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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: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Biallelic loss-of-function alleles of the SCLT1 gene cause a variable phenotypic spectrum of retinal ciliopathies

Kristof Van Schil; Rachel L. Taylor; Giulia Ascari; Brecht Guillemyn; Laurens Lambrechts; Fanny Depasse; Bart P Leroy; Graeme Black; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2810. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Beatrice BOCQUET; Claire-Marie Dhaenens; Isabelle Perrault; Jean-Michel Rozet; Josseline Kaplan; Anne Francoise Roux; Dalil Hamroun; Gabriel Gardes; Gael Manes; Elfride De Baere; Bart P Leroy; Vasiliki Kalatzis; Isabelle Anne Meunier

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2948. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Sarah Naessens; Rob W J Collin; Frauke Coppieters; Miriam Bauwens; Lonneke Duijkers; Irina Balikova; Bart P Leroy; Elfride De Baere; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4950. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

Giulia Ascari; Frank Peelman; Nina Lambrechts; Thalia Van Laethem; Toon Rosseel; Pietro Farinelli; David Creytens; Irina Balikova; Jan Gerris; Claus Bachert; Carlo Rivolta; Sophie Walraedt; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4951. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Miriam Bauwens; Alex Garanto; Riccardo Sangermano; Sarah Naessens; Nicole Weisschuh; Julie De Zaeytijd; Mubeen Khan; Françoise Sadler; Susanne Kohl; Bernd Wissinger; timothy cherry; Rob W J Collin; Frans P Cremers; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):377. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Whole exome sequencing-based copy number variant detection in inherited retinal disease

Frauke Coppieters; Stijn Van de Sompele; Kristof Van Schil; Thalia Van Laethem; Rani Six; Sarah De Jaegere; Francoise Meire; Meindert De Vries; Irina Balikova; Julie De Zaeytijd; Bart P Leroy; Toon Rosseel; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):385. doi: https://doi.org/

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: phenotype, genes, heterozygote, 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

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees.

Sarah Naessens; Delfien Syx; Frank Peelman; Roosmarijn Vandenbroucke; Sarah De Jaegere; Frédéric Smeets; Julie De Zaeytijd; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5403. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes

Kristof Van Schil; Sarah Naessens; Stijn Van de Sompele; Marjolein Carron; Laurens Lambrechts; Núria Gruartmoner Roura; Katharina Dannhausen; Frauke Coppieters; Marcus Karlstetter; Thomas Langmann; Reza Maroofian; Andrew Webster; Michel Michaelides; Bart P Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5404. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

Ariane de Lassus; Bart Peter Leroy; Veronika Vaclavik; Daniel F Schorderet; Francis L Munier; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2762. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract June 2017

First missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Frauke Coppieters; Giulia Ascari; Stijn Van De Sompele; Lara Derycke; Holtappels Gabriële; Olga Krysko; Jo Van Dorpe; David Creytens; Irina Balikova; Jan Gerris; Claus Bachert; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):583. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

Mervyn George Thomas; Viral Sheth; Gail Maconachie; Sarim Ather; Rebecca Jane McLean; Frank A Proudlock; Susanne Kohl; Bart Peter Leroy; Anthony T Moore; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):861. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene.

Basamat Almoallem; Kristof Van Schil; Laila Jeddawi; Bart Peter Leroy; Frauke Coppieters; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1242. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Anneke I Den Hollander; Nicole T.M. Saksens; Mark P Krebs; Elfride De Baere; Frans P Cremers; Camiel J F Boon; Ronald Roepman; Bart Peter Leroy; Neal S Peachey; Carel C B Hoyng; Patsy M Nishina

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi: https://doi.org/

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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

Biallelic loss-of-function alleles of the SCLT1 gene cause a variable phenotypic spectrum of retinal ciliopathies

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

ABCA4 -associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis -regulatory, structural and recurrent hypomorphic variants

Whole exome sequencing-based copy number variant detection in inherited retinal disease

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

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees.

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes

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

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

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

First missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene.

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

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