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Retina August 2022

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study

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Cláudia Farinha; Patrícia Barreto; Rita Coimbra; Adela Iutis; Maria Luz Cachulo; José Cunha-Vaz; Yara T. E. Lechanteur; Carel B. Hoyng; Rufino Silva
TAGS: age-related macular degeneration, eye, phenotype, drusen, genes, genetics
Invest. Ophthalmol. Vis. Sci.. 2022; 63(9):5. doi: https://doi.org/10.1167/iovs.63.9.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Structure-function correlation of retinal photoreceptors in healthy subjects and PRPH2 -associated Central Areolar Choroidal Dystrophy patients assessed by high-resolution scanning laser imaging and microperimetry

Timo Mulders; Ludo van der Zanden; B. Jeroen Klevering; Carel B. Hoyng; Thomas Theelen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):994 – F0241. doi:

ARVO Annual Meeting Abstract June 2022

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Janine Reurink; Erik de Vrieze; Catherina H.Z. Li; Sanne Broekman; Theo Peters; Kornelia Neveling; Hanka Venselaar; Christian Gilissen; Janneke J.C. van Lith-Verhoeven; Lonneke Haer-Wigman; Carel C B Hoyng; Frans P Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wyk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):491 – A0068. doi:

ARVO Annual Meeting Abstract June 2022

Analysis of plasma HtrA1 concentrations in age-related macular degeneration

Sofie Clasina Anna ten Brink; Bjorn Bakker; Carel C B Hoyng; Yara T E Lechanteur; Caroline C W Klaver; Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):477 – A0014. doi:

ARVO Annual Meeting Abstract June 2022

Safety and efficacy of fovea-involving half-dose photodynamic therapy for chronic central serous chorioretinopathy

Helena Margaret Anthonia Feenstra; Roselie M.H. Diederen; Martine J.C.M. Lamme; Sascha Fauser; Susan M. Downes; Reinier O. Schlingemann; Carel C B Hoyng; Elon H.C. van Dijk; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):37. doi:

ARVO Annual Meeting Abstract June 2022

Association of genetics and the adherence to the Mediterranean diet: the risk for age-related macular degeneration

Patrícia Barreto; Claudia Farinha; Rita Coimbra; Maria Luz Cachulo; Joana Barbosa Melo; Isabel Marques Carreira; Carel C B Hoyng; Jose G Cunha-Vaz; Rufino Silva

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):346 – F0177. doi:

ARVO Annual Meeting Abstract June 2022

Equivalent choroidal thicknesses between eyes of patients with unilateral neovascular age-related macular degeneration who have been treated with anti-vascular endothelial growth factor: a paired eyes comparative study

Francesco Cinque; Femke van den Tillaart; Caroline C W Klaver; Carel C B Hoyng; Yara T E Lechanteur

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):340 – F0171. doi:

ARVO Annual Meeting Abstract June 2022

Rare variants in CFH and phenotype in Age-related Macular Degeneration in the Coimbra Eye Study.

Claudia Farinha; Patrícia Barreto; Rita Coimbra; Adela Lutis; Maria Luz Cachulo; Jose G Cunha-Vaz; Yara T E Lechanteur; Carel C B Hoyng; Rufino Silva

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):330 – F0161. doi:

ARVO Annual Meeting Abstract June 2022

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Susanne Roosing; Irene Vázquez-Domínguez; Catherina H.Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P Cremers; Carel C B Hoyng; Alejandro Garanto

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1600 – A0389. doi:

ARVO Annual Meeting Abstract June 2022

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B ten Brink; Ine Strubbe; Magda M. Meester-Smoor; Alberta A H J Thiadens; Roselie M.H. Diederen; Caroline C W Klaver; Carel C B Hoyng; Mies M. van Genderen; Bart P Leroy; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3319 – F0128. doi:

ARVO Annual Meeting Abstract June 2022

Disease progression in STGD1 patients with c.768G>T mutation

Catherina H.Z. Li; Patty P.A. Dhooge; Jeroen Pas; Rob WJ Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3772 – F0193. doi:

ARVO Annual Meeting Abstract June 2022

Spontaneous resolution of subretinal fluid in chronic central serous chorioretinopathy: the Fuji sign

Camiel J F Boon; Helena Margaret Anthonia Feenstra; Jonathan Hensman; Theodora Gkika; Carel C B Hoyng; Roselie M.H. Diederen; Reinier O. Schlingemann; Susan M. Downes; Elon H.C. van Dijk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3763 – F0184. doi:

ARVO Annual Meeting Abstract June 2022

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

Jessica Serena Karuntu; Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Mies M. van Genderen; Nicoline E. Schalij-Delfos; Caroline C W Klaver; Ralph J. Florijn; Jacoline B ten Brink; Magda M. Meester-Smoor; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta A H J Thiadens; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4479 – F0266. doi:

ARVO Annual Meeting Abstract June 2022

Reliability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients with Stargardt Disease

Jeroen Adrianus Antonius Hendrikus Pas; Patty P.A. Dhooge; Philipp T. Möller; Katarina Stingl; Camiel J F Boon; Andrew J Lotery; Maurizio Battaglia Parodi; Philipp Herrmann; Wolfgang Klein; Mario G Fsadni; Thomas H. Wheeler-Schilling; Frank G Holz; Carel C B Hoyng; Steffen Schmitz-Valckenberg

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4098 – F0062. doi:

Genetics May 2022

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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Irene Vázquez-Domínguez; Catherina H. Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P. M. Cremers; Alejandro Garanto; Carel B. Hoyng; Susanne Roosing
TAGS: adult, alleles, persistent postconcussive syndrome, postpolypectomy coagulation syndrome, vitelliform dystrophy, exons, rna splicing, genes
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):27. doi: https://doi.org/10.1167/iovs.63.5.27

Includes: Supplemental Content

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

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Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study

Structure-function correlation of retinal photoreceptors in healthy subjects and PRPH2 -associated Central Areolar Choroidal Dystrophy patients assessed by high-resolution scanning laser imaging and microperimetry

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Analysis of plasma HtrA1 concentrations in age-related macular degeneration

Safety and efficacy of fovea-involving half-dose photodynamic therapy for chronic central serous chorioretinopathy

Association of genetics and the adherence to the Mediterranean diet: the risk for age-related macular degeneration

Equivalent choroidal thicknesses between eyes of patients with unilateral neovascular age-related macular degeneration who have been treated with anti-vascular endothelial growth factor: a paired eyes comparative study

Rare variants in CFH and phenotype in Age-related Macular Degeneration in the Coimbra Eye Study.

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Disease progression in STGD1 patients with c.768G>T mutation

Spontaneous resolution of subretinal fluid in chronic central serous chorioretinopathy: the Fuji sign

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

Reliability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients with Stargardt Disease

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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

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