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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

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

Genetics July 2018

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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Esmee H. Runhart; Riccardo Sangermano; Stéphanie S. Cornelis; Joke B. G. M. Verheij; Astrid S. Plomp; Camiel J. F. Boon; Dorien Lugtenberg; Susanne Roosing; Nathalie M. Bax; Ellen A. W. Blokland; Marlie H. M. Jacobs-Camps; Saskia D. van der Velde-Visser; Jan-Willem R. Pott; Klaus Rohrschneider; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; L. Ingeborgh van den Born; Carel B. Hoyng; Frans P. M. Cremers
TAGS: penetrance, genetic, stargardt's disease, proband, alleles, age of onset
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. doi: https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

RPGR -associated retinal dystrophies: a longitudinal study

Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Nicoline Schalij-Delfos; Ralph J. Florijn; Ingeborgh Van Den Born; Frans P Cremers; Alberta A H J Thiadens; Carel C B Hoyng; Caroline Klaver; Arthur Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2012. doi:

ARVO Annual Meeting Abstract June 2017

Fluorescein angiography and fundus autofluorescence imaging discrepancy in patients with chronic central serous chorioretinopathy

Vladimir Sheptulin; Danial Mohabati; Elon Van Dijk; Camiel J F Boon; Carel C B Hoyng; Konstantine Purtskhvanidze; Johann Roider

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1501. doi:

ARVO Annual Meeting Abstract June 2017

Long-term phenotype changes in patients with chronic central serous chorioretinopathy.

Johann Roider; Konstantine Purtskhvanidze; Vladimir Sheptulin; Danial Mohabati; Elon HC van Dijk; Camiel J F Boon; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1503. doi:

ARVO Annual Meeting Abstract June 2017

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

Shazia Micheal; Sorath Noorani Siddiqui; Saemah Nuzhat Zafar; Ralph J. Florijn; Hennie Bikker; Camiel J F Boon; Muhammad Khan; Anneke I Den Hollander; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2124. doi:

ARVO Annual Meeting Abstract June 2017

Potency assay for AAV-gene vectors in human iPSCs-derived retinas and donor retinas

Thilo Matthias Buck; Peter M Quinn; Celso Alves; Elon Van Dijk; Charlotte Ohonin; Camiel J F Boon; Jan Wijnholds

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4093. doi:

ARVO Annual Meeting Abstract June 2017

Systemic complement activation in central serous chorioretinopathy

Elon Van Dijk; Ngaisah Klar; Roula Tsonaka; Eiko de Jong; Cees van Kooten; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5923. doi:

ARVO Annual Meeting Abstract September 2016

Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC)

Roos Schellevis; Myrte Breukink; Elon H.C. Van Dijk; Sascha Fauser; Camiel J F Boon; Eiko de Jong; Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):646. doi:

ARVO Annual Meeting Abstract September 2016

Axial length and visual function in high myopia

Virginie JM Verhoeven; Margaretha CC Snabel; Gwyneth A van Rijn; Gabrielle HS Buitendijk; King T Wong; Jan EE Keunen; Camiel J F Boon; Annette JM Geerards; Gregorius P. M. Luyten; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2469. doi:

ARVO Annual Meeting Abstract September 2016

Central serous chorioretinopathy in primary hyperaldosteronism

Elon H.C. Van Dijk; Michiel Nijhoff; Eiko de Jong; Onno Meijer; Aiko De Vries; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5343. doi:

ARVO Annual Meeting Abstract September 2016

Clinical characteristics and response to photodynamic therapy in severe phenotypes of chronic central serous chorioretinopathy

Danial Mohabati; Elon H.C. Van Dijk; Mays Talib; Eiko de Jong; Sascha Fauser; Carel C B Hoyng; Suzanne Yzer; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5355. doi:

ARVO Annual Meeting Abstract September 2016

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Anneke I Den Hollander; Nicole T.M. Saksens; Mark P Krebs; Elfride De Baere; Frans P Cremers; Camiel J F Boon; Ronald Roepman; Bart Peter Leroy; Neal S Peachey; Carel C B Hoyng; Patsy M Nishina

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

Genetics August 2015

Genomic Copy Number Variations of the Complement Component C4B Gene Are Associated With Chronic Central Serous Chorioretinopathy

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Myrte B. Breukink; Rosa L. Schellevis; Camiel J. F. Boon; Sascha Fauser; Carel B. Hoyng; Anneke I. den Hollander; Eiko K. de Jong
TAGS: central serous chorioretinopathy, complement system proteins, copy number polymorphism, genes, genome
Invest. Ophthalmol. Vis. Sci.. 2015; 56(9):5608-5613. doi: https://doi.org/10.1167/iovs.15-17343

Retina August 2015

OCT Angiography Compared to Fluorescein and Indocyanine Green Angiography in Chronic Central Serous Chorioretinopathy

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Michel M. Teussink; Myrte B. Breukink; Mark J. J. P. van Grinsven; Carel B. Hoyng; B. Jeroen Klevering; Camiel J. F. Boon; Eiko K. de Jong; Thomas Theelen
TAGS: angiogram, central serous chorioretinopathy, fluorescein, indocyanine green angiography
Invest. Ophthalmol. Vis. Sci.. 2015; 56(9):5229-5237. doi: https://doi.org/10.1167/iovs.15-17140

Includes: Supplemental Content

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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

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

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

RPGR -associated retinal dystrophies: a longitudinal study

Fluorescein angiography and fundus autofluorescence imaging discrepancy in patients with chronic central serous chorioretinopathy

Long-term phenotype changes in patients with chronic central serous chorioretinopathy.

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

Potency assay for AAV-gene vectors in human iPSCs-derived retinas and donor retinas

Systemic complement activation in central serous chorioretinopathy

Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC)

Axial length and visual function in high myopia

Central serous chorioretinopathy in primary hyperaldosteronism

Clinical characteristics and response to photodynamic therapy in severe phenotypes of chronic central serous chorioretinopathy

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Genomic Copy Number Variations of the Complement Component C4B Gene Are Associated With Chronic Central Serous Chorioretinopathy

OCT Angiography Compared to Fluorescein and Indocyanine Green Angiography in Chronic Central Serous Chorioretinopathy

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