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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

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

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

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:

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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

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

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

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

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