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Retina April 2025

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

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Alessio Antropoli; Lorenzo Bianco; Xavier Zanlonghi; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Claire-Marie Dhaenens; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: atypical, genotype, phenotype, retinal diseases, retinitis pigmentosa, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):7. https://doi.org/10.1167/iovs.66.4.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Isolated and syndromic retinal degeneration associated with POC5 variants.

Vasily M. SMIRNOV; Claire-Marie Dhaenens; Grunewald Olivier; Christel Condroyer; Aline Antonio; Jose Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4522.

ARVO Annual Meeting Abstract June 2023

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Rebekkah Hitti-Malin; Claire-Marie Dhaenens; Daan Panneman; Zelia Corradi; Anneke I. den Hollander; G Jane Farrar; Erica G.M Boonen; Christian Gilissen; Alexander Hoischen; Susanne Roosing; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3658.

ARVO Annual Meeting Abstract June 2023

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Laurie Molday; Melita Kaltak; Rocio Blanco-Garavito; Claire-Marie Dhaenens; Eric Souied; Gerard Platenburg; Jim Swildens; Robert S Molday; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4499.

ARVO Annual Meeting Abstract June 2022

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Rebekkah J Hitti-Malin; Susanne Roosing; Claire-Marie Dhaenens; Anneke I Den Hollander; G.Jane Farrar; Daan Panneman; Erica G.M Boonen; Laura de Rooij; Mariana Guimaraes Ramos; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):41.

ARVO Annual Meeting Abstract June 2022

Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4 -associated inherited retinal disease

Alfredo Dueñas Rey; Víctor López-Soriano; Zelia Corradi; Claire-Marie Dhaenens; Manon Bouckaert; Jasper Verwilt; Avril M Watson; Majlinda Lako; Eva D’haene; Karla Alejandra Ruiz Ceja; Sandro Banfi; Miriam Bauwens; Frans P Cremers; Steve Lefever; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2628.

ARVO Annual Meeting Abstract June 2022

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

Stéphanie Susanne Cornelis; Esmee Runhart; Miriam Bauwens; Zelia Corradi; Elfride De Baere; Susanne Roosing; Lonneke Haer-Wigman; Claire-Marie Dhaenens; Anneke T. Vulto-van Silfhout; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3766 – F0187.

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Zelia Corradi; Mubeen Khan; Ketan Mishra; Laura Whelan; Rebekkah Hitti-Malin; Stephanie Cornelis; Claire-Marie Dhaenens; G. Jane Farrar; Dror Sharon; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1567.

ARVO Annual Meeting Abstract June 2021

Genotype-phenotype correlations of known and novel variants in the PRPH2 gene.

Adrian Dockery; Laura Whelan; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Claire Kirk; Rebecca Cairns; James J O'Byrne; Jacqueline Turner; Claire-Marie Dhaenens; Giuliana Silvestri; David J Keegan; Paul F Kenna; Frans P.M. Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1558.

ARVO Annual Meeting Abstract June 2021

Characterisation of Stargardt disease pathogenesis associated with the frequent ABCA4 mutation c.5714+5G>A

Jana Sajovic; Andrej Meglič; Martina Jarc-Vidmar; Frans P.M. Cremers; Mubeen Khan; Zelia Corradi; Claire-Marie Dhaenens; Damjan Glavač; Aleš Maver; Marija Volk; Borut Peterlin; Marko Hawlina; Ana Fakin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2705.

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451.

ARVO Annual Meeting Abstract June 2021

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

Manar Salameh; Zelia Corradi; Mubeen Khan; Ajoy Vincent; Elise Heon; Rebekkah Hitti-Malin; Yahya AlSwaiti; Eyal Banin; Claire-Marie Dhaenens; Dror Sharon; Alaa AlTalbishi; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):6.

ARVO Annual Meeting Abstract June 2021

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Zelia Corradi; Kirk A.J. Stephenson; Julia Zhu; Stephanie Cornelis; Jacqueline Turner; James J O'Byrne; Giuliana Silvestri; David J Keegan; Paul F Kenna; Susanne Roosing; Claire-Marie Dhaenens; Frans P.M. Cremers; G. Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2.

ARVO Annual Meeting Abstract June 2020

Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland.

Laura Whelan; Adrian Dockery; Mubeen Khan; Stéphanie Cornelis; Niamh Wynne; James O'Byrne; Julia Zhu; Jacqueline Turner; Kirk Stephenson; Giuliana Silvestri; David J Keegan; Paul Kenna; Susanne Roosing; Claire Marie Dhaenens; G. Jane Farrar; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):837.

Retina December 2019

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease

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Marco Nassisi; Saddek Mohand-Saïd; Camille Andrieu; Aline Antonio; Christel Condroyer; Cécile Méjécase; Claire-Marie Dhaenens; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: autofluorescence, stargardt's disease, electroretinography, body tissue
Invest. Ophthalmol. Vis. Sci.. 2019; 60(15):4951-4957. https://doi.org/10.1167/iovs.19-27100

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813.

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.

ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930.

ARVO Annual Meeting Abstract June 2017

Carbonic anhydrase inhibitors for the mangement of cystic macular lesions in X-linked retinoschisis

Ismaël Chehaibou; Raphaelle Ores; Claire Marie Dhaenens; Camille Andrieux; Michel Paques; Saddek Mohand-Said; José Alain sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):614.

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Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

Isolated and syndromic retinal degeneration associated with POC5 variants.

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Stargardt disease-associated in-frame exon 17 skipping in ABCA4 results in partial ABCA4 function

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4 -associated inherited retinal disease

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Genotype-phenotype correlations of known and novel variants in the PRPH2 gene.

Characterisation of Stargardt disease pathogenesis associated with the frequent ABCA4 mutation c.5714+5G>A

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland.

Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland.

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Carbonic anhydrase inhibitors for the mangement of cystic macular lesions in X-linked retinoschisis

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