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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

ARVO Annual Meeting Abstract June 2022

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Isa van der Veen; Leo Hahn; Michalis Georgiou; Mary J. van Schooneveld; Jacoline B ten Brink; Ralph J. Florijn; Annette Ossewaarde-van Norel; Omar Abdul Rahman Mahroo; Emanuel de Carvalho; Arthur A. Bergen; Michel Michaelides; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1785 – F0334.

ARVO Annual Meeting Abstract June 2022

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B ten Brink; Ine Strubbe; Magda M. Meester-Smoor; Alberta A H J Thiadens; Roselie M.H. Diederen; Caroline C W Klaver; Carel C B Hoyng; Mies M. van Genderen; Bart P Leroy; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3319 – F0128.

ARVO Annual Meeting Abstract June 2022

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

Jessica Serena Karuntu; Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Mies M. van Genderen; Nicoline E. Schalij-Delfos; Caroline C W Klaver; Ralph J. Florijn; Jacoline B ten Brink; Magda M. Meester-Smoor; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta A H J Thiadens; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4479 – F0266.

ARVO Annual Meeting Abstract June 2021

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

Camiel J F Boon; Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B. ten Brink; Ine Strubbe; Michel H. Hof; Magda Meester-Smoor; Caroline C. W. Klaver; Alberta A. Thiadens; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Maria M. van Genderen; Bart P Leroy; Arthur A.B. Bergen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2172.

ARVO Annual Meeting Abstract June 2021

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

Leo Hahn; Mary J. van Schooneveld; Michalis Georgiou; Magda Meester-Smoor; Andrew J Lotery; Maria M. van Genderen; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Caroline C. W. Klaver; Susan M Downes; Martin McKibbin; Arthur A.B. Bergen; Bart Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1544.

ARVO Annual Meeting Abstract June 2020

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Maria M. van Genderen; Ralph J. Florijn; Jacoline ten Brink; Frans P Cremers; Magda A. Meester; Caroline Klaver; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta Thiadens; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3051.

Articles August 2019

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

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Mays Talib; Mary J. van Schooneveld; Roos J. G. van Duuren; Caroline Van Cauwenbergh; Jacoline B. ten Brink; Elfride De Baere; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: follow-up, genetics, mutation, phenotype, retinal degeneration, respiratory distress syndrome, newborn, eye, visual impairment
Trans. Vis. Sci. Tech.. 2019; 8(4):24. https://doi.org/10.1167/tvst.8.4.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

A registry and research database for retinal dystrophies – the RD5000 database

Magda Meester; Maikel Vermeer; Camiel Boon; Maria M. van Genderen; Carel C B Hoyng; Frans P Cremers; Clasien Oomen; Alberta A H J Thiadens; Jan-Willem R. Pott; Mary J van Schooneveld; Caroline C W Klaver; L. Ingeborgh van den Born

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3962.

ARVO Annual Meeting Abstract July 2019

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

Xuan-Thanh-An Nguyen; Mays Talib; Mary J van Schooneveld; Caroline Van Cauwenbergh; Jacoline B ten Brink; Ralph J Florijn; Nicoline Schalij-Delfos; Maria M. van Genderen; Frans P Cremers; L. Ingeborgh van den Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Bart P Leroy; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4505.

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. https://doi.org/10.1167/iovs.18-24817

Includes: Supplemental Content

Retina August 2018

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

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Mays Talib; Mary J. van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B. ten Brink; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Gislin Dagnelie; Maria M. van Genderen; Elfride De Baere; Magda A. Meester-Smoor; Julie De Zaeytijd; Frans P. M. Cremers; L. Ingeborgh van den Born; Alberta A. Thiadens; Carel B. Hoyng; Caroline C. Klaver; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: genes, heterozygote, phenotype, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. https://doi.org/10.1167/iovs.17-23453

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

RPGR -associated retinal dystrophies: a longitudinal study

Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Nicoline Schalij-Delfos; Ralph J. Florijn; Ingeborgh Van Den Born; Frans P Cremers; Alberta A H J Thiadens; Carel C B Hoyng; Caroline Klaver; Arthur Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2012.

ARVO Annual Meeting Abstract September 2016

Natural history study of RPE65 associated autosomal recessive retinal dystrophies.

Laurence Pierrache; suzanne yzer; Maria M. van Genderen; José Schuil; Nienke Boonstra; Jan-Willem R Pott; Mary J. van Schooneveld; Frans P Cremers; Caroline C W Klaver; Ingeborgh Van Den Born

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):150.

ARVO Annual Meeting Abstract June 2015

Congenital hearing loss is associated with earlier visual decline in USH2A retinitis pigmentosa

Laurence Pierrache; Magda Meester; Carel C B Hoyng; Arthur A Bergen; Mary J van Schooneveld; Bart Peter Leroy; L Ingeborgh Van Den Born; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3798.

ARVO Annual Meeting Abstract March 2012

A Novel Strategy For Fast And Cost-effective Mutation Detection In Retinitis Pigmentosa Genes Using Next Generation Sequencing

Ralph J. Florijn; Renate C. Zekveld-Vroon; Arne Bakker; Martin A. Haagmans; Jaroslav Skokan; Mary J. van Schooneveld; Olaf R. Mook; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4518.

ARVO Annual Meeting Abstract April 2011

Homozygosity Mapping, Haplotype Tagging an Direct Sequencing reveal New Mutations in Retinitis Pigmentosa disease genes

Renate C. Zekveld-Vroon; Arne Bakker; Mary J. van Schooneveld; Ralph J. Florijn; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5407.

Biochemistry and Molecular Biology April 2011

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

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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
TAGS: autosomal recessive inheritance, dutch, homozygote, mutation, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(5):2227-2239. https://doi.org/10.1167/iovs.10-6185

Retina November 2010

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

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Karin W. Littink; Robert K. Koenekoop; L. Ingeborgh van den Born; Rob W. J. Collin; Luminita Moruz; Joris A. 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
TAGS: homozygote, mutation, progressive cone-rod dystrophy, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2010; 51(11):5943-5951. https://doi.org/10.1167/iovs.10-5797

Includes: Supplemental Content

Retina November 2010

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

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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
TAGS: achromatopsia, diagnostic imaging, optical coherence tomography, retinal cone, foveal hypoplasia
Invest. Ophthalmol. Vis. Sci.. 2010; 51(11):5952-5957. https://doi.org/10.1167/iovs.10-5680

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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

A registry and research database for retinal dystrophies – the RD5000 database

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

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

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

RPGR -associated retinal dystrophies: a longitudinal study

Natural history study of RPE65 associated autosomal recessive retinal dystrophies.

Congenital hearing loss is associated with earlier visual decline in USH2A retinitis pigmentosa

A Novel Strategy For Fast And Cost-effective Mutation Detection In Retinitis Pigmentosa Genes Using Next Generation Sequencing

Homozygosity Mapping, Haplotype Tagging an Direct Sequencing reveal New Mutations in Retinitis Pigmentosa disease genes

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

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