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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

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 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

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 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

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 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 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

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:

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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

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

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

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

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)

A missense variant in CACNA1F causes variable phenotype in female carriers and hemizygous males of three unrelated Jewish families of Russian origin

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

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

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.

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