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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

Review January 2022

Vision Restoration by Optogenetic Therapy and Developments Toward Sonogenetic Therapy

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Matthieu Provansal; Katia Marazova; José Alain Sahel; Serge Picaud
TAGS: optogenetics, vision
Trans. Vis. Sci. Tech.. 2022; 11(1):18. doi: https://doi.org/10.1167/tvst.11.1.18

Articles December 2021

A New Method for Visualizing Drusen and Their Progression in Flood-Illumination Adaptive Optics Ophthalmoscopy

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Ethan A. Rossi; Nathaniel Norberg; Chiara Eandi; Celine Chaumette; Saloni Kapoor; Laura Le; Valerie C. Snyder; Joseph N. Martel; Josselin Gautier; Kiyoko Gocho; Kunal K. Dansingani; Jay Chhablani; Angelo Arleo; Sarah Mrejen; José-Alain Sahel; Kate Grieve; Michel Paques
TAGS: diagnostic imaging, drusen, gaze, light, lighting, optics, color, ophthalmoscopy, floods
Trans. Vis. Sci. Tech.. 2021; 10(14):19. doi: https://doi.org/10.1167/tvst.10.14.19

Includes: Multimedia, Supplemental Content

ARVO Imaging in the Eye Conference Abstract August 2021

Application of laser Doppler holography in the anterior segment to image blood flow and assess the corneal and lens transparency

Leo Puyo; Clementine David; Rana Saad; Sami Saad; Josselin Gautier; Vincent Borderie; Jose-Alain Sahel; Michel Paques; Michael Atlan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(11):7. doi:

ARVO Annual Meeting Abstract June 2021

Retinal degeneration in abetalipoproteinemia

Vasily M. SMIRNOV; Fanny Mochel; Saddek Mohand-Said; Camille Andrieu; Christel Condroyer; Jose Alain Sahel; Christina Zeitz; Isabelle Audo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3216. doi:

ARVO Annual Meeting Abstract June 2021

Predictive model for incomplete and complete retinal pigment epithelium and outer retinal atrophy in non-exudative age related macular degeneration

Sohani Amarasekera; Anindya Samanta; Mahima Jhingan; Supriya Arora; Sumit R Singh; Davide Tucci; Joseph N Martel; Jose Alain Sahel; Thomas R Friberg; Alexander J Anetakis; Denise Gallagher; Andrew W Eller; Carlo Cagini; Marco Lupidi; Jay Chhablani

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):308. doi:

ARVO Annual Meeting Abstract June 2021

A 1-Month Toxicology and Biodistribution NHP Pilot Study Evaluating a Single Subretinal Bilateral Administration of SPVN06 - A Novel AAV-Based Gene Therapy for the Treatment of Rod-Cone Dystrophies Agnostic of the Causative Mutation

Melanie MARIE; Myriam Marussig; Pierre-Axel VINOT; Thomas VIHTELIC; Ryan F. Boyd; Lauren KNUPP; Jennifer LAMOUREUX; Thierry D Leveillard; Jose Alain Sahel; Florence LORGET

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):194. doi:

ARVO Annual Meeting Abstract June 2021

3D visualization of human retina cells’ anatomy using expansion microscopy

Leyna Boucherit; Anna Verschueren; Marie Darche; Serge A Picaud; Jose Alain Sahel; Michel Paques

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3025. doi:

ARVO Annual Meeting Abstract June 2021

Automated choroid layer segmentation based on wide-field SS-OCT images using deep residual encoder-decoder architecture

Kiran Kumar Vupparaboina; Amrish Selvam; Shan Suthaharan; Mohammed Nasar Ibrahim; Soumya Jana; Jose-Alain Sahel; Kunal K Dansingani; Jay Chhablani

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2162. doi:

ARVO Annual Meeting Abstract June 2021

An automated choroid segmentation approach using transfer learning and encoder-decoder networks

Shan Suthaharan; Gunjan Chhablani; Kiran Kumar Vupparaboina; Jose-Alain Sahel; Kunal K. Dansingani; Jay Chhablani

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2158. doi:

ARVO Annual Meeting Abstract June 2021

SPVN06, a Novel Mutation-Independent AAV-based Gene Therapy, Protects Cone Degeneration in a Pig Model of Retinitis Pigmentosa

Jennifer Noel; archana jalligampala; Myriam Marussig; Pierre-Axel VINOT; Melanie MARIE; Melanie Butler; Florence LORGET; Stephane Boissel; Thierry D Leveillard; Jose Alain Sahel; Maureen A McCall

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1189. doi:

ARVO Annual Meeting Abstract June 2021

AAV-mediated Gene Therapy Restores Retinal Function in CRISPR-based Mouse Models of PRPF31 Retinitis Pigmentosa

Zhouhuan Xi; Abhishek Vats; Jose Alain Sahel; Yuanyuan Chen; Leah Byrne

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2257. doi:

ARVO Annual Meeting Abstract June 2021

A mouse model with specific inactivation of the thioredoxin-like protein encoded by the nucleoredoxin-like1 reveals its role in the prevention of secondary cone death in retinitis pigmentosa

Emmanuelle Clerin; Emanuele Procopio; Stephanie M Hauck; Jose-Alain Sahel; Erika Tatiana Camacho; Thierry D Leveillard

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2256. doi:

ARVO Annual Meeting Abstract June 2021

Evaluation of the efficacy of rAAV2/2- ND4 gene therapy for Leber hereditary optic neuropathy compared with the natural history

Patrick Yu-Wai-Man; Nancy J Newman; Valerio Carelli; Mark Moster; Catherine Vignal-Clermont; Alfredo A Sadun; Chiara La Morgia; Francesco Bandello; Lorena Castillo Campillo; Stephanie Leruez; Dean Cestari; Robert Foroozan; Rustum Karanjia; Laure Blouin; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2676. doi:

ARVO Annual Meeting Abstract June 2021

Simultaneous Perception of Prosthetic and Natural Vision in Patients with Geographic Atrophy

Daniel V Palanker; Yannick Le Mer; Ralf Hornig; Guillaume Buc; Saddek Mohand-Said; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3556. 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

A Novel Agent in Prevention of Acute Radiation Toxicity in the Mouse Retina

Jennifer Adeghate; Renee Fisher; Wen Hou; Katherine Davoli; Michael W Epperly; Mohammed Saiful Huq; Peter Wipf; Jose-Alain Sahel; Joel S Greenberger; Andrew W Eller

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3290. doi:

ARVO Annual Meeting Abstract June 2021

PHENOTYPE-GENOTYPE CORRELATION AND PROGRESSION MODELING APPLIED TO MUTATIONS IN RPGR -RELATED ROD-CONE DYSTROPHY.

Marco Nassisi; Giuseppe De Bartolo; Saddek Mohand-Said; Vasily M. SMIRNOV; Aline Antonio; Christel Condroyer; Jose Alain Sahel; Christina Zeitz; Isabelle Audo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3238. doi:

ARVO Annual Meeting Abstract June 2021

Optogenetic GS030 Therapy in Subjects with Retinitis Pigmentosa: Safety and Tolerability Up to Two Years After Treatment Administration in the Phase 1/2a PIONEER Study

Joseph N Martel; Elise Boulanger-Scemama; Simona Degli Esposti; Francesco Galluppi; Laure Blouin; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3236. doi:

Perspective April 2021

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

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Todd A. Durham; Jacque L. Duncan; Allison R. Ayala; David G. Birch; Janet K. Cheetham; Frederick L. Ferris, III; Carel B. Hoyng; Mark E. Pennesi; José-Alain Sahel; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: blindness, rare diseases
Trans. Vis. Sci. Tech.. 2021; 10(4):23. doi: https://doi.org/10.1167/tvst.10.4.23

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

Vision Restoration by Optogenetic Therapy and Developments Toward Sonogenetic Therapy

A New Method for Visualizing Drusen and Their Progression in Flood-Illumination Adaptive Optics Ophthalmoscopy

Application of laser Doppler holography in the anterior segment to image blood flow and assess the corneal and lens transparency

Retinal degeneration in abetalipoproteinemia

Predictive model for incomplete and complete retinal pigment epithelium and outer retinal atrophy in non-exudative age related macular degeneration

A 1-Month Toxicology and Biodistribution NHP Pilot Study Evaluating a Single Subretinal Bilateral Administration of SPVN06 - A Novel AAV-Based Gene Therapy for the Treatment of Rod-Cone Dystrophies Agnostic of the Causative Mutation

3D visualization of human retina cells’ anatomy using expansion microscopy

Automated choroid layer segmentation based on wide-field SS-OCT images using deep residual encoder-decoder architecture

An automated choroid segmentation approach using transfer learning and encoder-decoder networks

SPVN06, a Novel Mutation-Independent AAV-based Gene Therapy, Protects Cone Degeneration in a Pig Model of Retinitis Pigmentosa

AAV-mediated Gene Therapy Restores Retinal Function in CRISPR-based Mouse Models of PRPF31 Retinitis Pigmentosa

A mouse model with specific inactivation of the thioredoxin-like protein encoded by the nucleoredoxin-like1 reveals its role in the prevention of secondary cone death in retinitis pigmentosa

Evaluation of the efficacy of rAAV2/2- ND4 gene therapy for Leber hereditary optic neuropathy compared with the natural history

Simultaneous Perception of Prosthetic and Natural Vision in Patients with Geographic Atrophy

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

A Novel Agent in Prevention of Acute Radiation Toxicity in the Mouse Retina

PHENOTYPE-GENOTYPE CORRELATION AND PROGRESSION MODELING APPLIED TO MUTATIONS IN RPGR -RELATED ROD-CONE DYSTROPHY.

Optogenetic GS030 Therapy in Subjects with Retinitis Pigmentosa: Safety and Tolerability Up to Two Years After Treatment Administration in the Phase 1/2a PIONEER Study

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium

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