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ARVO Annual Meeting Abstract July 2018

Natural History of Retinal Function and Structure in a French Cohort of Patients with Usher Syndrome

Saddek Mohand-Said; Pierre-Yves Boelle; Naziha Nassibi; Crystel Bonnet; Caroline Segaut-Prevost; Florence Joly; Isabelle S Audo; Jose A. Sahel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1566. doi:

ARVO Annual Meeting Abstract July 2018

Test-Retest Variability of Functional and Structural Parameters in patients with Usher Syndrome Type-1B (USH1B)

Maria A Parker; Andreas Lauer; Tim Stout; Mark E Pennesi; Paul Yang; David J Wilson; Dongseok Choi; Laura R Erker; Brandon J Lujan; Ou Tan; Pierre-Olivier Barale; Caroline Cohen; Saddek Mohand-Said; Isabelle S Audo; Jose A. Sahel; Richard G Weleber

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3896. doi:

ARVO Annual Meeting Abstract July 2018

First data of a prospective, comparative study evaluating visual function and quality of life in patients with Usher Syndrome 1B caused by MYO7A mutations and non-syndromic Retinitis Pigmentosa patients

Karine Becker; Emilie Bochin; Guillaume Houot; Emmanuel Gutman; Caroline Ségaut-Prevost; Florence Joly; Isabelle S Audo; Saddek Mohand-Said; Jose A. Sahel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3895. 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

One Year Results of a Phase I/IIa Study of SAR422459 in Patients with Stargardt Macular Degeneration (SMD)

David J Wilson; Jose Alain Sahel; Richard G Weleber; Laura R Erker; Andreas K Lauer; Tim Stout; Isabelle S Audo; Saddek Mohand-Said; Pierre-Olivier Barale; Laurence Titeux; Ronald BUGGAGE

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3385. 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

Carbonic anhydrase inhibitors for the mangement of cystic macular lesions in X-linked retinoschisis

Ismaël Chehaibou; Raphaelle Ores; Claire Marie Dhaenens; Camille Andrieux; Michel Paques; Saddek Mohand-Said; José Alain sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):614. 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:

ARVO Annual Meeting Abstract June 2017

Safety Profile of the Surgical Procedure for the Administration of Ocular Gene Therapies

Ronald BUGGAGE; Pierre-Olivier Barale; Sarah Ayello-Scheer; Andreas K Lauer; Tim Stout; Isabelle S Audo; Saddek Mohand-Said; Jose Alain Sahel; Paul Yang; Mark E Pennesi; Richard G Weleber; Laurence Titeux; Amel Lahmar; Preethi A Sundaram

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1491. doi:

ARVO Annual Meeting Abstract June 2017

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

Marko Hawlina; Ana Fakin; Crystel Bonnet; Anne Kurtenbach; Saddek Mohand-Said; Ditta Zobor; Martina Jarc-Vidmar; Katarina Stingl; Francesco Testa; Francesca Simonelli; José Alain sahel; Isabelle S Audo; Eberhart Zrenner; Christine Petit

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3227. doi:

ARVO Annual Meeting Abstract June 2017

Natural progression of scotopic and photopic macular function loss in patients with Stargardt disease: The SMART Study.

Millena Bittencourt; Mohamed A Ibrahim; Xiangrong Kong; Rupert Wolfgang Strauss; Ann-Margret Ervin; Alexander Ho; Muneeswar Gupta Nittala; Isabelle S Audo; David G Birch; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3281. doi:

ARVO Annual Meeting Abstract June 2017

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Kaoru Fujinami; Rupert Wolfgang Strauss; John Chiang; Isabelle S Audo; Paul S Bernstein; David G Birch; Samuel G Jacobson; Brian C Mansfield; Meghan J Marino; Jose Alain Sahel; Saddek Mohand-Said; Janet S Sunness; Elias I Traboulsi; Eberhart Zrenner; Michel Michaelides; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4638. doi:

ARVO Annual Meeting Abstract June 2017

Natural History of Retinal function and structure in a French cohort of patients with Usher Syndrome Type 1 due to MYO7A Mutations.

Saddek Mohand-Said; Line Azoulay-Sebban; Isabelle S Audo; Céline Chaumette; Céline Devisme; Karine Becker; Emmanuel Gutman; Caroline Segaut-Prevost; Ronald BUGGAGE; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4679. doi:

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:

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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Natural History of Retinal Function and Structure in a French Cohort of Patients with Usher Syndrome

Test-Retest Variability of Functional and Structural Parameters in patients with Usher Syndrome Type-1B (USH1B)

First data of a prospective, comparative study evaluating visual function and quality of life in patients with Usher Syndrome 1B caused by MYO7A mutations and non-syndromic Retinitis Pigmentosa patients

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

One Year Results of a Phase I/IIa Study of SAR422459 in Patients with Stargardt Macular Degeneration (SMD)

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

Carbonic anhydrase inhibitors for the mangement of cystic macular lesions in X-linked retinoschisis

Mutation spectrum of a French cohort with autosomal recessive bestrophynopathy

Safety Profile of the Surgical Procedure for the Administration of Ocular Gene Therapies

Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1

Natural progression of scotopic and photopic macular function loss in patients with Stargardt disease: The SMART Study.

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Natural History of Retinal function and structure in a French cohort of patients with Usher Syndrome Type 1 due to MYO7A Mutations.

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

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