer, D. X., Maric, D., Fariss, R., … Tam, J. (2022). Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics. Commun Biol, 5(1), 893. https://doi.org/10.1038/s42003-022-03842-7
Al-Sheikh, M., Akil, H., Pfau, M., & Sadda, S. R. (2016). Swept-source OCT angiography imaging of the foveal avascular zone and macular capillary network density in diabetic retinopathy. Invest Ophthalmol Vis Sci, 57(8), 3907–3913. https://doi.org/10.1167/iovs.16-19570
Al-Sheikh, M., Falavarjani, K. G., Pfau, M., Uji, A., Le, P. P., & Sadda, S. R. (2017). Quantitative features of the choriocapillaris in healthy individuals using swept-source optical coherence tomography angiography. Ophthalmic Surg Lasers Imaging Retina, 48(8), 623–631. https://doi.org/10.3928/23258160-20170802-04
Ameln, J., Reiniger, J. L., Hess, K., Holz, F. G., & Harmening, W. M. (2023). Supernormal foveal photoreceptor density in alport syndrome: A case report. Eur J Ophthalmol, 33(4), NP51–NP54. https://doi.org/10.1177/11206721221093197
Anders, P., Traber, G. L., Pfau, M., Riedl, S., Hagag, A. M., Camenzind, H., Mai, J., Kaye, R., Bogunovic, H., Fritsche, L. G., Rueckert, D., Schmidt-Erfurth, U., Sivaprasad, S., Lotery, A. J., & Scholl, H. P. N. (2023). Comparison of novel volumetric microperimetry metrics in intermediate age-related macular degeneration: PINNACLE study report 3. Transl Vis Sci Technol, 12(8), 21. https://doi.org/10.1167/tvst.12.8.21
Ansari, G., Giudici, N. L., Cancian, G., Rossouw, P., Rui, C., Rosso, A., Gazzina, S., Feltgen, N., Pfau, K., & Pfau, M. (2025). Validation and repeatability of differential light sensitivity measurements with the novel MAIA microperimetry device. Ophthalmol Sci, 5(6), 100886. https://doi.org/10.1016/j.xops.2025.100886
Ansari, G., Oertli, J., Mächler, L., Lipsky, T., Jeffrey, B. G., Cukras, C. A., Feltgen, N., Klaver, C. C. W., Pfau, K., & Pfau, M. (2026). Parafoveal dark adaptation in early and intermediate age-related macular degeneration. Invest Ophthalmol Vis Sci, 67(5), 74. https://doi.org/10.1167/iovs.67.5.74
Ansari, G., Schärer, N., Camenzind Zuche, H., Gabrani, C., Anders, P., Pfau, K., Valmaggia, P., Giani, A., Esmaeelpour, M., Chingning Yamaguchi, T., Prünte, C. F., Maloca, P. M., Schmetterer, L., Scholl, H. P. N., & Pfau, M. (2023). The optical coherence tomography and microperimetry biomarker evaluation in patients with geographic atrophy (OMEGA) study: Design and baseline characteristics - OMEGA report 1. Ophthalmic Res, 66(1), 1392–1401. https://doi.org/10.1159/000535375
Ansari, G., Schärer, N., Pfau, K., Valmaggia, P., Gabrani, C., Zuche, H., Giani, A., Esmaeelpour, M., Yamaguchi, T. C., Feltgen, N., Maloca, P. M., Schmetterer, L., Scholl, H. P. N., & Pfau, M. (2025). Evaluating the progression of retinal sensitivity loss in geographic atrophy using machine-learning-based structure-function correlation (OMEGA 2). Invest Ophthalmol Vis Sci, 66(11), 34. https://doi.org/10.1167/iovs.66.11.34
Behning, C., Fleckenstein, M., Pfau, M., Adrion, C., Goerdt, L., Lindner, M., Schmitz-Valckenberg, S., Holz, F. G., & Schmid, M. (2021). Modeling of atrophy size trajectories: Variable transformation, prediction and age-of-onset estimation. BMC Med Res Methodol, 21(1), 170. https://doi.org/10.1186/s12874-021-01356-0
Bindewald-Wittich, A., Dolar-Szczasny, J., Kuenzel, S. H., Emde, L. von der, Pfau, M., Rejdak, R., Schmitz-Valckenberg, S., Ach, T., Dreyhaupt, J., & Holz, F. G. (2023). Blue-light fundus autofluorescence imaging of pigment epithelial detachments. Eye (Lond), 37(6), 1191–1201. https://doi.org/10.1038/s41433-022-02076-5
Bindewald-Wittich, A., Milojcic, C., Pfau, M., & Holz, F. G. (2019). Bilateral multifocal pigment epithelial detachments associated with inhaled corticosteroids. Ophthalmologe, 116(9), 887–892. https://doi.org/10.1007/s00347-018-0848-0
Birtel, J., Gliem, M., Hess, K., Birtel, T. H., Holz, F. G., Zechner, U., Bolz, H. J., & Herrmann, P. (2020). Comprehensive geno- and phenotyping in a complex pedigree including four different inherited retinal dystrophies. Genes (Basel), 11(2), 137. https://doi.org/10.3390/genes11020137
Birtel, T. H., Birtel, J., Hess, K., Clemens, A. C., Lindner, M., Herrmann, P., Holz, F. G., & Gliem, M. (2021). Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol, 259(12), 3597–3604. https://doi.org/10.1007/s00417-021-05233-w
Broadbent, E., Künzel, S. H., Pfau, M., Schmitz-Valckenberg, S., & Fleckenstein, M. (2025). Age-related macular degeneration: Natural history revisited in geographic atrophy. Eye (Lond), 39(2), 217–227. https://doi.org/10.1038/s41433-024-03443-0
Chan, E. J., Anders, P., Garobbio, S. A., Hall, U., Gabrani, C., Pfau, K., Camenzind Zuche, H., Futterknecht, S., Pfau, M., Herzog, M., Traber, G. L., & Scholl, H. P. N. (2024). Retinal sensitivity in macular subfields and their association with contrast sensitivity in early and intermediate age-related macular degeneration. Ophthalmic Res, 67(1), 458–469. https://doi.org/10.1159/000540312
Chang, P., Emde, L. von der, Pfau, M., Künzel, S., Fleckenstein, M., Schmitz-Valckenberg, S., & Holz, F. G. (2024). Use of artificial intelligence in geographic atrophy in age-related macular degeneration. Ophthalmologie, 121(8), 616–622. https://doi.org/10.1007/s00347-024-02080-y
Charbel Issa, P., De Silva, S. R., Pfau, K., & Birtel, J. (2025a). Correction: Differential diagnosis of age-related macular degeneration. Klin Monbl Augenheilkd, 242(1), e1. https://doi.org/10.1055/a-2524-5086
Charbel Issa, P., De Silva, S. R., Pfau, K., & Birtel, J. (2025b). Differential diagnosis of age-related macular degeneration. Klin Monbl Augenheilkd, 242(1), 7–21. https://doi.org/10.1055/a-2327-8597
Charbel Issa, P., & Hess, K. (2022). The complexity of visual dysfunction in patients with pseudoxanthoma elasticum. Eye (Lond), 36(3), 492–494. https://doi.org/10.1038/s41433-021-01858-7
Dave, A. D., Hess, K., Chen, K. G., Wiley, H., Keenan, T. D. L., Agrón, E., Chew, E. Y., & Cukras, C. A. (2022). Investigations of renal function and age-related macular degeneration phenotypes. Transl Vis Sci Technol, 11(12), 11. https://doi.org/10.1167/tvst.11.12.11
De Silva, T., Hess, K., Grisso, P., Thavikulwat, A. T., Wiley, H., Keenan, T. D. L., Chew, E. Y., Jeffrey, B. G., & Cukras, C. A. (2022). Deep learning-based modeling of the dark adaptation curve for robust parameter estimation. Transl Vis Sci Technol, 11(10), 40. https://doi.org/10.1167/tvst.11.10.40
Dieck, S., Ibarra, M., Moghul, I., Yeung, M. W., Pantel, J. T., Thiele, S., Pfau, M., Fleckenstein, M., Pontikos, N., & Krawitz, P. M. (2020). Factors in color fundus photographs that can be used by humans to determine sex of individuals. Transl Vis Sci Technol, 9(7), 8. https://doi.org/10.1167/tvst.9.7.8
Domdei, N., Reiniger, J. L., Pfau, M., Charbel Issa, P., Holz, F. G., & Harmening, W. M. (2017). Histology of the living eye : Noninvasive microscopic structure and functional analysis of the retina with adaptive optics. Ophthalmologe, 114(3), 206–214. https://doi.org/10.1007/s00347-016-0411-9
Duic, C., Mukherjee, S., Pfau, K., Thavikulwat, A., Domalpally, A., Keenan, T. D. L., Chew, E., & Cukras, C. (2024). Local and global associations of reticular pseudodrusen in age-related macular degeneration. Ophthalmol Retina, 8(7), 646–656. https://doi.org/10.1016/j.oret.2024.01.016
Duic, C., Pfau, K., Keenan, T. D. L., Wiley, H., Thavikulwat, A., Chew, E. Y., & Cukras, C. (2023). Hyperreflective foci in age-related macular degeneration are associated with disease severity and functional impairment. Ophthalmol Retina, 7(4), 307–317. https://doi.org/10.1016/j.oret.2022.11.006
Emde, L. von der, Guymer, R. H., Pfau, M., Caruso, E., Sivarajah, P., Hodgson, L. A. B., McGuinness, M. B., Sloan, K. R., & Wu, Z. (2021). Natural history of quantitative autofluorescence in intermediate age-related macular degeneration. Retina, 41(4), 694–700. https://doi.org/10.1097/IAE.0000000000002923
Emde, L. von der, Künzel, S. H., Pfau, M., Morelle, O., Liermann, Y., Chang, P., Pfau, K., Thiele, S., & Holz, F. G. (2024). Use of artificial intelligence for recognition of biomarkers in intermediate age-related macular degeneration. Ophthalmologie, 121(8), 609–615. https://doi.org/10.1007/s00347-024-02078-6
Emde, L. von der, Pfau, M., Dysli, C., Thiele, S., Möller, P. T., Lindner, M., Schmid, M., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2019). Artificial intelligence for morphology-based function prediction in neovascular age-related macular degeneration. Sci Rep, 9(1), 11132. https://doi.org/10.1038/s41598-019-47565-y
Emde, L. von der, Pfau, M., Holz, F. G., Fleckenstein, M., Kortuem, K., Keane, P. A., Rubin, D. L., & Schmitz-Valckenberg, S. (2021). AI-based structure-function correlation in age-related macular degeneration. Eye (Lond), 35(8), 2110–2118. https://doi.org/10.1038/s41433-021-01503-3
Emde, L. von der, Pfau, M., Thiele, S., Möller, P. T., Hassenrik, R., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2019). Mesopic and dark-adapted two-color fundus-controlled perimetry in choroidal neovascularization secondary to age-related macular degeneration. Transl Vis Sci Technol, 8(1), 7. https://doi.org/10.1167/tvst.8.1.7
Emde, L. von der, Rennen, G. C., Vaisband, M., Hasenauer, J., Liegl, R., Fleckenstein, M., Pfau, M., Holz, F. G., & Ach, T. (2024a). Impact of lens autofluorescence and opacification on retinal imaging. BMJ Open Ophthalmol, 9(1), e001628. https://doi.org/10.1136/bmjophth-2023-001628
Emde, L. von der, Rennen, G. C., Vaisband, M., Hasenauer, J., Liegl, R., Fleckenstein, M., Pfau, M., Holz, F. G., & Ach, T. (2024b). Personalized lens correction improves quantitative fundus autofluorescence analysis. Invest Ophthalmol Vis Sci, 65(3), 13. https://doi.org/10.1167/iovs.65.3.13
Emde, L. von der, Thiele, S., Pfau, M., Nadal, J., Meyer, J., Möller, P. T., Schmid, M., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2020). Assessment of exudative activity of choroidal neovascularization in age-related macular degeneration by OCT angiography. Ophthalmologica, 243(2), 120–128. https://doi.org/10.1159/000503609
Enzendorfer, M. L., Mai, J., Riedl, S., Bogunovic, H., Menten, M. J., Rueckert, D., Fritsche, L. G., Prevost, A. T., Sivaprasad, S., Pfau, M., Scholl, H. P. N., Lotery, A. J., Sacu, S., & Schmidt-Erfurth, U. (2025). Functional outcomes across high-risk OCT-based phenotypes in intermediate age-related macular degeneration-PINNACLE study report 11. Invest Ophthalmol Vis Sci, 66(15), 54. https://doi.org/10.1167/iovs.66.15.54
Fang, P. P., Pfau, M., Holz, F. G., & Finger, R. P. (2017). Persistent visual loss in dengue fever due to outer retinal damage. Clin Exp Ophthalmol, 45(7), 747–749. https://doi.org/10.1111/ceo.12960
Fleckenstein, M., Grassmann, F., Lindner, M., Pfau, M., Czauderna, J., Strunz, T., Strachwitz, C. von, Schmitz-Valckenberg, S., Holz, F. G., & Weber, B. H. F. (2016). Distinct genetic risk profile of the rapidly progressing diffuse-trickling subtype of geographic atrophy in age-related macular degeneration (AMD). Invest Ophthalmol Vis Sci, 57(6), 2463–2471. https://doi.org/10.1167/iovs.15-18593
Fleckenstein, M., Thiele, S., Pfau, M., Schmitz-Valckenberg, S., & Holz, F. G. (2019). Dry age-related macular degeneration - epidemiology and classification. Klin Monbl Augenheilkd, 236(9), 1068–1075. https://doi.org/10.1055/a-0958-9621
Foa, N., Pfau, M., Ansari, G., Cancian, G., Grimaldi, G., Koller, S., Berger, W., Escher, P., Janeschitz-Kriegl, L., Rivolta, C., Scholl, H. P. N., & Menghini, M. (2025). Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype. Ophthalmologica, 248(3), 175–184. https://doi.org/10.1159/000545606
Freiberg, F. J., Pfau, M., Wons, J., Wirth, M. A., Becker, M. D., & Michels, S. (2016). Optical coherence tomography angiography of the foveal avascular zone in diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol, 254(6), 1051–1058. https://doi.org/10.1007/s00417-015-3148-2
Futterknecht, S., Anders, P., Mai, J., Riedl, S., Hall, U., Gabrani, C., Pfau, K., Menten, M. J., Rueckert, D., Prevost, A. T., Bogunovic, H., Fritsche, L. G., Schmidt-Erfurth, U., Sivaprasad, S., Lotery, A., Scholl, H. P. N., & Pfau, M. (2025). Targeted microperimetry grids for focal lesions in intermediate AMD: PINNACLE study report 7. Invest Ophthalmol Vis Sci, 66(2), 6. https://doi.org/10.1167/iovs.66.2.6
Garweg, J. G., Baglivo, E., Freiberg, F. J., Pfau, M., Pfister, I. B., Michels, S., & Zandi, S. (2016). Response of postoperative and chronic uveitic cystoid macular edema to a dexamethasone-based intravitreal implant (ozurdex). J Ocul Pharmacol Ther, 32(7), 442–450. https://doi.org/10.1089/jop.2016.0035
Garzone, D., Terheyden, J. H., Morelle, O., Wintergerst, M. W. M., Saßmannshausen, M., Schmitz-Valckenberg, S., Pfau, M., Thiele, S., Poor, S., Leal, S., Holz, F. G., & Finger, R. P. (2022). Comparability of automated drusen volume measurements in age-related macular degeneration: A MACUSTAR study report. Sci Rep, 12(1), 21911. https://doi.org/10.1038/s41598-022-26223-w
Garzone, D., Terheyden, J. H., Morelle, O., Wintergerst, M. W. M., Saßmannshausen, M., Schmitz-Valckenberg, S., Pfau, M., Thiele, S., Poor, S., Leal, S., Holz, F. G., & Finger, R. P. (2023). Author correction: Comparability of automated drusen volume measurements in age-related macular degeneration: A MACUSTAR study report. Sci Rep, 13(1), 3795. https://doi.org/10.1038/s41598-023-30360-1
Giger, J. A. W., Ansari, G., Terry, S. F., Charbel Issa, P., Pfau, K., & Pfau, M. (2025). Measurement reliability and functional validity of bruch’s membrane calcification in pseudoxanthoma elasticum: PROPXE study report 2. Invest Ophthalmol Vis Sci, 66(14), 29. https://doi.org/10.1167/iovs.66.14.29
Goerdt, L., Berger, M., Jungblut, J., Rodriguez Garcia, J. L., Pfau, K., Herrmann, P., Holz, F. G., & Wintergerst, M. W. M. (2024). Skeleton density and ellipsoid zone loss are prognostic for progression in macular telangiectasia type 2. Sci Rep, 14(1), 17328. https://doi.org/10.1038/s41598-024-67801-4
Goerdt, L., Raming, K., Rodriguez Garcia, J. L., Pfau, K., Holz, F. G., & Herrmann, P. (2024). Ellipsoid zone recovery in macular telangiectasia type 2. Retina, 44(8), 1413–1421. https://doi.org/10.1097/IAE.0000000000004108
Goerdt, L., Rodriguez Garcia, J. L., Künzel, S. H., Pfau, K., Raming, K., Tzaridis, S., Schmid, M., Holz, F. G., Isselmann, B., Weinhold, L., & Thiele, S. (2024). Prognostic relevance of relative ellipsoid zone reflectivity for ellipsoid zone loss in macular telangiectasia type 2. Invest Ophthalmol Vis Sci, 65(14), 36. https://doi.org/10.1167/iovs.65.14.36
Grassmann, F., Harsch, S., Brandl, C., Kiel, C., Nürnberg, P., Toliat, M. R., Fleckenstein, M., Pfau, M., Schmitz-Valckenberg, S., Holz, F. G., Chew, E. Y., Swaroop, A., Ratnapriya, R., Klein, M. L., Mulyukov, Z., Zamiri, P., & Weber, B. H. F. (2019). Assessment of novel genome-wide significant gene loci and lesion growth in geographic atrophy secondary to age-related macular degeneration. JAMA Ophthalmol, 137(8), 867–876. https://doi.org/10.1001/jamaophthalmol.2019.1318
Guymer, R. H., Rosenfeld, P. J., Ehlers, J. P., Attar, M., Chen, H., Ferris, F., Fujimoto, J. G., Ip, M., Pfau, M., Saßmannshausen, M., Shen, J., Zacks, D. N., Zyl, T. van, Wu, Z., & Jaffe, G. J. (2025). Designing the next generation of clinical trials in intermediate AMD-a consensus driven, pragmatic, proof of concept early intervention study. Exp Eye Res, 255, 110340. https://doi.org/10.1016/j.exer.2025.110340
Heeren, T. F. C., Tzaridis, S., Bonelli, R., Pfau, M., Fruttiger, M., Okada, M., Egan, C., Charbel Issa, P., & Holz, F. G. (2019). Dark-adapted two-color fundus-controlled perimetry in macular telangiectasia type 2. Invest Ophthalmol Vis Sci, 60(5), 1760–1767. https://doi.org/10.1167/iovs.18-25360
Hess, K., Charbel Issa, P., Holz, F. G., & Tzaridis, S. (2022). Morphological characteristics preceding exudative neovascularisation secondary to macular telangiectasia type 2. Br J Ophthalmol, 106(12), 1736–1741. https://doi.org/10.1136/bjophthalmol-2020-318470
Hess, K., Gliem, M., Birtel, J., Müller, P., Hendig, D., Andrews, C., Murray, I. J., Holz, F. G., & Charbel Issa, P. (2020). Impaired dark adaptation associated with a diseased bruch membrane in pseudoxanthoma elasticum. Retina, 40(10), 1988–1995. https://doi.org/10.1097/IAE.0000000000002689
Hess, K., Gliem, M., Charbel Issa, P., Birtel, J., Müller, P. L., Emde, L. von der, Herrmann, P., Holz, F. G., & Pfau, M. (2020). Mesopic and scotopic light sensitivity and its microstructural correlates in pseudoxanthoma elasticum. JAMA Ophthalmol, 138(12), 1272–1279. https://doi.org/10.1001/jamaophthalmol.2020.4335
Hess, K., Park, Y. J., Kim, H.-A., Holz, F. G., Charbel Issa, P., Yoon, Y. H., & Tzaridis, S. (2023). Tamoxifen retinopathy and macular telangiectasia type 2: Similarities and differences on multimodal retinal imaging. Ophthalmol Retina, 7(2), 101–110. https://doi.org/10.1016/j.oret.2022.08.004
Hess, K., Pfau, M., Wintergerst, M. W. M., Loeffler, K. U., Holz, F. G., & Herrmann, P. (2020). Phenotypic spectrum of the foveal configuration and foveal avascular zone in patients with alport syndrome. Invest Ophthalmol Vis Sci, 61(2), 5. https://doi.org/10.1167/iovs.61.2.5
Hess, K., Raming, K., Charbel Issa, P., Herrmann, P., Holz, F. G., & Pfau, M. (2023). Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. Br J Ophthalmol, 107(4), 570–575. https://doi.org/10.1136/bjophthalmol-2021-320088
Hess, K., Raming, K., Gliem, M., Charbel Issa, P., Herrmann, P., Holz, F. G., & Pfau, M. (2022). Choriocapillaris flow signal impairment in sorsby fundus dystrophy. Ophthalmologica, 245(3), 265–274. https://doi.org/10.1159/000520931
Hess, K., Silva, T. de, Grisso, P., Wiley, H., Thavikulwat, A. T., Keenan, T. D. L., Chew, E. Y., & Cukras, C. A. (2022). Evaluation of cone- and rod-mediated parameters in dark adaptation testing as outcome measures in age-related macular degeneration. Ophthalmol Retina, 6(12), 1173–1184. https://doi.org/10.1016/j.oret.2022.05.018
Huang, A., Wu, Z., Ansari, G., Von Der Emde, L., Pfau, M., Schmitz-Valckenberg, S., Fleckenstein, M., Keenan, T. D. L., Sadda, S. R., Guymer, R. H., Cheung, C. M. G., & Chakravarthy, U. (2025). Geographic atrophy: Understanding the relationship between structure and function. Asia Pac J Ophthalmol (Phila), 14(3), 100207. https://doi.org/10.1016/j.apjo.2025.100207
Huss, M. B., Schmitz-Valckenberg, S., Finger, R. P., Löffler, K. U., Fleckenstein, M., Holz, F. G., & Pfau, M. (2021). The willingness of patients to participate in an eye donation registry for research. Ophthalmologica, 244(3), 179–186. https://doi.org/10.1159/000513722
Jauch, A. S., Saßmannshausen, M., Chang, P., Emde, L. von der, Pfau, M., Holz, F. G., & Ach, T. (2025). Progression assessment for geographic atrophy. Ophthalmologie, 122(10), 773–781. https://doi.org/10.1007/s00347-025-02318-3
Jeffrey, B. G., Flynn, O. J., Huryn, L. A., Pfau, M., & Cukras, C. A. (2022). Scotopic contour deformation detection reveals early rod dysfunction in age-related macular degeneration with and without reticular pseudodrusen. Invest Ophthalmol Vis Sci, 63(6), 23. https://doi.org/10.1167/iovs.63.6.23
Jolly, J. K., Nanda, A., Buckley, T. M. W., Pfau, M., Bridge, H., & MacLaren, R. E. (2023). Assessment of scotopic function in rod-cone inherited retinal degeneration with the scotopic macular integrity assessment. Transl Vis Sci Technol, 12(2), 10. https://doi.org/10.1167/tvst.12.2.10
Kaminska, K., Cancellieri, F., Quinodoz, M., Moye, A. R., Bauwens, M., Lin, S., Janeschitz-Kriegl, L., Hayman, T., Barberán-Martínez, P., Schlaeger, R., Van den Broeck, F., Ávila Fernández, A., Fernández-Caballero, L., Perea-Romero, I., García-García, G., Salom, D., Mazzola, P., Zuleger, T., Poths, K., … Rivolta, C. (2025). Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy. Am J Hum Genet, 112(4), 808–828. https://doi.org/10.1016/j.ajhg.2025.02.015
Karaca, I., Wei, Y., Nelson, R., Sassen, S. H., Daynes, K., Clark, F., Brown, T., Messina, A., Pfau, M., Zhang, Y., Schmitz-Valckenberg, S., & Fleckenstein, M. (2025). Association of mesopic and dark-adapted retinal sensitivity with type 1 macular neovascularization in age-related macular degeneration. Invest Ophthalmol Vis Sci, 66(15), 45. https://doi.org/10.1167/iovs.66.15.45
Karuntu, J. S., Pfau, M., Jolly, J. K., & Boon, C. J. F. (2025). Test-retest variability of mesopic microperimetry-associated parameters in patients with retinitis pigmentosa: REPEAT study report no. 2. Acta Ophthalmol, 103(3), 313–326. https://doi.org/10.1111/aos.16780
Kellner, U., & Pfau, K. (2025). Inherited retinal disorders: Clinical and molecular genetic diagnostic. Klin Monbl Augenheilkd, 242(6), 677–697. https://doi.org/10.1055/a-2274-5801
Khateri, P., Koottungal, T., Wong, D., Strauss, R. W., Janeschitz-Kriegl, L., Pfau, M., Schmetterer, L., & Scholl, H. P. N. (2025). Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in stargardt disease. Sci Rep, 15(1), 4739. https://doi.org/10.1038/s41598-025-85213-w
Künzel, S. H., Broadbent, E., Möller, P. T., Lindner, M., Goerdt, L., Czauderna, J., Schmitz-Valckenberg, S., Holz, F. G., Pfau, M., & Fleckenstein, M. (2023). Impact of lesion location and functional parameters on vision-related quality of life in geographic atrophy secondary to AMD. In medRxiv. https://doi.org/10.1101/2023.09.22.23295946
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Pfau, K., Deutsch, A., Németh, R., Fuhrmann, C., & Holz, F. G. (2026). From phase i-IV-correctly understand and assess study designs in ophthalmology. Ophthalmologie. https://doi.org/10.1007/s00347-026-02474-0
Pfau, K., Gross, O., Bemme, S., Meyer, P., Take, P., Boeckhaus, J., Holz, F. G., & Feltgen, N. (2023). Ocular alterations in patients with alport syndrome-an update. Ophthalmologie, 120(6), 645–651. https://doi.org/10.1007/s00347-022-01805-1
Pfau, K., Holz, F. G., & Pfau, M. (2025). Pseudoxanthoma elasticum (PXE)-the eye as a diagnostic key. Ophthalmologie, 122(6), 421–423. https://doi.org/10.1007/s00347-025-02256-0
Pfau, K., Jeffrey, B. G., & Cukras, C. A. (2023). Low-dose supplementation with retinol improves retinal function in eyes with age-related macular degeneration but without reticular pseudodrusen. Retina, 43(9), 1462–1471. https://doi.org/10.1097/IAE.0000000000003840
Pfau, K., & Kellner, U. (2025). Inherited retinal disorders: Current therapeutic options and future perspectives. Klin Monbl Augenheilkd, 242(11), 1133–1151. https://doi.org/10.1055/a-2521-4616
Pfau, K., Lengyel, I., Ossewaarde-van Norel, J., Leeuwen, R. van, Risseeuw, S., Leftheriotis, G., Scholl, H. P. N., Feltgen, N., Holz, F. G., & Pfau, M. (2024). Pseudoxanthoma elasticum - genetics, pathophysiology, and clinical presentation. Prog Retin Eye Res, 102, 101274. https://doi.org/10.1016/j.preteyeres.2024.101274
Pfau, K., Lommatzsch, A., Lange, C., Schüler, A., & Kellner, U. (2026). Seltene vaskuläre erkrankungen der netzhaut – teil 2. Klin Monbl Augenheilkd. https://doi.org/10.1055/a-2878-5961
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Pfau, M., Cukras, C. A., Huryn, L. A., Zein, W. M., Ullah, E., Boyle, M. P., Turriff, A., Chen, M. A., Hinduja, A. S., Siebel, H. E., Hufnagel, R. B., Jeffrey, B. G., & Brooks, B. P. (2022). Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight, 7(2), e155373. https://doi.org/10.1172/jci.insight.155373
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Pfau, M., Fassnacht-Riederle, H. M., Freiberg, F. J., Wons, J. B., Wirth, M., Becker, M. D., & Michels, S. (2016a). Correction for: Switching therapy from ranibizumab and/or bevacizumab to aflibercept in neovascular age-related macular degeneration (AMD): One-year results. Klin Monbl Augenheilkd, 233(8), e3. https://doi.org/10.1055/s-0042-115798
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Pfau, M., Fassnacht-Riederle, H., Becker, M. D., Graf, N., & Michels, S. (2015). Clinical outcome after switching therapy from ranibizumab and/or bevacizumab to aflibercept in central retinal vein occlusion. Ophthalmic Res, 54(3), 150–156. https://doi.org/10.1159/000439223
Pfau, M., Goerdt, L., Schmitz-Valckenberg, S., Mauschitz, M. M., Mishra, D. K., Holz, F. G., Lindner, M., & Fleckenstein, M. (2017). Green-light autofluorescence versus combined blue-light autofluorescence and near-infrared reflectance imaging in geographic atrophy secondary to age-related macular degeneration. Invest Ophthalmol Vis Sci, 58(6), BIO121–BIO130. https://doi.org/10.1167/iovs.17-21764
Pfau, M., Holz, F. G., & Müller, P. L. (2021). Retinal light sensitivity as outcome measure in recessive stargardt disease. Br J Ophthalmol, 105(2), 258–264. https://doi.org/10.1136/bjophthalmol-2020-316201
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Pfau, M., Jolly, J. K., Wu, Z., Denniss, J., Lad, E. M., Guymer, R. H., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2021). Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials. Prog Retin Eye Res, 82, 100907. https://doi.org/10.1016/j.preteyeres.2020.100907
Pfau, M., Künzel, S. H., Pfau, K., Schmitz-Valckenberg, S., Fleckenstein, M., & Holz, F. G. (2023). Multimodal imaging and deep learning in geographic atrophy secondary to age-related macular degeneration. Acta Ophthalmol, 101(8), 881–890. https://doi.org/10.1111/aos.15796
Pfau, M., Lindner, M., Fleckenstein, M., Finger, R. P., Rubin, G. S., Harmening, W. M., Morales, M. U., Holz, F. G., & Schmitz-Valckenberg, S. (2017). Test-retest reliability of scotopic and mesopic fundus-controlled perimetry using a modified MAIA (macular integrity assessment) in normal eyes. Ophthalmologica, 237(1), 42–54. https://doi.org/10.1159/000453079
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Pfau, M., Lindner, M., Goerdt, L., Thiele, S., Nadal, J., Schmid, M., Schmitz-Valckenberg, S., Sadda, S. R., Holz, F. G., & Fleckenstein, M. (2019). Prognostic value of shape-descriptive factors for the progression of geographic atrophy secondary to age-related macular degeneration. Retina, 39(8), 1527–1540. https://doi.org/10.1097/IAE.0000000000002206
Pfau, M., Lindner, M., Müller, P. L., Birtel, J., Finger, R. P., Harmening, W. M., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2017). Effective dynamic range and retest reliability of dark-adapted two-color fundus-controlled perimetry in patients with macular diseases. Invest Ophthalmol Vis Sci, 58(6), BIO158–BIO167. https://doi.org/10.1167/iovs.17-21454
Pfau, M., Lindner, M., Steinberg, J. S., Thiele, S., Brinkmann, C. K., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2018). Visual field indices and patterns of visual field deficits in mesopic and dark-adapted two-colour fundus-controlled perimetry in macular diseases. Br J Ophthalmol, 102(8), 1054–1059. https://doi.org/10.1136/bjophthalmol-2017-311012
Pfau, M., Michels, S., Binder, S., & Becker, M. D. (2015). Clinical experience with the first commercially available intraoperative optical coherence tomography system. Ophthalmic Surg Lasers Imaging Retina, 46(10), 1001–1008. https://doi.org/10.3928/23258160-20151027-03
Pfau, M., Möller, P. T., Künzel, S. H., Emde, L. von der, Lindner, M., Thiele, S., Dysli, C., Nadal, J., Schmid, M., Schmitz-Valckenberg, S., Holz, F. G., & Fleckenstein, M. (2020). Type 1 choroidal neovascularization is associated with reduced localized progression of atrophy in age-related macular degeneration. Ophthalmol Retina, 4(3), 238–248. https://doi.org/10.1016/j.oret.2019.09.016
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Pfau, M., Sahu, S., Rupnow, R. A., Romond, K., Millet, D., Holz, F. G., Schmitz-Valckenberg, S., Fleckenstein, M., Lim, J. I., Sisternes, L. de, Leng, T., Rubin, D. L., & Hallak, J. A. (2021). Probabilistic forecasting of anti-VEGF treatment frequency in neovascular age-related macular degeneration. Transl Vis Sci Technol, 10(7), 30. https://doi.org/10.1167/tvst.10.7.30
Pfau, M., Schmitz-Valckenberg, S., Holz, F. G., & Fleckenstein, M. (2022). Re: Trivizki et al. Local geographic atrophy growth rates not influenced by close proximity to non-exudative type 1 macular neovascularization. Invest Ophthalmol Vis Sci, 63(5), 10. https://doi.org/10.1167/iovs.63.5.10
Pfau, M., Schmitz-Valckenberg, S., Ribeiro, R., Safaei, R., McKeown, A., Fleckenstein, M., & Holz, F. G. (2022). Association of complement C3 inhibitor pegcetacoplan with reduced photoreceptor degeneration beyond areas of geographic atrophy. Sci Rep, 12(1), 17870. https://doi.org/10.1038/s41598-022-22404-9
Pfau, M., Walther, G., Emde, L. von der, Berens, P., Faes, L., Fleckenstein, M., Heeren, T. F. C., Kortüm, K., Künzel, S. H., Müller, P. L., Maloca, P. M., Waldstein, S. M., Wintergerst, M. W. M., Schmitz-Valckenberg, S., Finger, R. P., & Holz, F. G. (2020). Artificial intelligence in ophthalmology : Guidelines for physicians for the critical evaluation of studies. Ophthalmologe, 117(10), 973–988. https://doi.org/10.1007/s00347-020-01209-z
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