Publications by authors named "Alberta A H J Thiadens"

29 Publications

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Differences in clinical presentation of primary open-angle glaucoma between African and European populations.

Authors:
Pieter W M Bonnemaijer Valeria Lo Faro Anna J Sanyiwa Hassan G Hassan Colin Cook Suzanne Van de Laar Hans G Lemij Caroline C W Klaver Nomdo M Jansonius Alberta A H J Thiadens

Acta Ophthalmol 2021 Feb 8. Epub 2021 Feb 8.

Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.

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February 2021

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Authors:
Mays Talib Mary J van Schooneveld Jan Wijnholds Maria M van Genderen Nicoline E Schalij-Delfos Herman E Talsma Ralph J Florijn Jacoline B Ten Brink Frans P M Cremers Alberta A H J Thiadens L Ingeborgh van den Born Carel B Hoyng Magda A Meester-Smoor Arthur A Bergen Camiel J F Boon

Acta Ophthalmol 2021 Feb 2. Epub 2021 Feb 2.

Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

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February 2021

KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course - KCNV2 Study Group Report 1.

Authors:
Michalis Georgiou Anthony G Robson Kaoru Fujinami Shaun Michael Leo Ajoy Vincent Fadi Nasser Thales Antônio Cabral De Guimarães Samer Khateb Nikolas Pontikos Yu Fujinami-Yokokawa Xiao Liu Kazushige Tsunoda Takaaki Hayashi Mauricio E Vargas Alberta A H J Thiadens Emanuel R de Carvalho Xuan-Thanh-An Nguyen Gavin Arno Omar A Mahroo Maria Inmaculada Martin-Merida Belen Jimenez-Rolando Gema Gordo Ester Carreño Ayuso Carmen Dror Sharon Susanne Kohl Rachel M Huckfeldt Bernd Wissinger Camiel J F Boon Eyal Banin Mark E Pennesi Arif O Khan Andrew R Webster Eberhart Zrenner Elise Héon Michel Michaelides

Am J Ophthalmol 2020 Dec 10. Epub 2020 Dec 10.

Moorfields Eye Hospital, 162 City Rd, London EC1V 2PD, United Kingdom; UCL Institute of Ophthalmology, University College London, 11-43 Bath St, London EC1V 9E, United Kingdom. Electronic address:

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December 2020

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Authors:
Laura Kuehlewein Ditta Zobor Sten Olof Andreasson Carmen Ayuso Sandro Banfi Beatrice Bocquet Antje S Bernd Saskia Biskup Camiel J F Boon Susan M Downes M Dominik Fischer Frank G Holz Ulrich Kellner Bart P Leroy Isabelle Meunier Fadi Nasser Thomas Rosenberg Günther Rudolph Katarina Stingl Alberta A H J Thiadens Barbara Wilhelm Bernd Wissinger Eberhart Zrenner Susanne Kohl Nicole Weisschuh

JAMA Ophthalmol 2020 Oct 15. Epub 2020 Oct 15.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.

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October 2020

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state.

Authors:
Huibert J Simonsz Tina Rutar Stephen Kraft Alberta A H J Thiadens Manou R Batstra Robert M Verdijk Karin U Loeffler Guntram Kommerell

Acta Ophthalmol 2021 Feb 13;99(1):37-51. Epub 2020 Jun 13.

University Eye Clinic, Freiburg, Germany.

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February 2021

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Authors:
Pieter W M Bonnemaijer Elisabeth M van Leeuwen Adriana I Iglesias Puya Gharahkhani Veronique Vitart Anthony P Khawaja Mark Simcoe René Höhn Angela J Cree Rob P Igo Aslihan Gerhold-Ay Stefan Nickels James F Wilson Caroline Hayward Thibaud S Boutin Ozren Polašek Tin Aung Chiea Chuen Khor Najaf Amin Andrew J Lotery Janey L Wiggs Ching-Yu Cheng Pirro G Hysi Christopher J Hammond Alberta A H J Thiadens Stuart MacGregor Caroline C W Klaver Cornelia M van Duijn

Commun Biol 2019 27;2:435. Epub 2019 Nov 27.

2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.

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July 2020

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Authors:
Michael A Hauser R Rand Allingham Tin Aung Carly J Van Der Heide Kent D Taylor Jerome I Rotter Shih-Hsiu J Wang Pieter W M Bonnemaijer Susan E Williams Sadiq M Abdullahi Khaled K Abu-Amero Michael G Anderson Stephen Akafo Mahmoud B Alhassan Ifeoma Asimadu Radha Ayyagari Saydou Bakayoko Prisca Biangoup Nyamsi Donald W Bowden William C Bromley Donald L Budenz Trevor R Carmichael Pratap Challa Yii-Der Ida Chen Chimdi M Chuka-Okosa Jessica N Cooke Bailey Vital Paulino Costa Dianne A Cruz Harvey DuBiner John F Ervin Robert M Feldman Miles Flamme-Wiese Douglas E Gaasterland Sarah J Garnai Christopher A Girkin Nouhoum Guirou Xiuqing Guo Jonathan L Haines Christopher J Hammond Leon Herndon Thomas J Hoffmann Christine M Hulette Abba Hydara Robert P Igo Eric Jorgenson Joyce Kabwe Ngoy Janvier Kilangalanga Nkiru Kizor-Akaraiwe Rachel W Kuchtey Hasnaa Lamari Zheng Li Jeffrey M Liebmann Yutao Liu Ruth J F Loos Monica B Melo Sayoko E Moroi Joseph M Msosa Robert F Mullins Girish Nadkarni Abdoulaye Napo Maggie C Y Ng Hugo Freire Nunes Ebenezer Obeng-Nyarkoh Anthony Okeke Suhanya Okeke Olusegun Olaniyi Olusola Olawoye Mariana Borges Oliveira Louise R Pasquale Rodolfo A Perez-Grossmann Margaret A Pericak-Vance Xue Qin Michele Ramsay Serge Resnikoff Julia E Richards Rui Barroso Schimiti Kar Seng Sim William E Sponsel Paulo Vinicius Svidnicki Alberta A H J Thiadens Nkechinyere J Uche Cornelia M van Duijn José Paulo Cabral de Vasconcellos Janey L Wiggs Linda M Zangwill Neil Risch Dan Milea Adeyinka Ashaye Caroline C W Klaver Robert N Weinreb Allison E Ashley Koch John H Fingert Chiea Chuen Khor

JAMA 2019 11;322(17):1682-1691

Singapore Eye Research Institute, Singapore.

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November 2019

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

Authors:
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

Invest Ophthalmol Vis Sci 2019 05;60(6):2049-2063

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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May 2019

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Authors:
Riccardo Sangermano Alejandro Garanto Mubeen Khan Esmee H Runhart Miriam Bauwens Nathalie M Bax L Ingeborgh van den Born Muhammad Imran Khan Stéphanie S Cornelis Joke B G M Verheij Jan-Willem R Pott Alberta A H J Thiadens Caroline C W Klaver Bernard Puech Isabelle Meunier Sarah Naessens Gavin Arno Ana Fakin Keren J Carss F Lucy Raymond Andrew R Webster Claire-Marie Dhaenens Heidi Stöhr Felix Grassmann Bernhard H F Weber Carel B Hoyng Elfride De Baere Silvia Albert Rob W J Collin Frans P M Cremers

Genet Med 2019 08 15;21(8):1751-1760. Epub 2019 Jan 15.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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August 2019

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

Authors:
Pieter W M Bonnemaijer Adriana I Iglesias Girish N Nadkarni Anna J Sanyiwa Hassan G Hassan Colin Cook Mark Simcoe Kent D Taylor Claudia Schurmann Gillian M Belbin Eimear E Kenny Erwin P Bottinger Suzanne van de Laar Susan E I Wiliams Stephen K Akafo Adeyinka O Ashaye Linda M Zangwill Christopher A Girkin Maggie C Y Ng Jerome I Rotter Robert N Weinreb Zheng Li R Rand Allingham Abhishek Nag Pirro G Hysi Magda A Meester-Smoor Janey L Wiggs Michael A Hauser Christopher J Hammond Hans G Lemij Ruth J F Loos Cornelia M van Duijn Alberta A H J Thiadens Caroline C W Klaver

Hum Genet 2018 Oct 13;137(10):847-862. Epub 2018 Oct 13.

Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.

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October 2018

Uveitis causes according to immune status of patients.

Authors:
Aniki Rothova Anass Hajjaj Joeri de Hoog Alberta A H J Thiadens Virgil A S H Dalm

Acta Ophthalmol 2019 Feb 21;97(1):53-59. Epub 2018 Sep 21.

Department of Internal Medicine, Division Immunology, Erasmus Medical Center, Erasmus University, Rotterdam, the Netherlands.

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February 2019

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

Authors:
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 09;59(11):4384-4391

Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Cognitive Neuroscience Department, Nijmegen, The Netherlands.

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September 2018

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

Authors:
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 07;59(8):3220-3231

Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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July 2018

Vitamin A for Children With Retinitis Pigmentosa: An Unresolved Mystery.

Authors:
Caroline C W Klaver Alberta A H J Thiadens

JAMA Ophthalmol 2018 05;136(5):496-497

Erasmus Medical Center, Rotterdam, the Netherlands.

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May 2018

Genetic African Ancestry Is Associated With Central Corneal Thickness and Intraocular Pressure in Primary Open-Angle Glaucoma.

Authors:
Pieter W M Bonnemaijer Colin Cook Abhishek Nag Christopher J Hammond Cornelia M van Duijn Hans G Lemij Caroline C W Klaver Alberta A H J Thiadens

Invest Ophthalmol Vis Sci 2017 06;58(7):3172-3180

Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands 2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.

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June 2017

Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.

Authors:
Nathalie M Bax Riccardo Sangermano Susanne Roosing Alberta A H J Thiadens Lies H Hoefsloot L Ingeborgh van den Born Milan Phan B Jeroen Klevering Carla Westeneng-van Haaften Terry A Braun Marijke N Zonneveld-Vrieling Ilse de Wijs Merve Mutlu Edwin M Stone Anneke I den Hollander Caroline C W Klaver Carel B Hoyng Frans P M Cremers

Hum Mutat 2015 Jan;36(1):43-7

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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January 2015

Causes and consequences of inherited cone disorders.

Authors:
Susanne Roosing Alberta A H J Thiadens Carel B Hoyng Caroline C W Klaver Anneke I den Hollander Frans P M Cremers

Prog Retin Eye Res 2014 Sep 22;42:1-26. Epub 2014 May 22.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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September 2014

Accuracy of four commonly used color vision tests in the identification of cone disorders.

Authors:
Alberta A H J Thiadens Carel B Hoyng Jan Roelof Polling Riet Bernaerts-Biskop L Ingeborgh van den Born Caroline C W Klaver

Ophthalmic Epidemiol 2013 Apr;20(2):114-21

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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April 2013

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Authors:
Susanne Roosing L Ingeborgh van den Born Carel B Hoyng Alberta A H J Thiadens Elfride de Baere Rob W J Collin Robert K Koenekoop Bart P Leroy Norka van Moll-Ramirez Hanka Venselaar Frans C C Riemslag Frans P M Cremers Caroline C W Klaver Anneke I den Hollander

Ophthalmology 2013 Jun 15;120(6):1239-46. Epub 2013 Mar 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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June 2013

Cone-rod dystrophy can be a manifestation of Danon disease.

Authors:
Alberta A H J Thiadens Niki W R Slingerland Ralph J Florijn Gerhard H Visser Frans C Riemslag Caroline C W Klaver

Graefes Arch Clin Exp Ophthalmol 2012 May;250(5):769-74

Department of Ophthalmology, Erasmus Medical Center, P.O. Box 2040, NL-3000 CA, Rotterdam, Netherlands.

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May 2012

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Authors:
Alberta A H J Thiadens T My Lan Phan Renate C Zekveld-Vroon Bart P Leroy L Ingeborgh van den Born Carel B Hoyng Caroline C W Klaver Susanne Roosing Jan-Willem R Pott Mary J van Schooneveld Norka van Moll-Ramirez Maria M van Genderen Camiel J F Boon Anneke I den Hollander Arthur A B Bergen Elfride De Baere Frans P M Cremers Andrew J Lotery

Ophthalmology 2012 Apr 20;119(4):819-26. Epub 2012 Jan 20.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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April 2012

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Authors:
Alberta A H J Thiadens Gyan G Soerjoesing Ralph J Florijn A G Tjiam Anneke I den Hollander L Ingeborgh van den Born Frans C Riemslag Arthur A B Bergen Caroline C W Klaver

Graefes Arch Clin Exp Ophthalmol 2011 Oct 25;249(10):1527-35. Epub 2011 Aug 25.

Department of Ophthalmology, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

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October 2011

Genetic testing and clinical characterization of patients with cone-rod dystrophy.

Authors:
Alberta A H J Thiadens Caroline C W Klaver

Invest Ophthalmol Vis Sci 2010 Dec;51(12):6904-5; author reply 6905

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December 2010

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

Authors:
Alberta A H J Thiadens Ville Somervuo L Ingeborgh van den Born Susanne Roosing Mary J van Schooneveld Robert W A M Kuijpers Norka van Moll-Ramirez Frans P M Cremers Carel B Hoyng Caroline C W Klaver

Invest Ophthalmol Vis Sci 2010 Nov 23;51(11):5952-7. Epub 2010 Jun 23.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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November 2010

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Authors:
Maleeha Azam Rob W J Collin Syed Tahir Abbas Shah Aftab Ali Shah Muhammad Imran Khan Alamdar Hussain Ahmed Sadeque Tim M Strom Alberta A H J Thiadens Susanne Roosing Anneke I den Hollander Frans P M Cremers Raheel Qamar

Mol Vis 2010 Apr 29;16:774-81. Epub 2010 Apr 29.

Department of Biosciences, COMSATS Institute of Information Technology, Chak Shahzad, Islamabad, Pakistan.

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April 2010

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Authors:
Alberta A H J Thiadens Susanne Roosing Rob W J Collin Norka van Moll-Ramirez Janneke J C van Lith-Verhoeven Mary J van Schooneveld Anneke I den Hollander L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Ophthalmology 2010 Apr 15;117(4):825-30.e1. Epub 2010 Jan 15.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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April 2010

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Authors:
Alberta A H J Thiadens Anneke I den Hollander Susanne Roosing Sander B Nabuurs Renate C Zekveld-Vroon Rob W J Collin Elfride De Baere Robert K Koenekoop Mary J van Schooneveld Tim M Strom Janneke J C van Lith-Verhoeven Andrew J Lotery Norka van Moll-Ramirez Bart P Leroy L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Am J Hum Genet 2009 Aug 16;85(2):240-7. Epub 2009 Jul 16.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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August 2009

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Authors:
Alberta A H J Thiadens Niki W R Slingerland Susanne Roosing Mary J van Schooneveld Janneke J C van Lith-Verhoeven Norka van Moll-Ramirez L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Ophthalmology 2009 Oct 9;116(10):1984-9.e1. Epub 2009 Jul 9.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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October 2009

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

Authors:
Karin W Littink Maria M van Genderen Rob W J Collin Susanne Roosing Arjan P M de Brouwer Frans C C Riemslag Hanka Venselaar Alberta A H J Thiadens Carel B Hoyng Klaus Rohrschneider Anneke I den Hollander Frans P M Cremers L Ingeborgh van den Born

Invest Ophthalmol Vis Sci 2009 May 13;50(5):2344-50. Epub 2008 Dec 13.

Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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May 2009