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Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

Retina October 2024

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

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Maureen G. Maguire; David G. Birch; Jacque L. Duncan; Allison R. Ayala; Lauren N. Ayton; Janet K. Cheetham; Peiyao Cheng; Todd A. Durham; Frederick L. Ferris, III; Carel B. Hoyng; Rachel M. Huckfeldt; Glenn J. Jaffe; Christine Kay; Eleonora M. Lad; Bart P. Leroy; Wendi Liang; Lee S. McDaniel; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Lassana Samarakoon; on behalf of the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: cohort studies, eye, natural history, outcome measures, retinal degeneration, sample size, surrogate endpoints, vision, united states food and drug administration, perimetry
Trans. Vis. Sci. Tech.. 2024; 13(10):15. https://doi.org/10.1167/tvst.13.10.15

Includes: Supplemental Content

Artificial Intelligence September 2024

Generalizable Deep Learning for the Detection of Incomplete and Complete Retinal Pigment Epithelium and Outer Retinal Atrophy: A MACUSTAR Report

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Coen de Vente; Philippe Valmaggia; Carel B. Hoyng; Frank G. Holz; Mohammad M. Islam; Caroline C. W. Klaver; Camiel J. F. Boon; Steffen Schmitz-Valckenberg; Adnan Tufail; Marlene Saßmannshausen; Clara I. Sánchez; on behalf of the MACUSTAR Consortium
TAGS: datasets, deep learning, eye, retinal atrophy, retinal pigment epithelium, biological markers, cohort studies, training
Trans. Vis. Sci. Tech.. 2024; 13(9):11. https://doi.org/10.1167/tvst.13.9.11

Includes: Supplemental Content

Genetics August 2024

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

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Pam A. T. Heutinck; L. Ingeborgh van den Born; Maikel Vermeer; Adriana I. Iglesias Gonzales; Carel B. Hoyng; Jan Willem R. Pott; Hester Y. Kroes; Mary J. van Schooneveld; Camiel J. F. Boon; Maria M. van Genderen; Astrid S. Plomp; Yvonne de Jong-Hesse; Michelle B. van Egmond-Ebbeling; Lies H. Hoefsloot; Arthur A. Bergen; Caroline C. W. Klaver; Magda A. Meester-Smoor; Alberta A. H. J. Thiadens; Virginie J. M. Verhoeven
TAGS: child, cohort studies, dutch, genetics, hereditary retinal dystrophy, pediatrics, phenotype, genes
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):40. https://doi.org/10.1167/iovs.65.10.40

Includes: Supplemental Content

Retina June 2024

Unveiling Statins and Genetics in Age-Related Macular Degeneration: The Coimbra Eye Study—Report 9

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Patrícia Barreto; Cláudia Farinha; Rita Coimbra; Maria Luz Cachulo; Joana Barbosa Melo; Yara Lechanteur; Carel B. Hoyng; José Cunha-Vaz; Rufino Silva
TAGS: age-related macular degeneration, eye, statins, genetics, study report
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):38. https://doi.org/10.1167/iovs.65.6.38

ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Associations between structural phenotype and pathway-specific polygenic risk scores in intermediate age-related macular degeneration – a MACUSTAR report

Lukas Schloesser; Jan Henrik Terheyden; Charlotte Behning; Hannah Klinkhammer; Davide Garzone; Marlene Sassmannshausen; Steffen Schmitz-Valckenberg; Carel C B Hoyng; Clarisa Sanchez; Ulrich F O Luhmann; Klaus-Peter Moll; Sergio Leal; Matthias Schmid; Frank G Holz; Robert Finger

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):378.

ARVO Annual Meeting Abstract June 2024

Visual functioning and generic health in Stargardt disease (STGD1): a cross-sectional study

Catherina Li; Jeroen A.A.H. Pas; Francesco Cinque; Nathalie M Bax; Stanley Lambertus; Lena Ye; Patty P.A. Dhooge; Carel C B Hoyng; Caroline M van Heugten

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1829.

ARVO Annual Meeting Abstract June 2024

Remofuscin slows retinal thinning in Stargardt Disease (STGD1) – results from the Stargardt Remofuscin Treatment Trial (STARTT) a 2-year placebo-controlled study.

Tobias Peters; Katarina Stingl; Wolfgang Klein; Mario G Fsadni; Nils Meland; Patty P.A. Dhooge; Camiel Boon; Andrew Lotery; Maurizio Battaglia Parodi; Philipp Herrmann; Frank G Holz; Steffen Schmitz-Valckenberg; Philipp Möller; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2205.

ARVO Annual Meeting Abstract June 2024

Natural Course of Atrophy Growth Rate on Fundus Autofluorescence in a Large Cohort of Stargardt Patients

Jeroen Adrianus Antonius Hendrikus Pas; Catherina Li; Filip Van Den Broeck; Patty P.A. Dhooge; Julie De Zaeytijd; Bart Peter Leroy; Rob Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3828.

ARVO Annual Meeting Abstract June 2024

Sequencing 105 macula disease-associated genes in an AMD cohort highlights the involvement of PRPH2 , BEST1 and RP1 in AMD-mimicking diseases.

Rebekkah Hitti-Malin; Anna Tracewska; Carel C B Hoyng; Caroline C W Klaver; Yara Lechanteur; Anneke I. Den Hollander; Björn Bakker; Erica G.M. Boonen; Susanne Roosing; Frans Cremers

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4662.

ARVO Annual Meeting Abstract June 2024

Association between the genetic risk score and extramacular drusen in an age-related macular degeneration cohort - The Coimbra Eye Study

Rita Coimbra; Claudia Farinha; Patrícia Barreto; Maria da Luz Cachulo; José Cunha-Vaz; Yara Lechanteur; Carel C B Hoyng; Rufino Silva

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4389.

ARVO Annual Meeting Abstract June 2024

Uncovering statins with genetics in age-related macular degeneration

Patrícia Barreto; Claudia Farinha; Rita Coimbra; Maria da Luz Cachulo; Joana Melo; Carel C B Hoyng; Yara Lechanteur; José Cunha-Vaz; Rufino Silva

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4355.

ARVO Annual Meeting Abstract June 2024

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

Hind Almushattat; Michalis Georgiou; Jonathan Hensman; Filip Van Den Broeck; Carel C B Hoyng; Alberta Thiadens; L. Ingeborgh van den Born; Maria Genderen; Bart Peter Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5121.

ARVO Annual Meeting Abstract June 2024

Towards clinical intervention for Stargardt disease using antisense oligonucleotides to rescue aberrant splicing caused by the prevalent ABCA4 c.768G>T variant

Rob WJ Collin; Femke Bukkems; Lonneke Duijkers; Tomasz Z Tomkiewicz; Andrei Sarlea; Irene Vazquez Dominguez; Mihai G Netea; Carel C B Hoyng; Alex Garanto; Dyah W Karjosukarso

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6095.

ARVO Annual Meeting Abstract June 2023

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Suzanne de Bruijn; Michele Pinelli; Ivan Conte; Kasper Derks; Tabea V. Riepe; Silvia Albert; Frans P Cremers; Carel C B Hoyng; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4541.

ARVO Annual Meeting Abstract June 2023

Risk variants in the CFH gene associate with elevated levels of coagulation and complement factors in idiopathic multifocal choroiditis

Evianne Laura de Groot; Jeannette Ossewaarde-van Norel; Joke H. de Boer; Sanne Hiddingh; Bjorn Bakker; Ramon A.C. van Huet; Ninette H. ten Dam-van Loon; Alberta A H J Thiadens; Magda A. Meester; Yvonne de Jong-Hesse; Leonoor I. Los; Anneke I. den Hollander; Camiel J F Boon; Kristel R. van Eijk; Carel C B Hoyng; Jonas J.W. Kuiper

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4528.

ARVO Annual Meeting Abstract June 2023

OCT Super-Resolution for Data Standardization using AI: A MACUSTAR report

Coen de Vente; Adnan Tufail; Steffen Schmitz-Valckenberg; Marlene Sassmannshausen; Carel C B Hoyng; Clara I. Sánchez

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):313.

ARVO Annual Meeting Abstract June 2023

Cost-effectiveness of screening for hydroxychloroquine retinopathy – optimization of the guideline

Freekje van Asten; Sara W. Quist; Sophie te Dorsthorst; Roel D. Freriks; Maarten J. Postma; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):982.

ARVO Annual Meeting Abstract June 2023

Association between novel lipoprotein particles and age-related macular degeneration

Sofie Clasina Anna ten Brink; Sarah M. King; Yanlin Li; Carel C B Hoyng; Anneke I. den Hollander; Caroline C W Klaver; Ronald M. Krauss; Magda A. Meester; Yara T E Lechanteur

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1737.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

Generalizable Deep Learning for the Detection of Incomplete and Complete Retinal Pigment Epithelium and Outer Retinal Atrophy: A MACUSTAR Report

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Unveiling Statins and Genetics in Age-Related Macular Degeneration: The Coimbra Eye Study—Report 9

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Associations between structural phenotype and pathway-specific polygenic risk scores in intermediate age-related macular degeneration – a MACUSTAR report

Visual functioning and generic health in Stargardt disease (STGD1): a cross-sectional study

Remofuscin slows retinal thinning in Stargardt Disease (STGD1) – results from the Stargardt Remofuscin Treatment Trial (STARTT) a 2-year placebo-controlled study.

Natural Course of Atrophy Growth Rate on Fundus Autofluorescence in a Large Cohort of Stargardt Patients

Sequencing 105 macula disease-associated genes in an AMD cohort highlights the involvement of PRPH2 , BEST1 and RP1 in AMD-mimicking diseases.

Association between the genetic risk score and extramacular drusen in an age-related macular degeneration cohort - The Coimbra Eye Study

Uncovering statins with genetics in age-related macular degeneration

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

Towards clinical intervention for Stargardt disease using antisense oligonucleotides to rescue aberrant splicing caused by the prevalent ABCA4 c.768G>T variant

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Risk variants in the CFH gene associate with elevated levels of coagulation and complement factors in idiopathic multifocal choroiditis

OCT Super-Resolution for Data Standardization using AI: A MACUSTAR report

Cost-effectiveness of screening for hydroxychloroquine retinopathy – optimization of the guideline

Association between novel lipoprotein particles and age-related macular degeneration

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