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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

Development of a Genotyping Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium

Anita de Breuk; Ilhan Erkin Acar; Magda Meester; Mascha MVAP Schijvenaars; Eveline Kersten; Jordi Mones; Daniel Pauleikhoff; Rufino Silva; Sascha Fauser; Carel C B Hoyng; Cecile DelCourt; Caroline C W Klaver; Marieke JH Coenen; Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2955. 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

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:

ARVO Annual Meeting Abstract July 2019

Metabolomics in Age-related Macular Degeneration: The EYE-RISK Consortium

Ilhan Erkin Acar; Magda Meester; Laura Lorés de Motta; Daniel Pauleikhoff; Sascha Fauser; Carel C B Hoyng; Cecile DelCourt; Caroline C W Klaver; Tessel E Galesloot; Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1004. doi:

ARVO Annual Meeting Abstract July 2019

Risk factors for Fellow Eye Progression in Patients with Unilateral Exudative Age-Related Macular Degeneration

Julia Lemke; Vasilena Sitnilska; Caroline Gietzelt; Tina Schick; Carel C B Hoyng; Anneke I Den Hollander; Sascha Fauser; Lebriz Altay

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1134. doi:

ARVO Annual Meeting Abstract July 2019

Non-genetic risk factors for age-related macular degeneration in nonagenarians

Vasilena Sitnilska; Tina Schick; Anneke I Den Hollander; Carel C B Hoyng; Sascha Fauser; Lebriz Altay

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1135. 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

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

E.H. Henrike Runhart; Dyon Valkenburg; Stephanie Cornelis; Mubeen Khan; Riccardo Sangermano; Galuh D.N. Astuti; Silvia Albert; nathalie m bax; Jan-Willem R. Pott; Joke B.G.M. Verheij; Ellen A.W. Blokland; Frans P Cremers; L. Ingeborgh van den Born; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1338. 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:

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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

Development of a Genotyping Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium

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

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

Metabolomics in Age-related Macular Degeneration: The EYE-RISK Consortium

Risk factors for Fellow Eye Progression in Patients with Unilateral Exudative Age-Related Macular Degeneration

Non-genetic risk factors for age-related macular degeneration in nonagenarians

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

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

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

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