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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.

Perspective June 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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David G. Birch; Janet K. Cheetham; Stephen P. Daiger; Carel Hoyng; Christine Kay; Ian M. MacDonald; Mark E. Pennesi; Lori S. Sullivan
TAGS: gene therapy, mutation, natural history, phenotype, retinitis pigmentosa, x-linked inheritance, disease progression, blindness, retinal diseases, surrogate endpoints
Trans. Vis. Sci. Tech.. 2023; 12(6):5. https://doi.org/10.1167/tvst.12.6.5

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.

ARVO Annual Meeting Abstract June 2023

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

Jonathan Hensman; Leo Hahn; Rosalie Diederen; Jacoline ten Brink; Ralph Florijn; Arthur Bergen; Ine Strubbe; Pam Heutinck; Maria M van Genderen; Ingeborgh Van Den Born; Alberta A H J Thiadens; Carel C B Hoyng; Bart Peter Leroy; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1550.

ARVO Annual Meeting Abstract June 2023

Association of age-related macular degeneration (AMD) retinal biomarkers with AMD polygenic risk scores in the MACUSTAR study cohort

Jan Henrik Terheyden; Charlotte Behning; Marlene Sassmannshausen; sarah thiele; Steffen Schmitz-Valckenberg; Adnan Tufail; Carel C B Hoyng; Matthias Schmid; Ulrich F O Luhmann; Klaus Peter Moll; Sergio Leal; Frank G Holz; Robert P Finger

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2150.

ARVO Annual Meeting Abstract June 2023

Mesopic microperimetry has added benefit over visual acuity in explaining self-reported visual function in age-related macular degeneration: a cross-sectional study

Francesco Cinque; Jeroen A.A.H. Pas; Anita de Breuk; Tom J. Heesterbeek; Carel C B Hoyng; Caroline C W Klaver; Yara T E Lechanteur

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2752.

ARVO Annual Meeting Abstract June 2023

Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression

Catherina Li; Jeroen A.A.H. Pas; Anne Hoogstede; Zelia Corradi; Rebekkah Hitti-Malin; Esmee H. Runhart; Patty P.A. Dhooge; Frans P Cremers; Rob W J Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3701.

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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

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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

Association between novel lipoprotein particles and age-related macular degeneration

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

Association of age-related macular degeneration (AMD) retinal biomarkers with AMD polygenic risk scores in the MACUSTAR study cohort

Mesopic microperimetry has added benefit over visual acuity in explaining self-reported visual function in age-related macular degeneration: a cross-sectional study

Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression

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