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Visual Neuroscience March 2021

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

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Juliette Varin; Nassima Bouzidi; Miguel Miranda De Sousa Dias; Thomas Pugliese; Christelle Michiels; Camille Robert; Melissa Desrosiers; José-Alain Sahel; Isabelle Audo; Deniz Dalkara; Christina Zeitz
TAGS: biopharmaceutics classification system, dendrites, electroretinography, mice, night blindness, congenital stationary, proteins, retina
Invest. Ophthalmol. Vis. Sci.. 2021; 62(3):24. doi: https://doi.org/10.1167/iovs.62.3.24

Includes: Supplemental Content

Genetics February 2021

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

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Leonardo Colombo; Paolo E. Maltese; Marco Castori; Said El Shamieh; Christina Zeitz; Isabelle Audo; Alessandra Zulian; Carla Marinelli; Sabrina Benedetti; Alisia Costantini; Simone Bressan; Marcella Percio; Paolo Ferri; Andi Abeshi; Matteo Bertelli; Luca Rossetti
TAGS: epidemiology, molecular, genes, genetics, italian, proband, retinitis pigmentosa, usher syndrome, family, age of onset
Invest. Ophthalmol. Vis. Sci.. 2021; 62(2):13. doi: https://doi.org/10.1167/iovs.62.2.13

Includes: Supplemental Content

Retina December 2020

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

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Valentina Di Iorio; Marianthi Karali; Paolo Melillo; Francesco Testa; Raffaella Brunetti-Pierri; Francesco Musacchia; Christel Condroyer; John Neidhardt; Isabelle Audo; Christina Zeitz; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(14):36. doi: https://doi.org/10.1167/iovs.61.14.36

Includes: Supplemental Content

Genetics August 2020

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

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Matteo Di Scipio; Erika Tavares; Shriya Deshmukh; Isabelle Audo; Kit Green-Sanderson; Yuliya Zubak; Fayçal Zine-Eddine; Alexander Pearson; Anjali Vig; Chen Yu Tang; Antonio Mollica; Jonathan Karas; Anupreet Tumber; Caberry W. Yu; Gail Billingsley; Michael D. Wilson; Christina Zeitz; Elise Héon; Ajoy Vincent
TAGS: genetic pedigree, introns, phenotype, retinal dystrophies, reverse transcriptase polymerase chain reaction, rna splicing, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):36. doi: https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Retinal degeneration in CLRN1 -associated Usher type 3A syndrome.

Vasily M. SMIRNOV; Saddek Mohand-Saïd; Chrystel Bonnet; Céline Devisme; Camille Andrieu; Christina Zeitz; Sandrine Marlin; Christine Petit; Bahram Bodaghi; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3033. doi:

ARVO Annual Meeting Abstract June 2020

Natural history of retinitis pigmentosa due to RHO , PDE6A OR PDE6B mutations

Myriam Marussig; Léa Thiebault; Pierre-Axel Vinot; Berthe Pom; Camille Andrieu; Christina Zeitz; Thierry D Leveillard; Florence Allouche; Saddek Mohand-Said; Isabelle S Audo; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3035. doi:

ARVO Annual Meeting Abstract June 2020

PRESENTATION AND LONG-TERM CLINICAL COURSE OF ITM2B-RELATED RETINAL DYSTROPHY

Marco Nassisi; Juliette Wohlschlegel; Saddek Mohand-Said; Christophe Habas; Jose Alain Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3194. doi:

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. doi: https://doi.org/10.1167/iovs.19-27100

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

Isabelle S Audo; Maria Solaguren-Beascoa; Kinga Bujakowska; Cécile Méjécase; Lisa Emmengger; Saddek Mohand-Said; Thierry D Leveillard; Eric A Pierce; Helene Dollfus; Jose Alain Sahel; Shomi Bhattacharya; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):381. doi:

ARVO Annual Meeting Abstract July 2019

A CCDC51 frameshift variant as a candidate gene defect for autosomal recessive rod-cone dystrophy

Christina Zeitz; Cécile Méjécase; Saddek Mohand-Saïd; Lisa Emmengger; Audrey Schalk; Marion Neuillé; Elise Orhan; Frédéric Blond; Camille Prévot; Sandra Sandra Chantot-Bastaraud; Thierry D Leveillard; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):415. doi:

ARVO Annual Meeting Abstract July 2019

Agreement between eyes and correlation of structural and functional data in patients with Usher Syndrome-associated retinitis pigmentosa

Marco Nassisi; Saddek Mohand-Saïd; Céline Devisme; Charlène Da Silva; Crystel Bonnet; Christina Zeitz; Sandrine Marlin; Christine Petit; Bahram Bodaghi; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4510. doi:

ARVO Annual Meeting Abstract July 2018

Characterization of the effect of MERTK patient mutations on RPE cells in vitro

Solène Roux; Isabelle S Audo; Ana Fakin; Andrew Webster; Christina Zeitz; Emeline F Nandrot

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4030. doi:

ARVO Annual Meeting Abstract July 2018

Development of two gene therapy approaches for Complete Congenital Stationary Night Blindness (cCSNB)

Juliette Varin; Miguel Miranda de Sousa Dias; Thomas Pugliese; Marion Neuillé; Nassima Bouzidi; Christelle Michiels; Melissa Desrosiers; José-Alain Sahel; Isabelle S Audo; Deniz Dalkara; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4526. doi:

ARVO Annual Meeting Abstract July 2018

A missense variant in CACNA1F causes variable phenotype in female carriers and hemizygous males of three unrelated Jewish families of Russian origin

Adva Kimchi; Vardiella Meiner; Orly Elpeleg; Michal Macarov; Anat Blumenfeld; Isabelle S Audo; Christina Zeitz; Hadas Mechoulam; Eyal Banin; Dror Sharon; Claudia Yahalom

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5415. doi:

ARVO Annual Meeting Abstract June 2017

CC2D2A mutations lead to variable phenotypes in a family with retinal dystrophy

Cécile Méjécase; Saddek Mohand-Said; Camille Andrieux; Aurélie Hummel; Saïd El Shamieh; Aline Antonio; Fiona Boyard; Christel Condroyer; Christelle Michiels; Steven Blanchard; Mélanie Letexier; Jean-Paul Saraiva; Jose Alain Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):573. doi:

ARVO Annual Meeting Abstract June 2017

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

Christina Zeitz; Christelle Michiels; Marion Neuille; Christoph Friedburg; Christel Condroyer; Fiona Boyard; Aline Antonio; Markus N Preising; Vincent Meyer; Anne Boland; Jean-François Deleuze; Lilia Mesrob; Bernhard Jurklies; Birgit Lorenz; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):575. doi:

ARVO Annual Meeting Abstract June 2017

Mutation spectrum of a French cohort with autosomal recessive bestrophynopathy

Isabelle S Audo; Saddek Mohand-Said; Brigitte Ekpe; Aline Antonio; Christel Condroyer; Fiona Boyard; José Alain sahel; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1239. doi:

Visual Neuroscience March 2017

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

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Marion Neuillé; Yan Cao; Romain Caplette; Debbie Guerrero-Given; Connon Thomas; Naomi Kamasawa; José-Alain Sahel; Christian P. Hamel; Isabelle Audo; Serge Picaud; Kirill A. Martemyanov; Christina Zeitz
TAGS: mice, retinal bipolar cells, retinal cone, synapses, synaptic transmission, rod photoreceptors, retina, dendrites, biopharmaceutics classification system, immunohistochemistry
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1768-1778. doi: https://doi.org/10.1167/iovs.16-20745

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Novel mutations in SLC24A1 leading to congenital stationary night blindness (CSNB)

Marion Neuille; Sivasankar Malaichamy; Maria Vadala; Ramya Sachidanandam; Tharigopala Arokiasamy; Jose Sahel; Parveen Sen; Isabelle S Audo; Nagasamy Soumittra; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):658. doi:

ARVO Annual Meeting Abstract September 2016

Phenotype-genotype correlation in a French cohort of Enhanced S-Cone syndrome

Jean-Louis Bacquet; Christina Zeitz; Saddek Mohand-Said; Aline Antonio; Jose Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):659. doi:

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Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Retinal degeneration in CLRN1 -associated Usher type 3A syndrome.

Natural history of retinitis pigmentosa due to RHO , PDE6A OR PDE6B mutations

PRESENTATION AND LONG-TERM CLINICAL COURSE OF ITM2B-RELATED RETINAL DYSTROPHY

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

Mutations in WDR34 is a rare cause of non-syndromic autosomal recessive rod-cone dystrophy

A CCDC51 frameshift variant as a candidate gene defect for autosomal recessive rod-cone dystrophy

Agreement between eyes and correlation of structural and functional data in patients with Usher Syndrome-associated retinitis pigmentosa

Characterization of the effect of MERTK patient mutations on RPE cells in vitro

Development of two gene therapy approaches for Complete Congenital Stationary Night Blindness (cCSNB)

A missense variant in CACNA1F causes variable phenotype in female carriers and hemizygous males of three unrelated Jewish families of Russian origin

CC2D2A mutations lead to variable phenotypes in a family with retinal dystrophy

Identification of mutations in CACNA1F in patients with incomplete CSNB applying next generation sequencing approaches

Mutation spectrum of a French cohort with autosomal recessive bestrophynopathy

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

Novel mutations in SLC24A1 leading to congenital stationary night blindness (CSNB)

Phenotype-genotype correlation in a French cohort of Enhanced S-Cone syndrome

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