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Genetics May 2019

Extending the Spectrum of EYS -Associated Retinal Disease to Macular Dystrophy

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Laurence H. M. Pierrache; Muriël Messchaert; Alberta A. H. J. Thiadens; Lonneke Haer-Wigman; Yvonne de Jong-Hesse; Wendy A. G. van Zelst-Stams; Rob W. J. Collin; Caroline C. W. Klaver; L. Ingeborgh van den Born
TAGS: phenotype, genotype, retinal diseases, vision, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2049-2063. doi: 10.1167/iovs.18-25531

Includes: Supplemental Content

Genetics March 2019

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

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Sanne K. Verbakel; Ramon A. C. van Huet; Anneke I. den Hollander; Maartje J. Geerlings; Eveline Kersten; B. Jeroen Klevering; Caroline C. W. Klaver; Astrid S. Plomp; Nieneke L. Wesseling; Arthur A. B. Bergen; Konstantinos Nikopoulos; Carlo Rivolta; Yasuhiro Ikeda; Koh-Hei Sonoda; Yuko Wada; Camiel J. F. Boon; Toru Nakazawa; Carel B. Hoyng; Koji M. Nishiguchi
TAGS: phenotype, mutation, family, genes, retinitis pigmentosa, genetics, age-related macular degeneration, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1192-1203. doi: 10.1167/iovs.18-26084

Includes: Supplemental Content

Special Issue February 2019

IMI – Myopia Control Reports Overview and Introduction

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James S. Wolffsohn; Daniel Ian Flitcroft; Kate L. Gifford; Monica Jong; Lyndon Jones; Caroline C. W. Klaver; Nicola S. Logan; Kovin Naidoo; Serge Resnikoff; Padmaja Sankaridurg; Earl L. Smith, III; David Troilo; Christine F. Wildsoet
TAGS: myopia
Invest. Ophthalmol. Vis. Sci.. 2019; 60(3):M1-M19. doi: 10.1167/iovs.18-25980

Special Issue February 2019

IMI – Myopia Genetics Report

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Milly S. Tedja; Annechien E. G. Haarman; Magda A. Meester-Smoor; Jaakko Kaprio; David A. Mackey; Jeremy A. Guggenheim; Christopher J. Hammond; Virginie J. M. Verhoeven; Caroline C. W. Klaver; for the CREAM Consortium
TAGS: genes, myopia, refractive errors, genetics, genome-wide association study, universities
Invest. Ophthalmol. Vis. Sci.. 2019; 60(3):M89-M105. doi: 10.1167/iovs.18-25965

Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. doi: 10.1167/iovs.18-24817

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Extensive phenotyping in CRB1 -associated retinal dystrophies: defining clinical endpoints for gene therapy trials

Mays Talib; Mary van Schooneveld; Jan Wijnholds; Maria M van Genderen; N. Schalij-Delofs; Ralph Florijn; Frans P Cremers; Ingeborgh Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):43. doi:

ARVO Annual Meeting Abstract July 2018

Post-GWAS analysis on the molecular machinery in refractive error development

Milly S. Tedja; Robert Wojciechowski; Pirro G Hysi; Virginie JM Verhoeven; Christopher J Hammond; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1821. doi:

ARVO Annual Meeting Abstract July 2018

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Adriana I Iglesias; Jue Sheng Ong; Puya Gharahkhani; Dwight Stambolian; Caroline C W Klaver; Stuart MacGregor; Cornelia van Duijn

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1827. doi:

ARVO Annual Meeting Abstract July 2018

Risk variances of refractive error and axial length explained by polygenic risk scores of spherical equivalents

Clair Enthoven; Adriana I Iglesias; Milly S. Tedja; Willem Tideman; Jan Roelof Polling; Virginie JM Verhoeven; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):700. doi:

ARVO Annual Meeting Abstract July 2018

Whole-exome sequencing in age-related macular degeneration identifies rare protein-altering variants in COL8A1, a component of Bruch’s membrane

Anneke I Den Hollander; Jordi Corominas; Johanna Maria Colijn; Maartje Geerlings; Sascha Fauser; Eiko de Jong; Cornelia van Duijn; Carel C B Hoyng; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):789. doi:

ARVO Annual Meeting Abstract July 2018

The progression of myopia before the age of 25 years: The DREAM Study

Jan Roelof Polling; Caroline C W Klaver; Willem Tideman

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3953. doi:

ARVO Annual Meeting Abstract July 2018

Do volume, height and width of the eye determine refractive error? Results from 10-year-old European children from the Generation R Study.

Willem Tideman; Kasper Marstal; Jan Roelof Polling; Vincent Jaddoe; Meike Vernooij; Aad van der Lugt; Wiro Niessen; Dirk Poot; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2136. doi:

ARVO Annual Meeting Abstract July 2018

A New TGFBI-C orneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy

Bart Van Dooren; Frea Sloot; Caroline C W Klaver; Alberta A H J Thiadens

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2927. doi:

ARVO Annual Meeting Abstract July 2018

Mediterranean diet and incidence of advanced AMD: The EYE-RISK CONSORTIUM

Benedicte MJ Merle; Johanna Maria Colijn; Audrey Cougnard-Gregoire; Alexandra P.M de Koning-Baclus; Marie-Noelle Delyfer; Jessica C Kiefte-de Jong; Johannes R Vingerling; Catherine Féart; Timo Verzijden; Cécilia Samieri; Oscar H Franco; Jean-Francois Korobelnik; Caroline C W Klaver; Cecile DelCourt

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3010. doi:

ARVO Annual Meeting Abstract July 2018

Vitamin D deficiency and association with age-related macular degeneration in the Rotterdam Study

Gabrielle HS Buitendijk; Johanna Maria Colijn; Sheila P M Backus; Johannes R Vingerling; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3012. doi:

ARVO Annual Meeting Abstract July 2018

Is ‘good’ cholesterol bad for Age-related Macular Degeneration? Evidence from the EYE-RISK and E3 Consortia

Johanna Maria Colijn; Eveline Kersten; Ayse Demirkan; Audrey Cougnard-Gregoire; Timo Verzijden; Magda A. Meester; Benedicte MJ Merle; Johannes R Vingerling; Anneke I Den Hollander; Cornelia van Duijn; Cecile DelCourt; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3013. doi:

ARVO Annual Meeting Abstract July 2018

A Variant in Lipid Regulator FADS1 is Associated with the Risk of AMD in the Rotterdam Study

Sheila P M Backus; Jessica C Kiefte-de Jong; Johanna Maria Colijn; Pieter W.M. Bonnemaijer; Gabrielle HS Buitendijk; Johannes R Vingerling; Oscar H Franco; Magda A. Meester; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3015. doi:

ARVO Annual Meeting Abstract July 2018

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Pieter W.M. Bonnemaijer; Adriana I Iglesias; Anna Sanyiwa; Hassan G Hassan; Heiko Philippin; Colin Cook; Janey L Wiggs; Christopher J Hammond; Michael A Hauser; Hans G Lemij; Ruth Loos; Cornelia van Duijn; Alberta A H J Thiadens; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5136. doi:

Genetics July 2018

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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Esmee H. Runhart; Riccardo Sangermano; Stéphanie S. Cornelis; Joke B. G. M. Verheij; Astrid S. Plomp; Camiel J. F. Boon; Dorien Lugtenberg; Susanne Roosing; Nathalie M. Bax; Ellen A. W. Blokland; Marlie H. M. Jacobs-Camps; Saskia D. van der Velde-Visser; Jan-Willem R. Pott; Klaus Rohrschneider; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; L. Ingeborgh van den Born; Carel B. Hoyng; Frans P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. doi: 10.1167/iovs.18-23881

Includes: Supplemental Content

Genetics October 2017

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

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Mohsen Ghanbari; Adriana I. Iglesias; Henriët Springelkamp; Cornelia M. van Duijn; M. Arfan Ikram; Abbas Dehghan; Stefan J. Erkeland; Caroline C. W. Klaver; Magda A. Meester-Smoor; for the International Glaucoma Genetics Consortium (IGGC)
TAGS: glaucoma, open-angle glaucoma, genetics, endophenotype, micrornas
Invest. Ophthalmol. Vis. Sci.. 2017; 58(12):5368-5377. doi: 10.1167/iovs.17-22410

Includes: Supplemental Content

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Extending the Spectrum of EYS -Associated Retinal Disease to Macular Dystrophy

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

IMI – Myopia Control Reports Overview and Introduction

IMI – Myopia Genetics Report

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Extensive phenotyping in CRB1 -associated retinal dystrophies: defining clinical endpoints for gene therapy trials

Post-GWAS analysis on the molecular machinery in refractive error development

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Risk variances of refractive error and axial length explained by polygenic risk scores of spherical equivalents

Whole-exome sequencing in age-related macular degeneration identifies rare protein-altering variants in COL8A1, a component of Bruch’s membrane

The progression of myopia before the age of 25 years: The DREAM Study

Do volume, height and width of the eye determine refractive error? Results from 10-year-old European children from the Generation R Study.

A New TGFBI-C orneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy

Mediterranean diet and incidence of advanced AMD: The EYE-RISK CONSORTIUM

Vitamin D deficiency and association with age-related macular degeneration in the Rotterdam Study

Is ‘good’ cholesterol bad for Age-related Macular Degeneration? Evidence from the EYE-RISK and E3 Consortia

A Variant in Lipid Regulator FADS1 is Associated with the Risk of AMD in the Rotterdam Study

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma

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