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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. doi:

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. doi:

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. doi: https://doi.org/10.1167/tvst.8.4.24

Includes: Supplemental Content

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. doi:

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. doi:

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. doi:

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. doi: 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. doi: 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. doi:

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. doi:

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. doi:

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) doi:

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. doi:

Genetics March 2015

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

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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. doi: 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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2013

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam Bauwens; Caroline Van Cauwenbergh; Sarah De Jaegere; Steve Lefever; Barbara D'haene; Filip Pattyn; Bart Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3372. doi:

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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

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

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

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

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

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