Annual Review 2024
A heartfelt thank you!
We would like to sincerely thank all study participants who were part of our research this year. Your commitment has made a valuable contribution to the advancement of scientific knowledge.
Again this year we published our results with great care in renowned, peer‑reviewed journals. You can find an overview of our publications at the following link.
Below we present a summary of our three most important works from 2024.
We look forward to welcoming you again in our studies next year and are available to answer any questions at any time.
We wish you Merry Christmas and a successful New Year!
Maximilian Pfau, Kristina Pfau (née Hess)
Our three most important publications in 2024
1. Most comprehensive review of Pseudoxanthoma elasticum
Pfau, K., Lengyel, I., Ossewaarde‑van Norel, J., van Leeuwen, R., 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, 101274. https://doi.org/10.1016/j.preteyeres.2024.101274
Background: PXE is a rare autosomal recessive multisystem disorder. This work provides a comprehensive overview of the genetics, pathophysiology and clinical presentation of PXE.
Innovation: The study highlights the current state of knowledge on PXE and particularly addresses the role of ABCC6 mutations and their impact on the calcification of elastic fibres in various organ systems.
Significance: This work provides a valuable resource for researchers and clinicians dealing with PXE and represents a milestone in the literature on this complex disease.
2. Largest normative data set for fundus‑controlled visual field testing
Pfau, M., Jolly, J. K., Charng, J., von der Emde, L., Müller, P. L., Ansari, G., Pfau, K., Chen, F. K., & Wu, Z. (2024). Multicenter Normative Data for Mesopic Microperimetry. Investigative Ophthalmology & Visual Science, 65(12), 27. https://doi.org/10.1167/iovs.65.12.27
Background: The aim of this study was to create a large, multicentre normative dataset for MAIA microperimetry and to compare predictive models.
Innovation: The analysis used innovative statistical methods to explain the normal variability of visual sensitivity and to develop user‑friendly models for clinical applications.
Significance: This dataset is an indispensable reference for the interpretation of test results and provides an essential contribution to the standardisation and improvement of clinical diagnoses.
3. Need for anti‑VEGF therapy in Pseudoxanthoma elasticum
Raming, K., Pfau, M., Herrmann, P., Holz, F. G., & Pfau, K. (2024). Anti‑VEGF Treatment for Secondary Neovascularization in Pseudoxanthoma Elasticum. American Journal of Ophthalmology, 253, 101‑110. https://doi.org/10.1016/j.ajo.2024.03.026
Background: This retrospective cohort study investigated the treatment needs and outcomes in patients with PXE who suffer from secondary choroidal neovascularisation (CNV).
Innovation: The work shows that PXE patients require intensive anti‑VEGF therapies already at a young age and highlights important predictors for therapy success.
Significance: The results underline the need for early intervention and provide insights for the development of durable therapeutics.
Summary
We look back on a year of significant scientific progress and look forward to the challenges and opportunities that the coming year will bring. We wish you a relaxing holiday season and a successful year 2025. If you have any questions or are interested in our studies, please do not hesitate to contact us.