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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:

Genetics April 2022

Retinal Phenotype of Patients with CLRN1 -Associated Usher 3A Syndrome in French Light4Deaf Cohort

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Vasily M. Smirnov; Marco Nassisi; Saddek Mohand-Saïd; Crystel Bonnet; Anne Aubois; Céline Devisme; Thilissa Dib; Christina Zeitz; Natalie Loundon; Sandrine Marlin; Christine Petit; Bahram Bodaghi; José-Alain Sahel; Isabelle Audo
TAGS: cohort studies, french, phenotype, syndrome
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):25. doi: https://doi.org/10.1167/iovs.63.4.25

Includes: Supplemental Content

Retina March 2022

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

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David G. Birch; Lassana Samarakoon; Michele Melia; Jacque L. Duncan; Allison R. Ayala; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Alessandro Iannaccone; Mark E. Pennesi; Katarina Stingl; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: genes, retinal degeneration, rod photoreceptors, visual fields, illness length
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):17. doi: https://doi.org/10.1167/iovs.63.3.17

ARVO Annual Meeting Abstract June 2021

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

Alessandro Iannaccone; Carmen C. Brewer; Peiyao Cheng; Jacque L Duncan; Maureen G Maguire; Isabelle Audo; Allison Ayala; Paul S Bernstein; Gavin M. bidelman; Janet K Cheetham; Richard L. Doty; Todd Durham; Robert B Hufnagel; Mark H. Myers; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1537. doi:

ARVO Annual Meeting Abstract June 2021

Optic atrophy and inner retinal thinning in CACNA1F -related congenital stationary night blindness

Kate E Leahy; Tom Wright; Monika K Grudzinska Pechhacker; Isabelle Audo; Anupreet Tumber; Erika Tavares; Heather MacDonald; Jeff Locke; Cynthia VandenHoven; Christina Zeitz; Elise Heon; J Raymond Buncic; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1522. doi:

ARVO Annual Meeting Abstract June 2021

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Christine Kay; Nicola Williamson; Helena Bradley; Melissa Barclay; Joel Sims; Rob Arbuckle; Claudio Spera; Christel Naujoks; Nuzhat Afroz; M Dominik Fischer; Isabelle Audo; Todd Durham; Francesco Patalano; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3589. doi:

ARVO Annual Meeting Abstract June 2021

Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France

Isabelle Audo; Nicola Williamson; Helena Bradley; Melissa Barclay; Joel Sims; Rob Arbuckle; Francesco Patalano; Claudio Spera; Christel Naujoks; Nuzhat Afroz; M Dominik Fischer; Todd Durham; Judit Banhazi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3585. doi:

ARVO Annual Meeting Abstract June 2021

Patient-reported visual functioning in persons with bi-allelic USH2A variants

Elise Heon; B. Michele Melia; Laura E Bocchino; Jacque L Duncan; Allison Ayala; Chris Bradley; Isabelle Audo; Janet K Cheetham; Gislin Dagnelie; Todd Durham; Carel Hoyng; Nieraj Jain; Thiran Jayasundera; Mark E Pennesi; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3541. doi:

ARVO Annual Meeting Abstract June 2021

Correlations between progression markers in rod-cone dystrophy due to mutations in RHO, PDE6A, or PDE6B .

Daniel C Chung; Pierre-Axel VINOT; Myriam Marussig; Léa Thiébault; Berthe Pom; Camille Andrieu; Christina Zeitz; Thierry D Leveillard; Stephane Boissel; Saddek Mohand-Said; Isabelle Audo; Jose-Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3539. doi:

ARVO Annual Meeting Abstract June 2021

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Emily Liu; Joshua Boyer; Rachel M. Huckfeldt; Elise Heon; Paul F Kenna; Isabelle Audo; Ruifang Sui; Elias I Traboulsi; Paul S Bernstein; Tim Stout; Kathy Reape; Daniel C Chung

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3506. doi:

ARVO Annual Meeting Abstract June 2021

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

David G Birch; Lassana Samarakoon; Laura E Bocchino; B. Michele Melia; Jacque L Duncan; Allison Ayala; Isabelle Audo; Janet K Cheetham; Todd Durham; Alessandro Iannaccone; Mark E Pennesi; Katarina Stingl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3241. 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)

Retinal Phenotype of Patients with CLRN1 -Associated Usher 3A Syndrome in French Light4Deaf Cohort

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

Auditory and olfactory findings from the Rate of Progression of USH2A -related Retinal Degeneration (RUSH2A) study

Optic atrophy and inner retinal thinning in CACNA1F -related congenital stationary night blindness

Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Qualitative exploration of patient and caregiver experiences of visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life associated with Retinitis Pigmentosa and Leber Congenital Amaurosis in Germany and France

Patient-reported visual functioning in persons with bi-allelic USH2A variants

Correlations between progression markers in rod-cone dystrophy due to mutations in RHO, PDE6A, or PDE6B .

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Dark-adapted visual fields (DAVF) in patients with two disease-causing variants in USH2A

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