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Perspective April 2021

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

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Todd A. Durham; Jacque L. Duncan; Allison R. Ayala; David G. Birch; Janet K. Cheetham; Frederick L. Ferris, III; Carel B. Hoyng; Mark E. Pennesi; José-Alain Sahel; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: blindness, rare diseases
Trans. Vis. Sci. Tech.. 2021; 10(4):23. doi: https://doi.org/10.1167/tvst.10.4.23

Articles March 2021

Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease

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Patty P. A. Dhooge; Esmee H. Runhart; Stanley Lambertus; Nathalie M. Bax; Johannes M. M. Groenewoud; B. Jeroen Klevering; Carel B. Hoyng
TAGS: diagnostic imaging, eye, fundus autofluorescence imaging, language morphology, morphology, stargardt's disease, autofluorescence, follow-up
Trans. Vis. Sci. Tech.. 2021; 10(3):18. doi: https://doi.org/10.1167/tvst.10.3.18

Includes: Supplemental Content

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:

Retina March 2020

Complement Activation Levels Are Related to Disease Stage in AMD

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Thomas J. Heesterbeek; Yara T. E. Lechanteur; Laura Lorés-Motta; Tina Schick; Mohamed R. Daha; Lebriz Altay; Sandra Liakopoulos; Dzenita Smailhodzic; Anneke I. den Hollander; Carel B. Hoyng; Eiko K. de Jong; B. Jeroen Klevering
TAGS: complement activation, complement system proteins, choroidal neovascularization
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):18. doi: https://doi.org/10.1167/iovs.61.3.18

Includes: Supplemental Content

Retina October 2019

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

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Esmee H. Runhart; Dyon Valkenburg; Stéphanie S. Cornelis; Mubeen Khan; Riccardo Sangermano; Silvia Albert; Nathalie M. Bax; Galuh D. N. Astuti; Christian Gilissen; Jan-Willem R. Pott; Joke B. G. M. Verheij; Ellen A. W. Blokland; Frans P. M. Cremers; L. Ingeborgh van den Born; Carel B. Hoyng
TAGS: alleles, introns, penetrance, genetic, stargardt's disease, cohort studies, photoreceptors, age of onset, stem cells
Invest. Ophthalmol. Vis. Sci.. 2019; 60(13):4249-4256. doi: https://doi.org/10.1167/iovs.19-27524

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

Comparing the efficacy of bevacizumab to ranibizumab in patients with diabetic macular edema: the BRDME study

Maartje J.C. Vader; Ann-Sofie M.E. Schauwvlieghe; Frank D Verbraak; Greetje Dijkman; Johanna M.M. Hooymans; Leonie I. Los; Aeilko H. Zwinderman; Tunde Peto; Carel B. Hoyng; Redmer van Leeuwen; Johannes R. Vingerling; Annette C. Moll; Janneke J.C. van Lith-Verhoeven; Marcel G.W. Dijkgraaf; Reinier O. Schlingemann

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3648. doi:

ARVO Annual Meeting Abstract July 2019

AAV-mediated protein trans -splicing in the retina

Patrizia Tornabene; Ivana Trapani; Fabio Dell'Aquila; Elena Marrocco; Carlo Gesualdo; Settimio Rossi; Laura Giaquinto; Silvia Albert; Carel B. Hoyng; Elena Polishchuk; Frans P Cremers; Enrico Maria Surace; Francesca Simonelli; Antonella De Matteis; Roman Polishchuk; Alberto Auricchio

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5199. doi:

ARVO Annual Meeting Abstract July 2019

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Rob W J Collin; Mubeen Khan; Riccardo Sangermano; Sarah Naessens; Miriam Bauwens; Carel C B Hoyng; Frauke Coppieters; Silvia Albert; Michael E Cheetham; Elfride De Baere; Frans P Cremers; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3401. doi:

ARVO Annual Meeting Abstract July 2019

Subclinical choroidal neovascularizations in fellow-eyes of exudative age-related macular degeneration patients show a decrease in retinal sensitivity over time

Thomas Johannes Heesterbeek; Yara Lechanteur; Anita de Breuk; Anneke I Den Hollander; Jeroen Klevering; Thomas Theelen; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3484. doi:

ARVO Annual Meeting Abstract July 2019

Factor H-Related Protein 4 (FHR-4) drives complement dysregulation in age-related macular degeneration

Valentina Cipriani; Laura Lorés de Motta; Fan He; Dina Fathalla; Selina McHarg; Nadhim Bayatti; Ilhan Erkin Acar; Carel C B Hoyng; Sascha Fauser; Anthony Moore; John RW Yates; Paul Morgan; Eiko de Jong; Anneke I Den Hollander; Paul N Bishop; Simon J Clark

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3870. 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

The effect of genetic variants associated with age-related macular degeneration decreases in individuals aged 90 years and older. Findings from the International AMD Genomics Consortium

Laura Lorés de Motta; Tina Schick; Lebriz Altay; Carel C B Hoyng; Anneke I Den Hollander; Sascha Fauser

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4248. 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

Familial discordance in disease phenotype in siblings with Stargardt disease

Dyon Valkenburg; Esmee Runhart; Bart Liefers; stanley lambertus; Clara I Sanchez; Frans P Cremers; nathalie m bax; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5015. 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

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:

ARVO Annual Meeting Abstract July 2019

A patient-specific database facilitates the assessment of feasibility and supports the planning of a clinical trial with soraprazan for the treatment of Stargardt Disease

Patty Dhooge; Carel C B Hoyng; Clasien Oomen; Wolfgang Klein; Mario G Fsadni; Hans Müller; Oliver Jungmann

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5713. doi:

ARVO Annual Meeting Abstract July 2019

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

Susanne Roosing; Sanne K Verbakel; Zeinab Fadaie; Jeroen Klevering; Maria M. van Genderen; Ilse Feenstra; Frans P Cremers; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):423. doi:

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Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease

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

Complement Activation Levels Are Related to Disease Stage in AMD

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy

Foveal Sparing in Central Retinal Dystrophies

Comparing the efficacy of bevacizumab to ranibizumab in patients with diabetic macular edema: the BRDME study

AAV-mediated protein trans -splicing in the retina

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Subclinical choroidal neovascularizations in fellow-eyes of exudative age-related macular degeneration patients show a decrease in retinal sensitivity over time

Factor H-Related Protein 4 (FHR-4) drives complement dysregulation in age-related macular degeneration

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

The effect of genetic variants associated with age-related macular degeneration decreases in individuals aged 90 years and older. Findings from the International AMD Genomics Consortium

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

Familial discordance in disease phenotype in siblings with Stargardt disease

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

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

A patient-specific database facilitates the assessment of feasibility and supports the planning of a clinical trial with soraprazan for the treatment of Stargardt Disease

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

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