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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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: immunohistochemistry, retinal cone, dendrites, rod photoreceptors, synapses, synaptic transmission, mice, retina, biopharmaceutics classification system, retinal bipolar cells
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

How multimodal retinal imaging can help with Next Generation Sequencing interpretation: the example of cone and cone-rod dystrophies

Elise Boulanger-Semama; Said El Shamieh; Saddek Mohand-Said; Vanessa Démontant; Christel Condroyer; Aline Antonio; Christelle Michiels; Fiona Boyard; Jose Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3169. doi: https://doi.org/

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: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract September 2016

MERTK mutations account for 2% of cases with inherited retinal dystrophy in a large French cohort

Isabelle S Audo; Elise Boulanger-Semama; Saddek Mohand-Said; Vanessa Démontant; Christel Condroyer; Aline Antonio; Fiona Boyard; Said El Shamieh; Jose Sahel; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):660. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

A comprehensive molecular analysis of patients with the diagnosis of choroideremia

Christina Zeitz; Barbara Kloeckener-Gruissem; Marie-Elise Lancelot; Aurore Germain; Aline Antonio; Fiona Boyard; Mohaind-Said Saddek; Jose Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):661. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Gene Therapy for CSNB associated with GRM6 gene defects

Miguel Miranda de Sousa Dias; Thomas Pugliese; Marion Neuille; Elise Orhan; Christelle Michiels; Melissa Desrosiers; Jose Sahel; Deniz Dalkara; Isabelle S Audo; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1182. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Ajoy Vincent; Erika Tavares; Isabelle S Audo; jason maynes; Shuning Li; Christelle Michiels; Anupreet Tumber; Heather Macdonald; Chelsea Roadhouse; Christina Zeitz; Elise Heon

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

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. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2015

Genotypic and Phenotypic Characterization of the P23H Line 1 Rat Model

Elise Orhan; Deniz Dalkara; Christophe Lechauve; Serge A Picaud; Thierry D Leveillard; Jose Alain Sahel; Muna I Naash; Matthew M LaVail; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5391. doi: https://doi.org/

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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

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

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

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

How multimodal retinal imaging can help with Next Generation Sequencing interpretation: the example of cone and cone-rod dystrophies

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

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

MERTK mutations account for 2% of cases with inherited retinal dystrophy in a large French cohort

A comprehensive molecular analysis of patients with the diagnosis of choroideremia

Gene Therapy for CSNB associated with GRM6 gene defects

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

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

Genotypic and Phenotypic Characterization of the P23H Line 1 Rat Model

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