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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

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

Progression to late AMD: Role of SDOCT-biomarkers in patients with drusenoid PED

Julia Lemke; Vasilena Sitnilska; Eveline Kersten; Tina Schick; Philip Enders; Carel C B Hoyng; Anneke I Den Hollander; Sascha Fauser; Lebriz Altay

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2377. 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

An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis

Anne-Mieke Haasnoot; M.W. Schilham; S Kamphuis; P Hissink-muller; Arnd Heiligenhaus; D Foell; K Minden; R.A. Ophoff; Timothy Radstake; Anneke I Den Hollander; T Reinards; Sanne Hiddingh; N. Schalij-Delofs; Joke de Boer; S Pulit; Jonas Kuiper

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3492. doi:

ARVO Annual Meeting Abstract July 2018

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

Rosa Schellevis; Elon H. Van Dijk; Myrte Breukink; Lebriz Altay; Bjorn Bakker; Bobby Koeleman; Lambertus Kiemeney; Dorine Swinkels; Jan Keunen; Sascha Fauser; Carel C B Hoyng; Anneke I Den Hollander; Camiel Boon; Eiko de Jong

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4983. doi:

Special Issue July 2017

Omics Biomarkers in Ophthalmology

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Susette Lauwen; Eiko K. de Jong; Dirk J. Lefeber; Anneke I. den Hollander
TAGS: glaucoma, biological markers, eye diseases, genome, myopia, ophthalmology, genetics, proteins
Invest. Ophthalmol. Vis. Sci.. 2017; 58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Genetic, environmental and phenotypic risk factors for progression of age-related macular degeneration

Vasilena Sitnilska; Eveline Kersten; Lebriz Altay; Tina Schick; Philip Enders; Carel C B Hoyng; Anneke I Den Hollander; Sascha Fauser

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):176. doi:

ARVO Annual Meeting Abstract June 2017

Towards precision medicine in AMD: Genome-wide association study reveals genetic variants in CFH and CFHR4 that are strongly associated with complement activation levels

Laura Lorés de Motta; Constantin Paun; Jordi Corominas; Maartje Geerlings; Lebriz Altay; Tina Schick; Bjorn Bakker; Joannes Groenewoud; Mohamed Daha; Sascha Fauser; Anneke I Den Hollander; Eiko de Jong

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):809. doi:

ARVO Annual Meeting Abstract June 2017

Identification of a Novel Variant Associated with anti-VEGF Response in Age-related Macular Degeneration Using Exome Chip Analysis

Michelle Grunin; Laura Lorés-Motta; Moeen Riaz; Jordi Corominas; Andrea J. Richardson; Sascha Fauser; Robyn H Guymer; Eiko de Jong; Iris M Heid; Carel C B Hoyng; Andrew J Lotery; Paul Mitchell; Paul N Baird; Anneke I Den Hollander; Itay Chowers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1840. doi:

ARVO Annual Meeting Abstract June 2017

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

Shazia Micheal; Sorath Noorani Siddiqui; Saemah Nuzhat Zafar; Ralph J. Florijn; Hennie Bikker; Camiel J F Boon; Muhammad Khan; Anneke I Den Hollander; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2124. doi:

ARVO Annual Meeting Abstract June 2017

Genomics approaches to identify an elusive defect at chromosome 17q22 in an autosomal dominant retinitis pigmentosa family

Susanne Roosing; Muhammad Khan; Shazia Micheal; Marijke N. Zonneveld-Vrieling; Beryl Royer-Bertrand; Carlo Rivolta; Anneke I Den Hollander; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2750. doi:

Retina October 2016

Progression of Late-Onset Stargardt Disease

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Stanley Lambertus; Moritz Lindner; Nathalie M. Bax; Matthias M. Mauschitz; Jennifer Nadal; Matthias Schmid; Steffen Schmitz-Valckenberg; Anneke I. den Hollander; Bernhard H. F. Weber; Frank G. Holz; Gert Jan van der Wilt; Monika Fleckenstein; Carel B. Hoyng; for the Foveal sparing Atrophy Study Team (FAST)
TAGS: sample size, atrophy, cohort studies, visual acuity, diagnostic imaging, eye, stargardt's disease, retinal pigment epithelium
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5186-5191. doi: 10.1167/iovs.16-19833

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Anneke I Den Hollander; Nicole T.M. Saksens; Mark P Krebs; Elfride De Baere; Frans P Cremers; Camiel J F Boon; Ronald Roepman; Bart Peter Leroy; Neal S Peachey; Carel C B Hoyng; Patsy M Nishina

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Complex Eye Disease

Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC)

Roos Schellevis; Myrte Breukink; Elon H.C. Van Dijk; Sascha Fauser; Camiel J F Boon; Eiko de Jong; Anneke I Den Hollander

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):646. doi:

ARVO Annual Meeting Abstract September 2016

Genetic variants in ARMS2/HTRA1 and APOE loci are associated with hyperreflective foci present in early forms of age-related macular degeneration

Lebriz Ersoy; Paula Scholz; Carel C B Hoyng; Anneke I Den Hollander; Thomas Langmann; Sascha Fauser

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2628. doi:

ARVO Annual Meeting Abstract September 2016

Genetic and environmental risk factors for extramacular drusen

Xavier Subiras Rodriguez; Tina Schick; Aileen Berghold; Bernd Kirchhof; Anneke I den Hollander; Sascha Fauser; Sandra Liakopoulos

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2630. doi:

ARVO Annual Meeting Abstract September 2016

Pooled GWAS identifies a novel gene: OR52B4 influencing anti-VEGF treatment response in Age related macular degeneration

Moeen Riaz; Laura Lorés de Motta; Andrea J. Richardson; Yi Lu; Grant Montgomery; Eiko de Jong; Carel C B Hoyng; Ttuart Macgregor; Robyn H Guymer; Anneke I Den Hollander; Paul N Baird

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2640. doi:

ARVO Annual Meeting Abstract September 2016

Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the CFH gene

Eveline Kersten; Maartje Geerlings; Sascha Fauser; Anneke I Den Hollander; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4966. doi:

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

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

Progression to late AMD: Role of SDOCT-biomarkers in patients with drusenoid PED

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

An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

Omics Biomarkers in Ophthalmology

Genetic, environmental and phenotypic risk factors for progression of age-related macular degeneration

Towards precision medicine in AMD: Genome-wide association study reveals genetic variants in CFH and CFHR4 that are strongly associated with complement activation levels

Identification of a Novel Variant Associated with anti-VEGF Response in Age-related Macular Degeneration Using Exome Chip Analysis

Identification of novel variants in CYP1B1, PITX2, FOXC1, and PAX6 in congenital glaucoma and anterior segment dysgenesis

Genomics approaches to identify an elusive defect at chromosome 17q22 in an autosomal dominant retinitis pigmentosa family

Progression of Late-Onset Stargardt Disease

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Complex Eye Disease

Association analysis of functional variants in blood pressure regulation, blood clot formation and stress hormone binding genes with chronic central serous chorioretinopathy (cCSC)

Genetic variants in ARMS2/HTRA1 and APOE loci are associated with hyperreflective foci present in early forms of age-related macular degeneration

Genetic and environmental risk factors for extramacular drusen

Pooled GWAS identifies a novel gene: OR52B4 influencing anti-VEGF treatment response in Age related macular degeneration

Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the CFH gene

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