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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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2022

Development and validation of a mobility test for Inherited Retinal Disease in real and virtual conditions - preliminary results.

Colas Nils Authié; Mylène Poujade; Alireza Talebi; Alexis Defer; Ariel Zenouda; Cecilia Coen; Yihan Zhang; Jose Alain Sahel; Saddek Mohand-Said; Philippe Chaumet-Riffaud; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):715 – F0443. doi:

ARVO Annual Meeting Abstract June 2022

Optogenetics in the clinic: safety and efficacy updates on the phase 1/2 clinical trial PIONEER

Jose Alain Sahel; Isabelle S Audo; Elise Boulanger-Scemama; Chloé Pagot; Angelo Arleo; Joseph N Martel; Simona Degli Esposti; Alexandre Delaux; Jean-Baptiste de Saint Aubert; Caroline de Montleau; Emmanuel Gutman; Jens Duebel; Serge Picaud; Deniz Dalkara; Magali Taiel; Botond Roska

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1106. doi:

ARVO Annual Meeting Abstract June 2022

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Nichols Kay; Isabelle S Audo; Helena Bradley; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Daniel Viriato; M Dominik Fischer; Jane Green; Todd Durham; Nicola Williamson; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1711 – F0029. doi:

ARVO Annual Meeting Abstract June 2022

Toward a better understanding of ITM2B pathogenicity in a specific retinal dystrophy, and its potential role in mitochondria

Tasnim BEN YACOUB; Camille Letellier; Juliette Wohlschlegel; Christelle Michiels; Olivier Goureau; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2444 – F0388. doi:

ARVO Annual Meeting Abstract June 2022

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Isabelle S Audo; Nicola Williamson; Melissa Barclay; Joel Sims; Kieran Boparai; Francesco Patalano; Christel Naujoks; Claudio Spera; Judit Banhazi; Paul O’Brien; Christine Kay; Jane Green; Todd Durham; Helena Bradley; M Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2663. doi:

ARVO Annual Meeting Abstract June 2022

Retrospective natural history of retinitis pigmentosa due to RHO , PDE6A, or PDE6B mutations: the PHENOROD1 study

Alice Le Meur; Daniel C Chung; Léa Thiebault; Pierre-Axel Vinot; Berthe Pom; Thierry D Leveillard; Saddek Mohand-Said; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4497 – F0284. doi:

ARVO Annual Meeting Abstract June 2022

Prospective natural history of retinitis pigmentosa due to RHO , PDE6A , or PDE6B mutations: interim analysis of the PHENOROD2 study

Anne Celle; Alice Le Meur; Daniel C Chung; Saddek Mohand-Said; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4294. doi:

ARVO Annual Meeting Abstract June 2022

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Bart Peter Leroy; Katarina Stingl; Isabelle S Audo; Camiel J F Boon; Fernanda Belga O Porto; Michel Michaelides; Helene Dollfus; L. Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert K Koenekoop; Elise Heon; Stephen R Russell; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4536 – F0323. 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 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 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:

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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.

Development and validation of a mobility test for Inherited Retinal Disease in real and virtual conditions - preliminary results.

Optogenetics in the clinic: safety and efficacy updates on the phase 1/2 clinical trial PIONEER

Generation of qualitative evidence to support the content validity of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis

Toward a better understanding of ITM2B pathogenicity in a specific retinal dystrophy, and its potential role in mitochondria

Psychometric validation of patient-reported outcome (PRO) and observer-reported outcome (ObsRO) measures in Retinitis Pigmentosa and Leber Congenital Amaurosis

Retrospective natural history of retinitis pigmentosa due to RHO , PDE6A, or PDE6B mutations: the PHENOROD1 study

Prospective natural history of retinitis pigmentosa due to RHO , PDE6A , or PDE6B mutations: interim analysis of the PHENOROD2 study

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

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

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

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

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

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