Projects per year
Personal profile
Research interests
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.
specialisation
Education/Academic qualification
Bijzonder hoogleraar Klinische Ophthalmogenetica aan de UvA vanwege de ANVVB, University of Amsterdam
2016 → 2022
Gewoon hoogleraar UvA, University of Amsterdam
2022 → …
Collaborations and top research areas from the last five years
Projects
- 2 Active
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Investigating the role of vortex vein anastomoses in central serous chorioretinopathy (CSC)
Pauleikhoff, L. L. (Principal investigator) & Boon, C. (CoPI)
Deutsche Forschungsgemeinschaft
01/01/2022 → …
Project: Research
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Stress, steroids, and sight loss: more than meets the eye
Boon, C. (Principal investigator)
01/09/2015 → …
Project: Research
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Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis
Tan, T.-E., Dai, P., Hensman, J., Kiraly, P., Fenner, B. J., Liu, Y., Goh, R. S. M., Han, I. C., Ting, D. S. W., Boon, C. J. F. & Fischer, M. D., 2025, (E-pub ahead of print) In: Acta ophthalmologica.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies
Hahn, L. C., van der Veen, I., Georgiou, M., van Schooneveld, M. J., ten Brink, J. B., Florijn, R. J., Mahroo, O. A., de Carvalho, E. R., Webster, A. R., Bergen, A. A., Michaelides, M. & Boon, C. J. F., Jan 2025, In: Ophthalmology Retina. 9, 1, p. 78-88 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients
Hensman, J., el Allali, Y., Almushattat, H., de Vente, C., Sánchez, C. I. & Boon, C. J. F., 2025, (E-pub ahead of print) In: Acta ophthalmologica.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies
Moekotte, L., de Boer, J. H., Hiddingh, S., de Ligt, A., Nguyen, X.-T.-A., Hoyng, C. B., Inglehearn, C. F., McKibbin, M., Lamey, T. M., Thompson, J. A., Chen, F. K., McLaren, T. L., AlTalbishi, A., Panneman, D. M., Boonen, E. G. M., Banfi, S., Bocquet, B. A., Meunier, I., de Baere, E. & Koenekoop, R. & 14 others, , 1 Feb 2025, In: Investigative Ophthalmology and Visual Science. 66, 2, 55.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile