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Carel Hoyng

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Alberta A H J Thiadens; L Ingeborgh Van Den Born; Riet Bernaerts-Biskop; Carel B Hoyng; Jan-Roelof Polling; Caroline C W Klaver
Accuracy of four commonly used color vision tests in the identification of cone disorders.
Mark J J P van Grinsven; Carel B Hoyng; Yara T E Lechanteur; Thomas Theelen; Johannes P H van de Ven; Bram van Ginneken; Clara I Sánchez
Automatic drusen quantification and risk assessment of age-related macular degeneration on color fundus images.
Barend F Hogewind; Carel B Hoyng; Shazia Micheal; Bjorn Bakker; Anneke I den Hollander
Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension.

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2013: Alberta A H J Thiadens; L Ingeborgh Van Den Born; Riet Bernaerts-Biskop; Carel B Hoyng; Jan-Roelof Polling; Caroline C W Klaver
Accuracy of four commonly used color vision tests in the identification of cone disorders.
Ophthalmic epidemiology 2013;20(2):114-21.
2013: Mark J J P van Grinsven; Carel B Hoyng; Yara T E Lechanteur; Thomas Theelen; Johannes P H van de Ven; Bram van Ginneken; Clara I Sánchez
Automatic drusen quantification and risk assessment of age-related macular degeneration on color fundus images.
Investigative ophthalmology & visual science 2013;54(4):3019-27.
2012: Barend F Hogewind; Carel B Hoyng; Shazia Micheal; Bjorn Bakker; Anneke I den Hollander
Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension.
Ophthalmic genetics 2012;33(4):221-4.
2012: Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology 2012;130(11):1425-32.
2012: Dzenita Smailhodzic; Johannes P H Van de Ven; Alice Yang Zhang; John Chen; Sascha Fauser; Carel B Hoyng; Jan E E Keunen; Bernd Kirchhof; B Jeroen Klevering; Robert K Koenekoop; Angela Kwestro; Philipp S Muether; Amer Omar; Anneke I den Hollander
Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration.
Ophthalmology 2012;119(11):2304-11.
2012: Albert Caramoy; Katharina Dröge; Jonathan Foerster; Carel B Hoyng; Bernd Kirchhof; Elvira Allakhiarova; Sascha Fauser
Spectral-domain optical coherence tomography in subjects over 60 years of age, and its implications for designing clinical trials.
The British journal of ophthalmology 2012;96(10):1325-30.
2012: Susanne Kohl; Robert Lukowski; Françoise Meire; Frans C C Riemslag; Susanne Roosing; Simone Schaich; Maria van Genderen; Sylvia Bolz; Christina Brennenstuhl; Frauke Coppieters; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Bernd Wissinger
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
American journal of human genetics 2012;91(3):527-32.
2012: Johannes P H van de Ven; Camiel J F Boon; Anneke I den Hollander; Carel B Hoyng; Yara T E Lechanteur; Dženita Smailhodzic; Thomas Theelen
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography.
American journal of ophthalmology 2012;154(3):560-7.
2012: Yara T E Lechanteur; Dzenita Smailhodzic; Johannes P H van de Ven; Gert-Jan van der Wilt; Anneke I den Hollander; Camiel J F Boon; Sascha Fauser; Joannes M M Groenewoud; B Jeroen Klevering; Carel B Hoyng
Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration.
Investigative ophthalmology & visual science 2012;53(9):5846-52.
2012: Johannes P H van de Ven; Camiel J F Boon; Anneke I den Hollander; Sascha Fauser; Lies H Hoefsloot; Caroline C W Klaver; Jeroen Klevering; Frederieke Schoenmaker-Koller; Dzenita Smailhodzic; Carel B Hoyng
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.
Archives of ophthalmology 2012;130(8):1038-47.
2012: Sarah C Westeneng-van Haaften; Camiel J F Boon; Frans P M Cremers; Anneke I den Hollander; Lies H Hoefsloot; Carel B Hoyng
Clinical and genetic characteristics of late-onset Stargardt's disease.
Ophthalmology 2012;119(6):1199-210.
2012: Kornelia Neveling; Anna M Siemiatkowska; L Ingeborgh Van Den Born; Ramon A C van Huet; Joris Veltman; Linda Visser; Nienke Wieskamp; Marijke N Zonneveld; Kari E H Branham; Michael F Buckley; Rob W J Collin; Frans P M Cremers; Joep de Ligt; Anneke I den Hollander; Sabine J Gijsen; Christian Gilissen; Lies Hoefsloot; Alexander Hoischen; Carel B Hoyng; Ulrich Kellner; B Jeroen Klevering; Michael P Kwint; Hans Scheffer
Next-generation genetic testing for retinitis pigmentosa.
Human mutation 2012;33(6):963-72.
2012: Alberta A H J Thiadens; L Ingeborgh Van Den Born; Maria M van Genderen; Norka van Moll-Ramirez; Mary J van Schooneveld; Renate C Zekveld-Vroon; T My Lan Phan; Jan Willem R Pott; Susanne Roosing; Arthur A B Bergen; Camiel J F Boon; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Caroline C W Klaver; Bart P Leroy; Andrew J Lotery
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012;119(4):819-26.
2012: Dzenita Smailhodzic; Bernd Kirchhof; Caroline C W Klaver; B Jeroen Klevering; Camiel J F Boon; Mohamed R Daha; Anneke I den Hollander; Joannes M M Groenewoud; Carel B Hoyng
Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration.
Ophthalmology 2012;119(2):339-46.
2012: Johannes P H van de Ven; Camiel J F Boon; N Victor Chong; Sascha Fauser; Joannes M M Groenewoud; Carel B Hoyng; B Jeroen Klevering; Dženita Smailhodzic; Anneke I den Hollander
Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.
Molecular vision 2012;18():2271-8.
2011: Bernd Wissinger; Christiane Wolf; Ditta Zobor; Eberhart Zrenner; Monika Andrassi-Darida; Britta Baumann; Antje Bernd; Michael Bonin; Frans P M Cremers; Elfride De Baere; Hélène Dollfus; Enyedi Peter; Christoph Friedburg; John R Heckenlively; Carel B Hoyng; Herbert Jägle; Ulrich Kellner; Bart P Leroy; Birgit Lorenz; Astrid Plomp; Thomas Rosenberg; Günter Rudolph; Roberto Salati; Alexandra Sauer; Simone Schaich; Balázs Varsányi; Susanne Kohl
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Human mutation 2011;32(12):1398-406.
2011: Dženita Smailhodzic; Thomas Theelen; Johannes P H van de Ven; Ramon A C van Huet; Bernhard H F Weber; Camiel J F Boon; Anneke I den Hollander; Monika Fleckenstein; Frank G Holz; Carel B Hoyng; Steffen Schmitz-Valckenberg; B Jeroen Klevering
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Investigative ophthalmology & visual science 2011;52(12):8908-18.
2011: Cornelis A Verezen; C F M Meulendijks; Carel B Hoyng; Jan E E Keunen; B Jeroen Klevering
Eccentric gaze direction in patients with central field loss.
Optometry and vision science : official publication of the American Academy of Optometry 2011;88(10):1164-71.
2011: Rıza Köksal Ozgül; Dror Sharon; Wei Shen; Anna M Siemiatkowska; L Ingeborgh Van Den Born; Didem Yücel; Marijke N Zonneveld; Eyal Banin; Avigail Beryozkin; Ron Bose; Rob W J Collin; Frans P M Cremers; Anneke I den Hollander; Carel B Hoyng; B Jeroen Klevering; connie anne myers; Joseph C Corbo
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
American journal of human genetics 2011;89(2):253-64.
2011: Sascha Fauser; Carel B Hoyng; Bernd Kirchhof; B Jeroen Klevering; Sandra Liakopoulos; Dzenita Smailhodzic; Johannes P H van de Ven; Albert Caramoy; Anneke I den Hollander
Evaluation of serum lipid concentrations and genetic variants at high-density lipoprotein metabolism loci and TIMP3 in age-related macular degeneration.
Investigative ophthalmology & visual science 2011;52(8):5525-8.
2011: Rob W J Collin; L Ingeborgh Van Den Born; B Jeroen Klevering; Marta de Castro Miró; Karin W Littink; Kentar Arimadyo; Maleeha Azam; Volkan Yazar; Marijke N Zonneveld; Codrut C Paun; Anna M Siemiatkowska; Tim M Strom; Jayne Y Hehir-Kwa; Hester Y Kroes; Jan-Tjeerd H N de Faber; Mary J van Schooneveld; John R Heckenlively; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Investigative ophthalmology & visual science 2011;52(5):2227-39.
2011: Alejandro Estrada-Cuzcano; Robert K Koenekoop; Frauke Coppieters; Susanne Kohl; Irma Lopez; Rob W J Collin; Elfride B W De Baere; Debbie Roeleveld; Jonah Marek; Antje Bernd; Klaus Rohrschneider; L Ingeborgh Van Den Born; Françoise Meire; Irene H Maumenee; Samuel G Jacobson; Carel B Hoyng; Eberhart Zrenner; Frans P M Cremers; Anneke I den Hollander
IQCB1 mutations in patients with leber congenital amaurosis.
Investigative ophthalmology & visual science 2011;52(2):834-9.
2010: 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
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Investigative ophthalmology & visual science 2010;51(11):5952-7.
2010: Karin W Littink; Robert K Koenekoop; L Ingeborgh Van Den Born; Rob W J Collin; Luminita Moruz; Joris Veltman; Susanne Roosing; Marijke N Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y Kroes; Maria M van Genderen; Carel B Hoyng; Klaus Rohrschneider; Mary J van Schooneveld; Frans P M Cremers; Anneke I den Hollander
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Investigative ophthalmology & visual science 2010;51(11):5943-51.
2010: Karin W Littink; L Ingeborgh Van Den Born; Robert K Koenekoop; Rob W J Collin; Marijke N Zonneveld; Ellen A W Blokland; Hayat Khan; Thomas Theelen; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; B Jeroen Klevering
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Ophthalmology 2010;117(10):2026-33, 2033.e1-7.
2010: Judith C Booij; Camiel J F Boon; Mary J van Schooneveld; Jacoline B ten Brink; Arne Bakker; Paulus T V M de Jong; Carel B Hoyng; Arthur A B Bergen; Caroline C W Klaver
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Ophthalmology 2010;117(7):1415-22.
2010: Karin W Littink; Jan Willem R Pott; Rob W J Collin; Hester Y Kroes; Joke B G M Verheij; Ellen A W Blokland; Marta de Castro Miró; Carel B Hoyng; Caroline C W Klaver; Robert K Koenekoop; Klaus Rohrschneider; Frans P M Cremers; L Ingeborgh Van Den Born; Anneke I den Hollander
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Investigative ophthalmology & visual science 2010;51(7):3646-52.
2010: 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
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Ophthalmology 2010;117(4):825-30.e1.
2010: Barend F T Hogewind; Arijit Mukhopadhyay; Thomas Theelen; Anneke I Den Hollander; Carel B Hoyng
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma.
Current eye research 2010;35(1):31-6.
2009: Thomas Theelen; Tos T J M Berendschot; Carel B Hoyng; Camiel J F Boon; B Jeroen Klevering
Near-infrared reflectance imaging of neovascular age-related macular degeneration.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2009;247(12):1625-33.
2009: 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
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Ophthalmology 2009;116(10):1984-9.e1.
2009: 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
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
American journal of human genetics 2009;85(2):240-7.
2009: Camiel J F Boon; Thomas Theelen; Carel B Hoyng
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
American journal of ophthalmology 2009;148(1):173-4; author reply 174-5.
2009: Camiel J F Boon; Thomas Theelen; Lies Hoefsloot; Mary J van Schooneveld; Jan E E Keunen; Frans P M Cremers; B Jeroen Klevering; Carel B Hoyng
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
Retina (Philadelphia, Pa.) 2009;29(6):835-47.
2009: Camiel J F Boon; B Jeroen Klevering; Bart P Leroy; Carel B Hoyng; Jan E E Keunen; Anneke I den Hollander
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Progress in retinal and eye research 2009;28(3):187-205.
2009: Camiel J F Boon; Nicole C A J van de Kar; B Jeroen Klevering; Jan E E Keunen; Frans P M Cremers; Caroline C W Klaver; Carel B Hoyng; Mohamed R Daha; Anneke I den Hollander
The spectrum of phenotypes caused by variants in the CFH gene.
Molecular immunology 2009;46(8-9):1573-94.
2009: Karin W Littink; Maria M van Genderen; Rob W J Collin; Susanne Roosing; Arjan 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
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Investigative ophthalmology & visual science 2009;50(5):2344-50.
2009: Camiel J F Boon; B Jeroen Klevering; Frans P M Cremers; Marijke N Zonneveld-Vrieling; Thomas Theelen; Anneke I den Hollander; Carel B Hoyng
Central areolar choroidal dystrophy.
Ophthalmology 2009;116(4):771-82, 782.e1.
2009: Hui Wang; Anneke I den Hollander; Yalda Moayedi; Abuduaini Abulimiti; Yumei Li; Rob W J Collin; Carel B Hoyng; Irma Lopez; Emad B Abboud; Ali A Al-Rajhi; Molly S Bray; Richard Alan Lewis; James R Lupski; Graeme Mardon; Robert K Koenekoop; Rui Chen
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
American journal of human genetics 2009;84(3):380-7.
2009: Paul J G Ernest; Camiel J F Boon; B Jeroen Klevering; Lies Hoefsloot; Carel B Hoyng
Outcome of ABCA4 microarray screening in routine clinical practice.
Molecular vision 2009;15():2841-7.
2008: Rob W J Collin; Karin W Littink; B Jeroen Klevering; L Ingeborgh Van Den Born; Robert K Koenekoop; Marijke N Zonneveld; Ellen A W Blokland; Tim M Strom; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
American journal of human genetics 2008;83(5):594-603.
2008: Thomas Theelen; Camiel Boon; B Jeroen Klevering; Carel B Hoyng
[Fundus autofluorescence in patients with inherited retinal diseases : patterns of fluorescence at two different wavelengths].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2008;105(11):1013-22.
2008: Camiel Boon; B Jeroen Klevering; Jan E E Keunen; Carel B Hoyng; Thomas Theelen
Fundus autofluorescence imaging of retinal dystrophies.
Vision research 2008;48(26):2569-77.
2008: Thomas Theelen; Carel B Hoyng
Intravenous diclofenac as prophylactic treatment for verteporfin-associated low back pain.
European journal of ophthalmology 2008;18(5):805-8.
2008: Camiel Boon; Niels Crama; B Jeroen Klevering; Frederik J van Kuijk; Carel B Hoyng
Reflux after intravitreal injection of bevacizumab.
Ophthalmology 2008;115(7):1270; author reply 1271.
2008: Johannes Vingerling; Sarah Owens; Willem I van der Meijden; Carel B Hoyng; Alan C Bird
Hypopigmentary fundus changes with cutaneous vitiligo.
Archives of ophthalmology 2008;126(3):439.
2008: Camiel Boon; Anneke I den Hollander; Carel B Hoyng; Frans P M Cremers; B Jeroen Klevering; Jan E E Keunen
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.
Progress in retinal and eye research 2008;27(2):213-35.
2008: Camiel Boon; B Jeroen Klevering; Carel B Hoyng; Marijke N Zonneveld-Vrieling; Sander B Nabuurs; Ellen Blokland; Frans P M Cremers; Anneke I den Hollander
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
American journal of human genetics 2008;82(2):516-23.
2008: Thomas Theelen; T T J M Berendschot; Camiel Boon; Carel B Hoyng; B Jeroen Klevering
Analysis of visual pigment by fundus autofluorescence.
Experimental eye research 2008;86(2):296-304.
2008: B F Hogewind; G Pieters; Carel B Hoyng
Octreotide acetate in dominant cystoid macular dystrophy.
European journal of ophthalmology 2008;18(1):99-103.
2007: Arijit Mukhopadhyay; Barend F Th Hogewind; Thomas Theelen; Frans P M Cremers; Carel B Hoyng
Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma.
Human genetics 2007;122(5):553.
2007: K J M Maaijwee; C F M Meulendijks; W Radner; J C van Meurs; Carel B Hoyng
[The Dutch version of the Radner Reading Chart for assessing vision function].
Nederlands tijdschrift voor geneeskunde 2007;151(45):2494-7.
2007: Camiel Boon; Mary J van Schooneveld; Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Marijke N Zonneveld-Vrieling; Thomas Theelen; Frans P M Cremers; Carel B Hoyng; B Jeroen Klevering
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
The British journal of ophthalmology 2007;91(11):1504-11.
2007: Camiel Boon; B Jeroen Klevering; Anneke I den Hollander; Marijke N Zonneveld; Thomas Theelen; Frans P M Cremers; Carel B Hoyng
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Archives of ophthalmology 2007;125(8):1100-6.
2007: Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Maarten L Arends; Tim M Strom; Frans P M Cremers; Carel B Hoyng
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
Archives of ophthalmology 2007;125(7):932-5.
2007: Barend F T Hogewind; Katarina Gaplovska-Kysela; Thomas Theelen; Frans P M Cremers; Gary Hin-Fai Yam; Carel B Hoyng; Arijit Mukhopadhyay
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.
Molecular vision 2007;13():1793-801.
2006: Anneke I den Hollander; Robert K Koenekoop; Suzanne Yzer; Irma Lopez; Maarten L Arends; Krysta Voesenek; Marijke N Zonneveld; Tim M Strom; Thomas Meitinger; Han G Brunner; Carel B Hoyng; L Ingeborgh Van Den Born; Klaus Rohrschneider; Frans P M Cremers
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
American journal of human genetics 2006;79(3):556-61.
2006: Arijit Mukhopadhyay; Konstantinos Nikopoulos; Alessandra Maugeri; Arjan de Brouwer; C Eric van Nouhuys; Camiel Boon; Rahat Perveen; Hester A A Zegers; Dienke Wittebol-Post; Pieter R van den Biesen; Saskia D van der Velde-Visser; Han G Brunner; Graeme C M Black; Carel B Hoyng; Frans P M Cremers
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Investigative ophthalmology & visual science 2006;47(8):3565-72.
2006: Cornelis A Verezen; C F M Meulendijks; Carel B Hoyng; B Jeroen Klevering
Long-term evaluation of eccentric viewing spectacles in patients with bilateral central scotomas.
Optometry and vision science : official publication of the American Academy of Optometry 2006;83(2):88-95.
2005: Christina Zeitz; Maria van Genderen; John Neidhardt; Ulrich Luhmann; Frank Hoeben; Ursula Forster; Katharina Wycisk; Gábor Mátyás; Carel B Hoyng; Frans Riemslag; Françoise Meire; Frans P M Cremers; Wolfgang Berger
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Investigative ophthalmology & visual science 2005;46(11):4328-35.
2005: Sioe Lie Go; Carel B Hoyng; Caroline C W Klaver
Genetic risk of rhegmatogenous retinal detachment: a familial aggregation study.
Archives of ophthalmology 2005;123(9):1237-41.
2005: Christina Zeitz; Roberta Minotti; Silke Feil; Gábor Mátyás; Frans P M Cremers; Carel B Hoyng; Wolfgang Berger
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Molecular vision 2005;11():179-83.
2005: Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Ágnes Farkas; sten andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Hélène Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG 2005;13(3):302-8.
2005: B Jeroen Klevering; August F Deutman; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2005;243(2):90-100.
2005: José A J M van den Hurk; Penny Rashbass; Ronald Roepman; Jason Davis; Krysta Voesenek; Maarten L Arends; Marijke N Zonneveld; Marga H G van Roekel; Karen Cameron; Klaus Rohrschneider; John R Heckenlively; Robert K Koenekoop; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Molecular vision 2005;11():263-73.
2004: Alessandra Maugeri; Françoise Meire; Carel B Hoyng; Carolien Vink; Nicole Van Regemorter; Goutam Karan; Zhenglin Yang; Frans P M Cremers; Kang Zhang
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Investigative ophthalmology & visual science 2004;45(12):4263-7.
2004: B Jeroen Klevering; Suzanne Yzer; Klaus Rohrschneider; Marijke N Zonneveld; Rando Allikmets; L Ingeborgh Van Den Born; Alessandra Maugeri; Carel B Hoyng; Frans P M Cremers
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
European journal of human genetics : EJHG 2004;12(12):1024-32.
2004: Anneke I den Hollander; Jason Davis; Saskia D van der Velde-Visser; Marijke N Zonneveld; Chiara O Pierrottet; Robert K Koenekoop; Ulrich Kellner; L Ingeborgh Van Den Born; John R Heckenlively; Carel B Hoyng; Penny A Handford; Ronald Roepman; Frans P M Cremers
CRB1 mutation spectrum in inherited retinal dystrophies.
Human mutation 2004;24(5):355-69.
2004: Thomas Theelen; Sioe Lie Go; Maurits A D Tilanus; B Jeroen Klevering; August F Deutman; Frans P M Cremers; Carel B Hoyng
Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2004;242(10):892-7.
2004: Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Ferry F J Kersten; J G A M Heister; Carolien G F de Kovel; August F Deutman; Carel B Hoyng; Frans P M Cremers
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.
Journal of medical genetics 2004;41(9):699-702.
2004: Johannes Vingerling; S Owens; W I van der Meijden; Carel B Hoyng; A C Bird
Cutaneous vitiligo associated with choroidal hypopigmentation.
Eye (London, England) 2004;18(9):939-40.
2004: Matthew B B McCall; Janneke J C van Lith-Verhoeven; Reinout van Crevel; N Crama; Peter P Koopmans; Carel B Hoyng; Andre J A M van der Ven
Ocular syphilis acquired through oral sex in two HIV-infected patients.
The Netherlands journal of medicine 2004;62(6):206-8.
2004: B Jeroen Klevering; Alessandra Maugeri; Anja Wagner; Sioe Lie Go; Carolien Vink; Frans P M Cremers; Carel B Hoyng
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Ophthalmology 2004;111(3):546-53.
2004: Leandra J M de Winter; Carel B Hoyng; Paul G A M Froeling; C F M Meulendijks; Gert Jan van der Wilt
Prevalence of remediable disability due to low vision among institutionalised elderly people.
Gerontology 2004;50(2):96-101.
2004: Frans P M Cremers; Alessandra Maugeri; Anneke I den Hollander; Carel B Hoyng
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Novartis Foundation symposium 2004;255():68-79; discussion 79-84, 177-8.
2004: Michiel M Zandbelt; Peter C M de Wilde; Philip van Damme; Carel B Hoyng; L B A Van De Putte; Frank van den Hoogen
Etanercept in the treatment of patients with primary Sjögren's syndrome: a pilot study.
The Journal of rheumatology 2004;31(1):96-101.
2004: Janneke J C van Lith-Verhoeven; Carel B Hoyng; Bellinda van den Helm; August F Deutman; Hendrik M A Brink; Martijn H Kemperman; Wendy H M de Jong; Hannie Kremer; Frans P M Cremers
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
Investigative ophthalmology & visual science 2004;45(1):30-5.
2003: K Jaakson; Jana Zernant; Maigi Külm; A Hutchinson; N Tonisson; Damjan Glavac; Metka Ravnik-Glavac; M Hawlina; M R Meltzer; R C Caruso; Francesco Testa; Alessandra Maugeri; Carel B Hoyng; Peter Gouras; Francesca Simonelli; R A Lewis; J R Lupski; Frans P M Cremers; Rando Allikmets
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Human mutation 2003;22(5):395-403.
2003: Janneke J C van Lith-Verhoeven; Bellinda van den Helm; August F Deutman; Arthur A B Bergen; Frans P M Cremers; Carel B Hoyng; Paulus T V M de Jong
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
Archives of ophthalmology 2003;121(10):1452-7.
2003: Sioe Lie Go; Alessandra Maugeri; Jef J S Mulder; Marc A van Driel; Frans P M Cremers; Carel B Hoyng
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
Investigative ophthalmology & visual science 2003;44(9):4035-43.
2003: Janneke J C van Lith-Verhoeven; Frans P M Cremers; Bellinda van den Helm; Carel B Hoyng; August F Deutman
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
Molecular vision 2003;9():138-43.
2002: Frans P M Cremers; Alessandra Maugeri; B Jeroen Klevering; Lies Hoefsloot; Carel B Hoyng
[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].
Nederlands tijdschrift voor geneeskunde 2002;146(34):1581-4.
2002: Lotje H Bosch-Driessen; Frank D Verbraak; Maria S A Suttorp-Schulten; Rutger L J van Ruyven; Anne Marie Klok; Carel B Hoyng; Aniki Rothova
A prospective, randomized trial of pyrimethamine and azithromycin vs pyrimethamine and sulfadiazine for the treatment of ocular toxoplasmosis.
American journal of ophthalmology 2002;134(1):34-40.
2002: B Jeroen Klevering; Anita Blankenagel; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng; Klaus Rohrschneider
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Investigative ophthalmology & visual science 2002;43(6):1980-5.
2002: Carel B Hoyng; Antoine I Tromp; C F M Meulendijks; Anita Leys; Richard W M van der Maazen; August F Deutman; Johannes Vingerling
Side effects after radiotherapy of age-related macular degeneration with the Nijmegen technique.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(5):337-41.
2002: Heidi Schulz; Heidi Stoehr; Karen White; Marc A van Driel; Carel B Hoyng; Frans Cremers; Bernhard H F Weber
Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.
Molecular vision 2002;8():67-71.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: Janneke J C van Lith-Verhoeven; Saskia D van der Velde-Visser; M M Sohocki; August F Deutman; H M A Brink; Frans P M Cremers; Carel B Hoyng
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
Ophthalmic genetics 2002;23(1):1-12.
2002: B Jeroen Klevering; Marc A van Driel; August J M van Hogerwou; Dorien J R van De Pol; August F Deutman; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng
Central areolar choroidal dystrophy associated with dominantly inherited drusen.
The British journal of ophthalmology 2002;86(1):91-6.
2001: Bernd Wissinger; Daphne Gamer; Herbert Jägle; R Giorda; T Marx; S Mayer; Sabine Tippmann; Martina Broghammer; Bernhard Jurklies; Thomas Rosenberg; Samuel G Jacobson; E C Sener; S Tatlipinar; Carel B Hoyng; C Castellan; Pierre Bitoun; sten andreasson; Günther Rudolph; Ulrich Kellner; Birgit Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; Frans P M Cremers; Eckart Apfelstedt-Sylla; Eberhart Zrenner; Roberto Salati; Lindsay T Sharpe; Susanne Kohl
CNGA3 mutations in hereditary cone photoreceptor disorders.
American journal of human genetics 2001;69(4):722-37.
2001: Arthur B McKie; John McHale; T Jeffrey Keen; Emma E Tarttelin; R Goliath; Janneke J C van Lith-Verhoeven; Jacquie Greenberg; Rajkumar Ramesar; Carel B Hoyng; Frans P M Cremers; David A Mackey; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: Anneke I den Hollander; John R Heckenlively; L Ingeborgh Van Den Born; Yvette J M de Kok; Saskia D van der Velde-Visser; Ulrich Kellner; Bernhard Jurklies; Mary J van Schooneveld; Anita Blankenagel; Klaus Rohrschneider; Bernd Wissinger; J R M Cruysberg; August F Deutman; Han G Brunner; Eckart Apfelstedt-Sylla; Carel B Hoyng; Frans P M Cremers
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
American journal of human genetics 2001;69(1):198-203.
2000: Alessandra Maugeri; B Jeroen Klevering; Klaus Rohrschneider; Anita Blankenagel; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
American journal of human genetics 2000;67(4):960-6.
2000: Maurits A D Tilanus; W Vaandrager; MH Cuypers; A M Verbeek; Carel B Hoyng
Relationship between anticoagulant medication and massive intraocular hemorrhage in age-related macular degeneration.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2000;238(6):482-5.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: B Jeroen Klevering; Marc A van Driel; Dorien J R van De Pol; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
The British journal of ophthalmology 1999;83(8):914-8.
1999: Anneke I den Hollander; MA van Driel; Yvette J M de Kok; Dorien J R van De Pol; Carel B Hoyng; Han G Brunner; August F Deutman; Frans P M Cremers
Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
Genomics 1999;58(3):240-9.
1999: Alessandra Maugeri; MA van Driel; Dorien J R van De Pol; B Jeroen Klevering; F J van Haren; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; N Dahl; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
American journal of human genetics 1999;64(4):1024-35.
1999: Anneke I den Hollander; Saskia D van der Velde-Visser; Alfred J L G Pinckers; Carel B Hoyng; Han G Brunner; Frans P M Cremers
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
Human genetics 1999;104(1):73-6.
1998: Jenny V Ongkosuwito; EJ Feron; C E van Doornik; Allegonda Van der Lelij; Carel B Hoyng; Ellen C La Heij; Aize Kijlstra
Analysis of immunoregulatory cytokines in ocular fluid samples from patients with uveitis.
Investigative ophthalmology & visual science 1998;39(13):2659-65.
1998: MA van Driel; Alessandra Maugeri; B Jeroen Klevering; Carel B Hoyng; Frans P M Cremers
ABCR unites what ophthalmologists divide(s)
Ophthalmic genetics 1998;19(3):117-22.
1998: Frank D Verbraak; M Bruinenberg; Gerardus J van den Horn; Christina Meenken; Allegonda Van der Lelij; Carel B Hoyng; Aize Kijlstra; Ron Peek
Cytomegalovirus (CMV) strain differences between the eye and blood in AIDS patients with CMV retinitis.
AIDS (London, England) 1998;12(7):713-8.
1998: G J Bergink; Carel B Hoyng; Richard W M van der Maazen; Johannes Vingerling; Willem A J van Daal; August F Deutman
A randomized controlled clinical trial on the efficacy of radiation therapy in the control of subfoveal choroidal neovascularization in age-related macular degeneration: radiation versus observation.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1998;236(5):321-5.
1998: Jenny V Ongkosuwito; Allegonda Van der Lelij; M Bruinenberg; M Wienesen-van Doorn; EJ Feron; Carel B Hoyng; R J W De Keizer; Anne Marie Klok; Aize Kijlstra
Increased presence of Epstein-Barr virus DNA in ocular fluid samples from HIV negative immunocompromised patients with uveitis.
The British journal of ophthalmology 1998;82(3):245-51.
1998: Frans P M Cremers; Dorien J R van De Pol; MA van Driel; Anneke I den Hollander; F J van Haren; Nine V A M Knoers; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; August F Deutman; Carel B Hoyng
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
Human molecular genetics 1998;7(3):355-62.
1998: S Gerber; J M Rozet; T J R van de Pol; Carel B Hoyng; Arnold Munnich; Anita Blankenagel; J Kaplan; Frans P M Cremers
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
Genomics 1998;48(1):139-42.
1998: Carel B Hoyng; Maurits A D Tilanus; August F Deutman
Atypical central lesions in serpiginous choroiditis treated with oral prednisone.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1998;236(2):154-6.
1998: Carel B Hoyng; C A Verezen; P T de Jong
[Vision rehabilitation of patients with old-age macular degeneration].
Nederlands tijdschrift voor geneeskunde 1998;142(4):164-9.
1996: Carel B Hoyng; P M van Rijn; August F Deutman
Central areolar choroidal dystrophy and slowly progressive sensorineural hearing loss.
Acta ophthalmologica Scandinavica 1996;74(6):639-41.
1996: Carel B Hoyng; F Poppelaars; T J van de Pol; H Kremer; Alfred J L G Pinckers; August F Deutman; Frans P M Cremers
Genetic fine mapping of the gene for recessive Stargardt disease.
Human genetics 1996;98(4):500-4.
1996: C A Verezen; H J Völker-Dieben; Carel B Hoyng
Eccentric viewing spectacles in everyday life, for the optimum use of residual functional retinal areas, in patients with age-related macular degeneration.
Optometry and vision science : official publication of the American Academy of Optometry 1996;73(6):413-7.
1996: Carel B Hoyng; Peter Heutink; L Testers; A Pinckers; August F Deutman; B A Oostra
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
American journal of ophthalmology 1996;121(6):623-9.
1996: Carel B Hoyng; August F Deutman
The development of central areolar choroidal dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1996;234(2):87-93.
1996: G J Bergnik; Carel B Hoyng; R W van der Maazen; August F Deutman; Willem A J van Daal
Visual acuity and scar size in eyes with age-related subfoveal choroidal neovascular lesions, 30 months after radiation therapy.
Documenta ophthalmologica. Advances in ophthalmology 1996;92(1):61-75.
1995: C C Klaver; Carel B Hoyng; Paulus T V M de Jong
Pigmentary irregularities and optic disc edema after heart transplantation.
Archives of ophthalmology 1995;113(10):1281-5.
1992: Carel B Hoyng; A Pinckers; August F Deutman
Juvenile atrophy of pigment epithelium and choriocapillaris.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1992;230(3):230-2.
1991: M D Tilanus; Carel B Hoyng; August F Deutman; J R M Cruysberg; Albert L Aandekerk
Congenital arteriovenous communications and the development of two types of leaking retinal macroaneurysms.
American journal of ophthalmology 1991;112(1):31-3.
1990: Carel B Hoyng; Alfred J L G Pinckers; August F Deutman
Early findings in central areolar choroidal dystrophy.
Acta ophthalmologica 1990;68(3):356-60.
1989: August F Deutman; F Hendikse; Carel B Hoyng
[Treatment of choroidal neovascularization in degenerative myopia].
Ophtalmologie : organe de la Société française d'ophtalmologie 1989;3(4):299-301.