PI
Specialization

Ophthalmology

Focus of research

I am a clinician-scientist based at the Department of Ophthalmology of Amsterdam University Medical Centers, and Leiden University Medical Center, working as an ophthalmologist specialized in retinal diseases and vitreoretinal surgery. Since 2016, I have been appointed Professor by Special Appointment of Clinical Ophthalmogenetics at the University of Amsterdam, the Netherlands. Since 2019, I have also been appointed Full Professor of Ophthalmology at Leiden University.

In the past 13 years, I have conducted research on the clinical and genetic characteristics of retinal diseases, ranging from monogenetically inherited retinal diseases and age-related macular degeneration, to central serous chorioretinopathy (CSC). My PhD research, performed at the Department of Ophthalmology of Radboud University Medical Center (Nijmegen, the Netherlands), focused on hereditary retinal diseases. My PhD thesis, entitled “Hereditary retinal disease – Clinical and genetic studies on the role of the peripherin/RDS gene, the BEST1 gene, and the CFH gene”, received a cum laude predicate, and received the Nijmegen Center for Molecular Life Sciences (NCMLS) Best Thesis Award, as well as the Binkhorst Prize of Dutch Society of Ophthalmology for best PhD thesis.

After my PhD and during my ophthalmology residency in Nijmegen, I have collected a large cohort of retinal disease patients for clinical and genetic analyses. After receiving a Niels Stensen Fellowship, which I have spent at the renowned Oxford University Eye Hospital, I have established a broad national and international network to facilitate my research. In Oxford, I have witnessed the first-in-human gene therapy trial for patients with choroideremia, and surgical implantation of subretinal chips to facilitate artificial vision for the blind, by Prof. Robert MacLaren. During my fellowship in Oxford my main aim was to lay the groundwork for several genetic studies on retinal diseases, but also to develop the first-ever investigator-initiated European multicentre prospective randomized controlled trial (PLACE trial) in CSC, of which I am chief investigator. Based on this trial I have established a best practice treatment guideline for CSC (see key publications).

Acquired funding from (among others) UitZicht, a Gisela Thier Fellowship from Leiden University Medical Center (2013), a ZonMw VENI fund (2015), and ZonMw ‘More knowledge with less animals’ fund (2018) enabled me to appoint 8 PhD students (of whom two PhD students received their PhD degrees cum laude), on the topics of clinical and genetic characteristics of monogenic and multifactorial retinal diseases. In September 2020, I will be interviewed in the last round for a VIDI proposal on gene therapy studies in X-linked juvenile retinoschisis. This is an application initiated from the AmsterdamUMC.

My current main research focus is on hereditary retinal diseases, gene and stem cell therapy (my main focus in AmsterdamUMC, within our ERN-EYE and NFU Expertise Center for Hereditary Eye Diseases), central serous chorioretinopathy, and age-related macular degeneration.