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Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

RLBP1 gene replacement studies identify two CRALBP isoforms that are differentially expressed in murine retina and human iPSC-derived retinal models

Vasiliki Kalatzis; Krishna Damodar; Gregor Dubois; Laurent Guillou; Daria Mamaeva; Nejla Erkilic; Carla Sanjurjo-Soriano; Hassan Boukhaddaoui; Béatrice Bocquet; Isabelle Meunier; Philippe Brabet

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6086.

ARVO Annual Meeting Abstract June 2024

Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

Christina Eckmann-Hansen; Toke Bek; Birgit Sander; Isabelle Meunier; Béatrice Bocquet; Xavier Zanlonghi; Guy Lenaers; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):70.

ARVO Annual Meeting Abstract June 2023

CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa

Vasiliki Kalatzis; Beatrice Bocquet; Caroline Borday; Nejla Erkilic; Daria Mamaeva; Carmen Ayuso; José M. Millán; Carlo Rivolta; Isabelle Meunier; Muriel Perron

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2800.

ARVO Annual Meeting Abstract June 2023

CPH-RP gene mutation provokes retinal pigment epithelium ciliopathy and photoreceptor anomalies

Daria Mamaeva; Nejla Erkilic; Beatrice Bocquet; Carla Jimenez-Medina; Hassan Boukhaddaoui; Muriel Perron; Isabelle Meunier; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3200.

ARVO Annual Meeting Abstract June 2022

Molecular analyses of two novel mutations in Rhodopsin causing Congenital Stationary Night Blindness

Valeria Marigo; Andrea Bighinati; Gaël Manes; Béatrice Bocquet; Angelo Nicola Felline; Francesca Fanelli

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):506 – A0083.

ARVO Annual Meeting Abstract June 2020

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume OLIVIER; Beatrice BOCQUET; Carlo Rivolta; Ervann Andreo; Agnes Muller; Christian Hamel; Alice MASUREL; Catherine P Creuzot Garcher; Laurence FAIVRE; Isabelle Anne Meunier; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2401.

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811.

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

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases.

Isabelle Anne Meunier; Beatrice BOCQUET; Catherine Blanchet; Sabine defoort; Agathe Roubertie; Marjorlaine Willems; david genevieve; Patricia Blanchet; Vasiliki Kalatzis; camille lemattre

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3970.

ARVO Annual Meeting Abstract July 2019

Phenotype variations of retinal dystrophies caused by mutations in the PDE6β gene (MIM#613801)

Le Meur Guylene; Pierre Lebranchu; Mathilde Giraud; Fanny Billaud; Beatrice BOCQUET; Marie-Noelle Delyfer; Didier Lacombe; Stéphane Bézieau; Isabelle Anne Meunier; Michel Weber

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4496.

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 July 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322.

ARVO Annual Meeting Abstract July 2018

Clinical data and natural history of retinitis punctata albescent with RLBP1 mutations for the purpose of gene therapy.

Isabelle Meunier; Hicham El Alami; Beatrice Bocquet

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2334.

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Gael Manes; Willy Joly; Thomas Guignard; Béatrice Bocquet; Patrick Carroll; David Geneviève; Bernard Puech; Christian P Hamel; Isabelle Meunier

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4510.

ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Gael Manes; Tremeur Guillaumie; Isabelle S Audo; Christina Zeitz; Aurore Devos; Béatrice Bocquet; Corinne Baudoin; Isabelle Meunier; Claire-Marie Dhaenens; Christian P Hamel; adRP research team (Paris XV/XX)

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1264.

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659.

ARVO Annual Meeting Abstract April 2011

Identification Of A New Locus In Autosomal Dominant Retinitis Pigmentosa And Strategy For Molecular Diagnosis

Christian P. Hamel; Delphine COUSTES-CHAZALETTE; Béatrice BOCQUET; Virginie DELAERE; Aurore DEVOS; Isabelle MEUNIER; Maxime HEBRARD; Claire-Marie DHAENENS; Gaël MANES; adRP French research team

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):74.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

RLBP1 gene replacement studies identify two CRALBP isoforms that are differentially expressed in murine retina and human iPSC-derived retinal models

Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa

CPH-RP gene mutation provokes retinal pigment epithelium ciliopathy and photoreceptor anomalies

Molecular analyses of two novel mutations in Rhodopsin causing Congenital Stationary Night Blindness

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

CPH1, a new gene for Dominant Optic Atrophy

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases.

Phenotype variations of retinal dystrophies caused by mutations in the PDE6β gene (MIM#613801)

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

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Clinical data and natural history of retinitis punctata albescent with RLBP1 mutations for the purpose of gene therapy.

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Identification Of A New Locus In Autosomal Dominant Retinitis Pigmentosa And Strategy For Molecular Diagnosis

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