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ARVO Annual Meeting Abstract June 2023

Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen Hertens; Caroline Van Cauwenbergh; Filip Van den Broeck; Julie Sambaer; Manon Van Haute; Pieter Hertens; Elfride De Baere; Geraldine Accou; Fanny Nerinckx; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):762.

ARVO Annual Meeting Abstract June 2022

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G. Jacobson; Bart P Leroy; Caroline Van Cauwenbergh; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):453.

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. https://doi.org/10.1167/iovs.62.15.26

ARVO Annual Meeting Abstract June 2021

Safety and efficacy of sepofarsen in the second treated eye in a Ph1b/2 extension trial in Leber Congenital Amaurosis type 10 (LCA10)

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G Jacobson; Bart Leroy; Allen Ho; Caroline Van Cauwenbergh; Arun kumar Krishnan; Wilhelmina R. den Hollender; Adriana Hollestein-Havelaar; Mike Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3317.

ARVO Annual Meeting Abstract June 2020

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463.

ARVO Annual Meeting Abstract June 2020

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G Jacobson; Bart Peter Leroy; Wanda L. Pfeifer; Alina V. Dumitrescu; Alexandra V. Garafolo; Allen C. Ho; Caroline Van Cauwenbergh; Julie De Zaeytijd; Aniz Girach; Wil den Hollander; Mike Schwartz; David M. Rodman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):866.

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

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Artur V Cideciyan; Samuel G Jacobson; Arlene V Drack; Allen C Ho; Alexandra Garafalo; Alejandro J Roman; Mike Schwartz; Patricia Biasutto; Wilma de Wit; Michael E Cheetham; Peter S Adamson; David Rodman; Julie De Zaeytijd; Caroline Van Cauwenbergh; Bart P Leroy; Stephen R Russell

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1834.

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.

ARVO Annual Meeting Abstract July 2019

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Marta del Pozo Valero; Inmaculada Martin Merida; Belen Jimenez Rolando; Ana Arteche; Almudena Avila Fernandez; Fiona Blanco Kelly; Rosa Riveiro Alvarez; Caroline Van Cauwenbergh; Elfride De Baere; Carlo Rivolta; Blanca Garcia Sandoval; Marta Corton; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4926.

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 July 2018

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; caroline Van Cauwenbergh; Toon Rosseel; Sarah De Jaegere; Thalia Van Laethem; Irina Balikova; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5408.

ARVO Annual Meeting Abstract July 2018

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Susanne Kohl; Anja K. Mayer; caroline Van Cauwenbergh; Christine Rother; Britta Baumann; Peggy Reuter; Elfride De Baere; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6044.

ARVO Annual Meeting Abstract June 2017

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens; Riccardo Sangermano; Timothy Cherry; Van Cauwenbergh Caroline; José Luis Gómez-Skarmeta; Nicole Weisschuh; Susanne Kohl; Bart Peter Leroy; Frans P Cremers; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):580.

ARVO Annual Meeting Abstract September 2016

Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms

Kristof Van Schil; Sarah Naessens; Stijn Van de Sompele; Miriam Bauwens; Hannah Verdin; Caroline Van Cauwenbergh; Anja Kathrin Mayer; Susanne Kohl; Bart Peter Leroy; Elfride De Baere

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

ARVO Annual Meeting Abstract June 2015

SF3B2 , a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh; Kris Vleminckx; Frauke Coppieters; Marcus Karlstetter; Thomas Langmann; Gael Manes; Christian P Hamel; Bart Peter Leroy; Elfride De Baere; adRP Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2873.

Genetics March 2015

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

PDF

Basamat AlMoallem; Miriam Bauwens; Sophie Walraedt; Patricia Delbeke; Julie De Zaeytijd; Philippe Kestelyn; Françoise Meire; Sandra Janssens; Caroline van Cauwenbergh; Hannah Verdin; Sally Hooghe; Prasoon Kumar Thakur; Frauke Coppieters; Kim De Leeneer; Koenraad Devriendt; Bart P. Leroy; Elfride De Baere
TAGS: cohort studies, mutation, pathogenesis, pathologic nystagmus, screening, gene rearrangement, x-linked inheritance, massively-parallel genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):1701-1710. https://doi.org/10.1167/iovs.14-15938

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Regulatory mutations in the 5’UTR of NMNAT1 , encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters; Annelot Baert; Caroline Van Cauwenbergh; Miriam Bauwens; Sarah De Jaegere; Thomy de Ravel; Françoise Meire; Bart Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1313.

ARVO Annual Meeting Abstract June 2013

Exome Sequencing Identifies a Novel RP1 Mutation in a Belgian Family with Autosomal Dominant Retinitis Pigmentosa

Caroline Van Cauwenbergh; Frauke Coppieters; Sarah De Jaegere; Julie De Zaeytijd; Bart Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3355.

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Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Safety and efficacy of sepofarsen in the second treated eye in a Ph1b/2 extension trial in Leber Congenital Amaurosis type 10 (LCA10)

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

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

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

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

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

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

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Copy number variations in CNGB3 -linked autosomal recessive achromatopsia

Hidden genetic variation in Stargardt disease: novel copy number variations, cis -regulatory and deep-intronic splice variants within the ABCA4 locus

Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms

SF3B2 , a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Regulatory mutations in the 5’UTR of NMNAT1 , encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Exome Sequencing Identifies a Novel RP1 Mutation in a Belgian Family with Autosomal Dominant Retinitis Pigmentosa

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