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Retina April 2025

PCARE -Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History

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Lorenzo Bianco; Alessio Antropoli; Amine Benadji; Raphaël Atia; Oana Palacci; Christel Condroyer; Aline Antonio; Julien Navarro; Maurizio Battaglia Parodi; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: genetics, natural history, retinal diseases, visual impairment, follow-up, eye
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):61. https://doi.org/10.1167/iovs.66.4.61

Includes: Supplemental Content

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 2024

Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) spectrum: progression kinetics and late-stage findings

Alessio Antropoli; Lorenzo Bianco; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3122.

ARVO Annual Meeting Abstract June 2024

Full-field Electroretinogram in Extensive Macular Atrophy with Pseudodrusen-like deposits (EMAP)

Lorenzo Bianco; Alessio Antropoli; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1533.

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 2022

VSX2 variants are responsible for bipolar cell dysfunction with distinct lens and chorioretinal alterations.

Vasily M. SMIRNOV; Matthieu Robert; Christel Condroyer; Aline Antonio; Jean-Michel Rozet; Jose Alain Sahel; Isabelle Perrault; Isabelle S Audo; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):487 – A0064.

ARVO Annual Meeting Abstract June 2022

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

Marco Nassisi; Giuseppe De Bartolo; Saddek Mohand-Said; Christel Condroyer; Aline Antonio; Marie-Elise Lancelot; Kinga Maria Bujakowska; Vasily M. SMIRNOV; Thomas Pugliese; John Neidhardt; Jose Alain Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):138 – A0318.

ARVO Annual Meeting Abstract June 2021

PHENOTYPE-GENOTYPE CORRELATION AND PROGRESSION MODELING APPLIED TO MUTATIONS IN RPGR -RELATED ROD-CONE DYSTROPHY.

Marco Nassisi; Giuseppe De Bartolo; Saddek Mohand-Said; Vasily M. SMIRNOV; Aline Antonio; Christel Condroyer; Jose Alain Sahel; Christina Zeitz; Isabelle Audo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3238.

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 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.

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.

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.

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.

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.

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.

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.

ARVO Annual Meeting Abstract April 2011

Prevalence And Novelty Of ABCA4 Mutations In French Patients With Stargardt Disease Or Simplex Cone-rod Dystrophy

Isabelle S. Audo; Saddek Mohand-Saïd; Maria Fransson; Aurore Germain; Aline Antonio; Veselina Moskova-Doumanova; Marie-Elise Lancelot; Shomi S. Bhattacharya; José-Alain Sahel; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2391.

Retina July 2010

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

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Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P. Hamel; José-Alain Sahel; Shomi S. Bhattacharya; Christina Zeitz
TAGS: french, mutation, retinitis pigmentosa, rhodopsin, family, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3687-3700. https://doi.org/10.1167/iovs.09-4766

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PCARE -Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) spectrum: progression kinetics and late-stage findings

Full-field Electroretinogram in Extensive Macular Atrophy with Pseudodrusen-like deposits (EMAP)

Isolated and syndromic retinal degeneration associated with POC5 variants.

VSX2 variants are responsible for bipolar cell dysfunction with distinct lens and chorioretinal alterations.

Genotype-phenotype correlation and disease modeling in RPGR -related cone and cone-rod dystrophies.

PHENOTYPE-GENOTYPE CORRELATION AND PROGRESSION MODELING APPLIED TO MUTATIONS IN RPGR -RELATED ROD-CONE DYSTROPHY.

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

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

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

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

Prevalence And Novelty Of ABCA4 Mutations In French Patients With Stargardt Disease Or Simplex Cone-rod Dystrophy

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

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