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ARVO Annual Meeting Abstract June 2020

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Kyle Kim; Eun-Jin Lee; Wei-Chieh Chiang; Heike Kroeger; Chloe Xiaoke Bi; Daniel L Chao; Rebecca Mastey; Stephen Tsang; Leon Chea; Britta Baumann; Isabelle S Audo; Susanne Kohl; Anthony Moore; Luke Wiseman; Joseph Carroll; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2393. 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:

ARVO Annual Meeting Abstract June 2020

Patient and caregiver experiences of functional vision impairment and health-related quality of life limitations associated with hereditary retinitis pigmentosa

Christine Kay; Judit Banhazi; Nicola Williamson; Rob Arbuckle; Chloe Tolley; Claudio Spera; Jane Green; M Dominik Fischer; Isabelle S Audo; Francesco Patalano; Daniel Viriato

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1562. 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:

ARVO Annual Meeting Abstract June 2020

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

Jacque L Duncan; Wendi Liang; Isabelle S Audo; David G Birch; Joseph Carroll; Janet K. Cheetham; Laura R Erker; Frederick L Ferris; Elise Heon; Robert Hufnagel; Alessandro Iannaccone; Glenn J Jaffe; Christine N Kay; Maureen Maguire; Michel Michaelides; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3364. doi:

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

Comparison of two color vision tests in patients with Usher syndrome

Mathias Chapon; Isabelle S Audo; Auréline Costa; Marco Nassisi; Saddek Mohand Saïd; Jose-Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4491. doi:

ARVO Annual Meeting Abstract July 2019

First data of a prospective study comparing the impact of Retinitis Pigmentosa linked to Usher Syndrome 1B caused by MYO7A mutations and non-syndromic on daily living one year apart

Karine Becker; Emmanuel Gutman; Caroline Segaut-Prevost; Patrick Benoit; Caroline Cohen; Isabelle S Audo; Saddek Mohand-Said; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4959. 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

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

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

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

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:

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Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

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

Patient and caregiver experiences of functional vision impairment and health-related quality of life limitations associated with hereditary retinitis pigmentosa

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

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

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

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

Comparison of two color vision tests in patients with Usher syndrome

First data of a prospective study comparing the impact of Retinitis Pigmentosa linked to Usher Syndrome 1B caused by MYO7A mutations and non-syndromic on daily living one year apart

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

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

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)

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

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

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