AG Pfau
Priv.-Doz. Dr. med. Kristina Pfau, FEBO
The Pfau Research Group is committed to advancing our understanding of rare retinal diseases, with a particular focus on conditions affecting Bruch's membrane, such as Pseudoxanthoma Elasticum (PXE), Sorsby fundus dystrophy, and age-related macular degeneration (AMD). Our research also delves into the complexities of other retinal disorders, including Alport syndrome, Macular Telangiectasia (MacTel), and a range of other rare diseases.
By investigating the underlying mechanisms of these conditions, we aim to contribute to the development of innovative diagnostic tools and therapies. Our ultimate goal is to improve patient outcomes and quality of life with our research and collaboration with pharmaceutical industry.
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum (PXE) is a genetic disorder characterized by progressive calcification and fragmentation of elastic fibers in various tissues, including the skin, eyes, and cardiovascular system.
In the context of ophthalmology, PXE often leads to severe vision loss due to the calcification of Bruch's membrane, a crucial layer in the retina. Dr. Kristina Pfau and her team have contributed significantly to understanding the retinal manifestations of PXE, particularly the functional impact of an affected Bruch’s membrane. Furthermore, the group explores the mechanisms leading to choroidal neovascularization and retinal atrophy. Their research provides valuable insights into potential therapeutic targets aimed at preserving the vision of PXE patients.
Sorsby Fundus Dystrophy
Sorsby Fundus Dystrophy is a rare inherited disorder that typically presents in mid-adulthood with rapid progression to severe central vision loss.
This condition is linked to mutations in the TIMP3 gene, which affects the integrity of Bruch's membrane. Dr. Pfau and team has been instrumental in identifying biomarkers and imaging features that differentiate Sorsby Fundus Dystrophy from other macular dystrophies. Her work has helped refine diagnostic criteria and improve early detection, which is critical for timely intervention.
Age-Related Macular Degeneration (AMD)
AMD is a leading cause of blindness in the elderly, primarily affecting the macula, the central part of the retina responsible for sharp vision.
The disease progresses through stages, often leading to geographic atrophy or choroidal neovascularization. Dr. Pfau and her group have made notable contributions to the understanding of AMD, particularly in the areas of retinal imaging and the use of outcome measures for clinical trials, such as dark adaptation. Their research has explored the role of Bruch's membrane in the pathogenesis of AMD, providing a deeper understanding of the disease and paving the way for more effective clinical trials.
Alport Syndrome
Alport Syndrome is a genetic condition that affects the kidneys, ears, and eyes, often leading to progressive loss of kidney function, hearing loss, and ocular abnormalities, including anterior lenticonus and retinal flecks.
The Pfau group has focused on the retinal aspects of Alport Syndrome, particularly the changes visible on optical coherence tomography (OCT) and OCT-Angiography. Their research has contributed to a better understanding of how Alport Syndrome impacts retinal health.
Macular Telangiectasia (MacTel)
MacTel is a rare retinal disorder characterized by a neurodegenerative process in the temporal and central macula, leading to vision loss.
The exact cause of MacTel is still not fully understood, but tremendous progress has been made in the past years by a consortium of retinal specialists collaborating on MacTel research. The University Eye Hospital Bonn is part of this consortium and the largest german center for MacTel and among the largest clinical sites worldwide.
Dr. Pfau and team have worked on the processes of secondary neovascularization in MacTel, the natural progression of the disease and functional deficits arising from the structural alterations.
Other Rare Diseases
In addition to the specific diseases mentioned above, the Pfau Research Group is also engaged in the study of various other rare retinal disorders, particularly those involving Bruch's membrane with ongoing international collaborations.
Through their extensive research and collaboration, Dr. Pfau and team are making significant strides in the field of ophthalmology, with a particular focus on improving outcomes for patients suffering from rare and often debilitating retinal diseases.
Priv.-Doz. Dr. med. Kristina Pfau, MD, FEBO (Group Leader)
Dr. med. Kristin Raming, MD (Senior Postdoc)
Dr. med. Jonathan Meinke, MD (Junior Postdoc)
Isabel Saltenberger, cand. med. dent. (Doctoral Student)
Maik Hetgens, cand. med. (Doctoral Student)
Carolina Kessler, cand. med. (Student Assistent)
Anne Löwinger, cand. med. (Doctoral Student)
José Luis Rodríguez, B. sc. (Student Assistent)
Nele Steffens (Student Assistent)
