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Retina April 2025

PCARE -Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History

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Lorenzo Bianco; Alessio Antropoli; Amine Benadji; Raphaël Atia; Oana Palacci; Christel Condroyer; Aline Antonio; Julien Navarro; Maurizio Battaglia Parodi; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: genetics, natural history, retinal diseases, visual impairment, follow-up, eye
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):61. https://doi.org/10.1167/iovs.66.4.61

Includes: Supplemental Content

Retina April 2025

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

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Alessio Antropoli; Lorenzo Bianco; Xavier Zanlonghi; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Claire-Marie Dhaenens; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: atypical, genotype, phenotype, retinal diseases, retinitis pigmentosa, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):7. https://doi.org/10.1167/iovs.66.4.7

Includes: Supplemental Content

Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

Retina September 2024

Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia

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Baptiste Wilmet; Christelle Michiels; Jingyi Zhang; Jacques Callebert; José Alain Sahel; Serge Picaud; Isabelle Audo; Christina Zeitz
TAGS: lens (device), lens, crystalline, mice, myopia, recovery of function, 3,4-dihydroxyphenylacetic acid
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):18. https://doi.org/10.1167/iovs.65.11.18

ARVO Annual Meeting Abstract June 2024

Six-year results of a Phase I/IIa gene therapy trial in patients with Usher Syndrome Type-1B (USH1B)

Maria Parker; Paul Yang; Dongseok Choi; Saddek Mohand-Said; Shobana Aravind; Ambar Faridi; Elvira Chegarnov; Charles Butler; Pierre-Olivier Barale; Andreas K Lauer; Tim Stout; David Wilson; Richard Weleber; Mark E Pennesi; Jose Alain Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5327.

ARVO Annual Meeting Abstract June 2024

SD-OCT Features and Macular Sensitivity in ABCA4 -related Stargardt disease (STGD1)

Yanzhao WANG; Folahan Adesola Ibukun; Elias Traboulsi; David G Birch; Janet S Sunness; Rupert Strauss; Isabelle S Audo; Michel Michaelides; SriniVas R Sadda; Hendrik P Scholl; Eberhart Zrenner; Michael S Ip; Artur V Cideciyan; Paul S Bernstein; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):975.

ARVO Annual Meeting Abstract June 2024

Longitudinal structure-function (S-F) relationship between short-wavelength autofluorescence (SW-FAF) and macular sensitivity (MS) in ABCA4 -associated Stargardt (STGD1) disease

Folahan Adesola Ibukun; Yanzhao Wang; Artur V Cideciyan; David G Birch; Janet S Sunness; Isabelle S Audo; Michel Michaelides; Elias Traboulsi; SriniVas R Sadda; Michael S Ip; Hendrik P Scholl; Rupert Strauss; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3350.

ARVO Annual Meeting Abstract June 2024

Both NXNL1 and NXNL2 are important for photoreceptor survival in the mouse

Zheng LI; Imen Harichane; Ying Yang; Emmanuelle Clerin; Jose Alain Sahel; Isabelle S Audo; Christina Zeitz; Thierry Leveillard

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4771.

ARVO Annual Meeting Abstract June 2024

Spatial and anatomic parameters from SD-OCT and associations with best corrected visual acuity (BCVA) in ABCA4-associated Stargardt Disease (STGD1)

Xiangrong Kong; Yanzhao WANG; Folahan Adesola Ibukun; David G Birch; Elias Traboulsi; Janet S Sunness; Paul S Bernstein; Isabelle S Audo; Michel Michaelides; SriniVas R Sadda; Hendrik P Scholl; Eberhart Zrenner; Michael S Ip; Sheila K West; Artur V Cideciyan; Rupert Strauss

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2374.

ARVO Annual Meeting Abstract June 2024

Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) spectrum: progression kinetics and late-stage findings

Alessio Antropoli; Lorenzo Bianco; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3122.

ARVO Annual Meeting Abstract June 2024

Full-field Electroretinogram in Extensive Macular Atrophy with Pseudodrusen-like deposits (EMAP)

Lorenzo Bianco; Alessio Antropoli; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1533.

ARVO Annual Meeting Abstract June 2024

Identification of a novel gene defect UBAP1L underlying for autosomal recessive rod-cone and cone-rod dystrophy

Isabelle S Audo; julien Navarro; Leila Azizzadeh; Cécile Méjécase; Shahad Albadri; Andrea Amprou; Tasnim Ben Yacoub; Juliette Wohlschlegel; Lorenzo Bianco; Alessio ANTROPOLI; Marco Nassisi; Said El Shameh; Vasily M. Smirnov; Jose Sahel; Filippo Del Bene; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1518.

ARVO Annual Meeting Abstract June 2024

Vision parameters associated with worse balance in retinitis pigmentosa

Rakie Cham; Marion Losdat; Mark S Redfern; Galen Holland; Caroline de Montleau; Cécilia Coen; Isabelle S Audo; Jose Alain Sahel; Colas Nils Authié

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2574.

ARVO Annual Meeting Abstract June 2024

Assessing IRD progression over one year: performance-based testing in virtual reality with a visual search task.

Caroline Kurek; Alexis Defer; Caroline de Montleau; Cécilia Coen; Philippe Chaumet-Riffaud; Isabelle S Audo; Jose Alain Sahel; Colas Nils Authié

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3342.

ARVO Annual Meeting Abstract June 2024

Real-world safety and effectiveness of voretigene neparvovec: Year 3 interim results from the PERCEIVE study

M Dominik Fischer; Francesca Simonelli; Isabelle S Audo; Bart Peter Leroy; Line Kessel; Joao Pedro Marques; Mirjana Bjelos; James Bainbridge; Manar Aoun; Rainer Maier; Rehna Khan; Andreas Clemens; Frank G Holz

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3290.

ARVO Annual Meeting Abstract June 2024

PRODYGY: A First-in-Human Trial of Rod-Derived Cone Viability Factor (RdCVF) Gene Therapy in Subjects with Rod-Cone Dystrophy

Joseph N Martel; Isabelle S Audo; Laure Blouin; Anne-Sophie Gautron; Alice Le Meur; Nelle Messeca; Anne Celle; James A Gow; Daniel C Chung

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3091.

ARVO Annual Meeting Abstract June 2024

Evolution of Markers of Retinal Degeneration after One Year of Prospective Follow-up in Patients with Rod-Cone Dystrophy: The Natural History Study PHENOROD2

Laure Blouin; Daniel C Chung; James A Gow; Alice Le Meur; Anne Celle; Jose Alain Sahel; Joseph N Martel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3090.

ARVO Annual Meeting Abstract June 2024

A novel candidate gene, DUSP4 implicated in high myopia

Christina Zeitz; Wilmet Baptiste; Christelle Michiels; Jingyi ZHANG; Helen Frederiksen; Jacques Callebert; Marie-Laure Gimenez; Catherine W Morgans; Robert Duvoisin; Linda Horan; Robin Plevin; Jose Sahel; Serge A Picaud; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6152.

Retina June 2024

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

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Bela Parekh; Jacque L. Duncan; Lassana Samarakoon; Michele Melia; Maria Fernanda Abalem; Chris A. Andrews; Isabelle Audo; Allison R. Ayala; Chris Bradley; Janet K. Cheetham; Gislin Dagnelie; Todd A. Durham; Rachel M. Huckfeldt; Gabrielle D. Lacy; Brett Malbin; Michel Michaelides; David C. Musch; Nicholas Peck-Dimit; Katarina Stingl; Christina Y. Weng; Alex Z. Zmejkoski; K. Thiran Jayasundera; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: michigan, questionnaires, retinal degeneration, self-report, vision, vision tests
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):5. https://doi.org/10.1167/iovs.65.6.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Mobility and Postural Testing in Patients with Rod-Cone Dystrophy Enrolled in the Prospective Natural History Study PHENOROD2

Mylène Poujade; Laure Blouin; Colas Nils Authié; Daniel C Chung; Alice Le Meur; KEVIN NEUFER; Anne Celle; Jose Sahel; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4644.

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PCARE -Associated Retinopathy – Genetics, Clinical Characteristics, and Natural History

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia

Six-year results of a Phase I/IIa gene therapy trial in patients with Usher Syndrome Type-1B (USH1B)

SD-OCT Features and Macular Sensitivity in ABCA4 -related Stargardt disease (STGD1)

Longitudinal structure-function (S-F) relationship between short-wavelength autofluorescence (SW-FAF) and macular sensitivity (MS) in ABCA4 -associated Stargardt (STGD1) disease

Both NXNL1 and NXNL2 are important for photoreceptor survival in the mouse

Spatial and anatomic parameters from SD-OCT and associations with best corrected visual acuity (BCVA) in ABCA4-associated Stargardt Disease (STGD1)

Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP) spectrum: progression kinetics and late-stage findings

Full-field Electroretinogram in Extensive Macular Atrophy with Pseudodrusen-like deposits (EMAP)

Identification of a novel gene defect UBAP1L underlying for autosomal recessive rod-cone and cone-rod dystrophy

Vision parameters associated with worse balance in retinitis pigmentosa

Assessing IRD progression over one year: performance-based testing in virtual reality with a visual search task.

Real-world safety and effectiveness of voretigene neparvovec: Year 3 interim results from the PERCEIVE study

PRODYGY: A First-in-Human Trial of Rod-Derived Cone Viability Factor (RdCVF) Gene Therapy in Subjects with Rod-Cone Dystrophy

Evolution of Markers of Retinal Degeneration after One Year of Prospective Follow-up in Patients with Rod-Cone Dystrophy: The Natural History Study PHENOROD2

A novel candidate gene, DUSP4 implicated in high myopia

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Mobility and Postural Testing in Patients with Rod-Cone Dystrophy Enrolled in the Prospective Natural History Study PHENOROD2

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