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ARVO Annual Meeting Abstract June 2020

Phenotypic consequences of GJD2, the first GWAS hit for common myopia

Annechien Haarman; Clair Enthoven; Jan Keunen; Camiel Boon; Annette Geerards; Gregorius P M Luyten; The Erasmus MC Myopia Research Group Rotterdam; Virginie J.M. Verhoeven; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):850. doi:

ARVO Annual Meeting Abstract June 2020

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Maria M. van Genderen; Ralph J. Florijn; Jacoline ten Brink; Frans P Cremers; Magda A. Meester; Caroline Klaver; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta Thiadens; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3051. doi:

Articles August 2019

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

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Mays Talib; Mary J. van Schooneveld; Roos J. G. van Duuren; Caroline Van Cauwenbergh; Jacoline B. ten Brink; Elfride De Baere; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: follow-up, genetics, mutation, phenotype, retinal degeneration, respiratory distress syndrome, newborn, eye, visual impairment
Trans. Vis. Sci. Tech.. 2019; 8(4):24. doi: https://doi.org/10.1167/tvst.8.4.24

Includes: Supplemental Content

Retina August 2019

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy

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Rosa L. Schellevis; Lebriz Altay; Asha Kalisingh; Timo W. F. Mulders; Vasilena Sitnilska; Carel B. Hoyng; Camiel J. F. Boon; Joannes M. M. Groenewoud; Eiko K. de Jong; Anneke I. den Hollander
TAGS: central serous chorioretinopathy, steroid hormone, steroids, hormones
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3407-3413. doi: https://doi.org/10.1167/iovs.19-26781

Includes: Supplemental Content

Retina August 2019

Foveal Sparing in Central Retinal Dystrophies

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Nathalie M. Bax; Dyon Valkenburg; Stanley Lambertus; B. Jeroen Klevering; Camiel J. F. Boon; Frank G. Holz; Frans P. M. Cremers; Monika Fleckenstein; Carel B. Hoyng; Moritz Lindner; for the Foveal Sparing Atrophy Study Team (FAST)
TAGS: atrophy, eye, fovea centralis, respiratory distress syndrome, newborn, retinal dystrophies, atrophic condition of skin, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3456-3467. doi: https://doi.org/10.1167/iovs.18-26533

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The spectrum of polypoidal choroidal vasculopathy in Caucasians: clinical characteristics and treatment outcome

Elon Van Dijk; Simona Veselinovic; Danial Mohabati; Wing Chung; Greetje Dijkman; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1152. doi:

ARVO Annual Meeting Abstract July 2019

Changes on multimodal imaging after treatment with photodynamic therapy or high-density subthreshold micropulse laser in chronic central serous chorioretinopathy

Thomas Jurian van Rijssen; Leo C Hahn; Elon Van Dijk; Paula Scholz; Myrte Breukink; Eric H Souied; Robert E MacLaren; Giuseppe Querques; Sascha Fauser; Susan M. Downes; Carel C B Hoyng; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1155. doi:

ARVO Annual Meeting Abstract July 2019

RNAseq analysis of in vitro retinal organoids shows comparable pathway expression to developing eye in vivo

Philip Wagstaff; Anneloor ten Asbroek; Valeria Lo Faro; Aldo Jongejan; Camiel Boon; Clara van Karnebeek; Frederik Wijburg; Ronaldus Wanders; Elizabeth Meijers-Heijboer; Nomdo M Jansonius; Arthur A Bergen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3334. doi:

ARVO Annual Meeting Abstract July 2019

A registry and research database for retinal dystrophies – the RD5000 database

Magda Meester; Maikel Vermeer; Camiel Boon; Maria M. van Genderen; Carel C B Hoyng; Frans P Cremers; Clasien Oomen; Alberta A H J Thiadens; Jan-Willem R. Pott; Mary J van Schooneveld; Caroline C W Klaver; L. Ingeborgh van den Born

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3962. doi:

ARVO Annual Meeting Abstract July 2019

Corticosteroids and central serous chorioretinopathy: the role of the mineralocorticoid and glucocorticoid receptor in human choroidal endothelial cells

Joost Brinks; Elon H.C. van Dijk; Onno C. Meijer; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4325. doi:

ARVO Annual Meeting Abstract July 2019

Grading of retinal complications in high myopia occurring in Europeans

Annechien Haarman; Milly S. Tedja; Corina Brussee; Gwyneth A van Rijn; Johannes R. Vingerling; Jan Keunen; Camiel Boon; Annette J.M. Geerards; Gregorius P.M. Luyten; Virginie JM Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4349. doi:

ARVO Annual Meeting Abstract July 2019

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

Xuan-Thanh-An Nguyen; Mays Talib; Mary J van Schooneveld; Caroline Van Cauwenbergh; Jacoline B ten Brink; Ralph J Florijn; Nicoline Schalij-Delfos; Maria M. van Genderen; Frans P Cremers; L. Ingeborgh van den Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Bart P Leroy; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4505. doi:

ARVO Annual Meeting Abstract July 2019

Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

Moreno Menghini; David G Birch; Camiel Boon; Jacque L Duncan; M Dominik Fischer; Frank G Holz; Carel C B Hoyng; Kamron N Khan; Isabelle Anne Meunier; Mark E Pennesi; Eeva-Marja Kaarina Sankila; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5168. doi:

ARVO Annual Meeting Abstract July 2019

Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I

Johannes Birtel; Philipp Herrmann; Sander F. Garrelfs; Simon Dulz; Yevgeniya Atiskova; Roselie M. Diederen; Martin Gliem; Florian Brinkert; Frank G Holz; Camiel Boon; Bernd Hoppe; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5424. doi:

ARVO Annual Meeting Abstract July 2019

Designing a clinical trial to evaluate the safety and efficacy of oral soraprazan in Stargardt Disease

Carel C B Hoyng; Andrew Lotery; Katarina Stingl; Camiel Boon; Maurizio Parodi; Patty Dhooge; Tobias Peters; Wolfgang Klein; Mario G Fsadni; Hans Müller; Oliver Jungmann

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5704. doi:

Genetics March 2019

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

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Sanne K. Verbakel; Ramon A. C. van Huet; Anneke I. den Hollander; Maartje J. Geerlings; Eveline Kersten; B. Jeroen Klevering; Caroline C. W. Klaver; Astrid S. Plomp; Nieneke L. Wesseling; Arthur A. B. Bergen; Konstantinos Nikopoulos; Carlo Rivolta; Yasuhiro Ikeda; Koh-Hei Sonoda; Yuko Wada; Camiel J. F. Boon; Toru Nakazawa; Carel B. Hoyng; Koji M. Nishiguchi
TAGS: age-related macular degeneration, genes, macular dystrophy, mutation, retinitis pigmentosa, phenotype, family, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1192-1203. doi: https://doi.org/10.1167/iovs.18-26084

Includes: Supplemental Content

Biochemistry and Molecular Biology November 2018

The Effect of Corticosteroids on Human Choroidal Endothelial Cells: A Model to Study Central Serous Chorioretinopathy

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Joost Brinks; Elon H. C. van Dijk; Mahmoud Habeeb; Aikaterini Nikolaou; Roula Tsonaka; Hendrika A. B. Peters; Hetty C. M. Sips; Arjanneke F. van de Merbel; Eiko K. de Jong; Robbert G. E. Notenboom; Szymon M. Kielbasa; Silvère M. van der Maarel; Paul H. A. Quax; Onno C. Meijer; Camiel J. F. Boon
TAGS: adrenal corticosteroids, central serous chorioretinopathy, chronic exertional compartment syndrome, endothelial cells, glucocorticoids, hydrocortisone, mineralocorticoids, antagonists, agonists, patient isolation
Invest. Ophthalmol. Vis. Sci.. 2018; 59(13):5682-5692. doi: https://doi.org/10.1167/iovs.18-25054

Includes: Supplemental Content

Retina August 2018

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

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Mays Talib; Mary J. van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B. ten Brink; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Gislin Dagnelie; Maria M. van Genderen; Elfride De Baere; Magda A. Meester-Smoor; Julie De Zaeytijd; Frans P. M. Cremers; L. Ingeborgh van den Born; Alberta A. Thiadens; Carel B. Hoyng; Caroline C. Klaver; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: genes, heterozygote, phenotype, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. doi: https://doi.org/10.1167/iovs.17-23453

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Inner- and outer segments are required for efficient photoreceptor infection and expression in cultured human retina

Thilo Matthias Buck; Peter M Quinn; Camiel Boon; Celso H F Alves; Jan Wijnholds

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4540. doi:

ARVO Annual Meeting Abstract July 2018

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

Rosa Schellevis; Elon H. Van Dijk; Myrte Breukink; Lebriz Altay; Bjorn Bakker; Bobby Koeleman; Lambertus Kiemeney; Dorine Swinkels; Jan Keunen; Sascha Fauser; Carel C B Hoyng; Anneke I Den Hollander; Camiel Boon; Eiko de Jong

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4983. doi:

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Phenotypic consequences of GJD2, the first GWAS hit for common myopia

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy

Foveal Sparing in Central Retinal Dystrophies

The spectrum of polypoidal choroidal vasculopathy in Caucasians: clinical characteristics and treatment outcome

Changes on multimodal imaging after treatment with photodynamic therapy or high-density subthreshold micropulse laser in chronic central serous chorioretinopathy

RNAseq analysis of in vitro retinal organoids shows comparable pathway expression to developing eye in vivo

A registry and research database for retinal dystrophies – the RD5000 database

Corticosteroids and central serous chorioretinopathy: the role of the mineralocorticoid and glucocorticoid receptor in human choroidal endothelial cells

Grading of retinal complications in high myopia occurring in Europeans

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

Ocular phenotype and associations with systemic findings in patients with primary hyperoxaluria type I

Designing a clinical trial to evaluate the safety and efficacy of oral soraprazan in Stargardt Disease

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

The Effect of Corticosteroids on Human Choroidal Endothelial Cells: A Model to Study Central Serous Chorioretinopathy

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

Inner- and outer segments are required for efficient photoreceptor infection and expression in cultured human retina

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

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