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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

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

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

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

ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM

Kim Carlyle Worley; Ma'ayan Mero; William Hankey; Lonneke Haer-Wigman; Hafiz Muhammad Jafar Hussain; Kristy Lee; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Richard A Lewis; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):453.

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

Increased susceptibility to myopia in Prkca -/- mice, which lack PKCα, a marker of rod bipolar cells

Robert Duvoisin; Wilmet Baptiste; Tammie Haley; Jacques Callebert; Christina Zeitz; Catherine W Morgans

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3927.

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.

ARVO Annual Meeting Abstract June 2023

Isolated and syndromic retinal degeneration associated with POC5 variants.

Vasily M. SMIRNOV; Claire-Marie Dhaenens; Grunewald Olivier; Christel Condroyer; Aline Antonio; Jose Sahel; Christina Zeitz; Isabelle S Audo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4522.

ARVO Annual Meeting Abstract June 2023

Complete congenital stationary night blindness as a tool to study myopia

Wilmet Baptiste; Jérome Roger; Christelle Michiels; Jacques Callebert; Robert Duvoisin; Juliette Varin; Nuria Sánchez-Farías; Frank Schaeffel; José-Alain Sahel; Isabelle S Audo; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5235.

ARVO Annual Meeting Abstract June 2023

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

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.

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.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

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.

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. https://doi.org/10.1167/iovs.63.4.25

Includes: Supplemental Content

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.

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.

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

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

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

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

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)

ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM

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

Increased susceptibility to myopia in Prkca -/- mice, which lack PKCα, a marker of rod bipolar cells

A novel candidate gene, DUSP4 implicated in high myopia

Isolated and syndromic retinal degeneration associated with POC5 variants.

Complete congenital stationary night blindness as a tool to study myopia

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

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.

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

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

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

Retinal degeneration in abetalipoproteinemia

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

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