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. Communications Biology, 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. Investigative Ophthalmology & Visual Science, 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 Surgery, 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. European Journal of Ophthalmology, 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. Translational Vision Science & Technology, 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. Ophthalmology Science, 5(6), 100886. https://doi.org/10.1016/j.xops.2025.100886
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 Research, 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). Investigative Ophthalmology & Visual Science, 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 Medical Research Methodology, 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 (London, England), 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]. Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 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, 11(2). 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. Graefe’s Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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 (London, England), 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 Research, 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]. Die 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]. Klinische Monatsblatter Fur Augenheilkunde, 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. Klinische Monatsblatter Fur Augenheilkunde, 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 (London, England), 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. Translational Vision Science & Technology, 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. Translational Vision Science & Technology, 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. Translational Vision Science & Technology, 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]. Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 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. Ophthalmology. 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. Ophthalmology. 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 (Philadelphia, Pa.), 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]. Die 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. Scientific Reports, 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 (London, England), 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. Translational Vision Science & Technology, 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 Ophthalmology, 9(1). 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. Investigative Ophthalmology & Visual Science, 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. Journal International d’ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 243(2), 120–128. https://doi.org/10.1159/000503609
Fang, P. P., Pfau, M., Holz, F. G., & Finger, R. P. (2017). Persistent visual loss in dengue fever due to outer retinal damage. Clinical & Experimental Ophthalmology, 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). Investigative Ophthalmology & Visual Science, 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]. Klinische Monatsblatter Fur Augenheilkunde, 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. Journal International d’ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 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. Graefe’s Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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. Investigative Ophthalmology & Visual Science, 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). Journal of Ocular Pharmacology and Therapeutics : The Official Journal of the Association for Ocular Pharmacology and Therapeutics, 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. Scientific Reports, 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. Scientific Reports, 13(1), 3795. https://doi.org/10.1038/s41598-023-30360-1
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. Scientific Reports, 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 (Philadelphia, Pa.), 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. Investigative Ophthalmology & Visual Science, 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 Ophthalmology, 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. Experimental Eye Research, 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. Investigative Ophthalmology & Visual Science, 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. The British Journal of Ophthalmology, 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 (Philadelphia, Pa.), 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 Ophthalmology, 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. Ophthalmology. 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. Investigative Ophthalmology & Visual Science, 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. The British Journal of Ophthalmology, 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. Journal International d’ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 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. Ophthalmology. 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-Pacific Journal of Ophthalmology (Philadelphia, Pa.), 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. Journal International d’ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 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]. Die 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. Investigative Ophthalmology & Visual Science, 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. Translational Vision Science & Technology, 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-Martı́nez, P., Schlaeger, R., Van den Broeck, F., Fernández, A. Ávila, Fernández-Caballero, L., Perea-Romero, I., Garcı́a-Garcı́a, 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. American Journal of Human Genetics, 112(4), 808–828. https://doi.org/10.1016/j.ajhg.2025.02.015
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 Ophthalmologica, 103(3), 313–326. https://doi.org/10.1111/aos.16780
Kellner, U., & Pfau, K. (2025). [Inherited retinal disorders: Clinical and molecular genetic diagnostic]. Klinische Monatsblatter Fur Augenheilkunde, 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. Scientific Reports, 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. medRxiv : The Preprint Server for Health Sciences. https://doi.org/10.1101/2023.09.22.23295946
Künzel, S. H., Broadbent, E., Möller, P. T., Lindner, M., Goerdt, L., Czauderna, J., Schmitz-Valckenberg, S., Holz, F. G., Pfau, M., & Fleckenstein, M. (2024). Association of lesion location and functional parameters with vision-related quality of life in geographic atrophy secondary to age-related macular degeneration. Ophthalmology. Retina, 8(8), 794–803. https://doi.org/10.1016/j.oret.2024.01.025
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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]. Die Ophthalmologie, 120(6), 645–651. https://doi.org/10.1007/s00347-022-01805-1
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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 (Philadelphia, Pa.), 43(9), 1462–1471. https://doi.org/10.1097/IAE.0000000000003840
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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. Progress in Retinal and Eye Research, 102, 101274. https://doi.org/10.1016/j.preteyeres.2024.101274
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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 Research, 54(3), 150–156. https://doi.org/10.1159/000439223
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Pfau, M., Holz, F. G., & Müller, P. L. (2021). Retinal light sensitivity as outcome measure in recessive stargardt disease. The British Journal of Ophthalmology, 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. Progress in Retinal and Eye Research, 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 Ophthalmologica, 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. Journal International d’ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 237(1), 42–54. https://doi.org/10.1159/000453079
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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. Investigative Ophthalmology & Visual Science, 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. The British Journal of Ophthalmology, 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 Surgery, 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. Ophthalmology. Retina, 4(3), 238–248. https://doi.org/10.1016/j.oret.2019.09.016
Pfau, M., Müller, P. L., Emde, L. von der, Lindner, M., Möller, P. T., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2020). MESOPIC AND DARK-ADAPTED TWO-COLOR FUNDUS-CONTROLLED PERIMETRY IN GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION. Retina (Philadelphia, Pa.), 40(1), 169–180. https://doi.org/10.1097/IAE.0000000000002337
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. Translational Vision Science & Technology, 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. Investigative Ophthalmology & Visual Science, 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. Scientific Reports, 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]. Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 117(10), 973–988. https://doi.org/10.1007/s00347-020-01209-z
Pfau, M., Zein, W. M., Huryn, L. A., Cukras, C. A., Jeffrey, B. G., Hufnagel, R. B., & Brooks, B. P. (2023). Genotype-phenotype association in ABCA4-associated retinopathy. Advances in Experimental Medicine and Biology, 1415, 289–295. https://doi.org/10.1007/978-3-031-27681-1_42
Pondorfer, S. G., Heinemann, M., Wintergerst, M. W. M., Pfau, M., Strömer, A. L., Holz, F. G., & Finger, R. P. (2020). Detecting vision loss in intermediate age-related macular degeneration: A comparison of visual function tests. PloS One, 15(4), e0231748. https://doi.org/10.1371/journal.pone.0231748
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