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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

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:

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:

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:

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:

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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

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

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

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

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

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

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