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ARVO Annual Meeting Abstract June 2024

Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

Christina Eckmann-Hansen; Toke Bek; Birgit Sander; Isabelle Meunier; Béatrice Bocquet; Xavier Zanlonghi; Guy Lenaers; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):70.

ARVO Annual Meeting Abstract June 2023

mRNA-based therapeutics for mitochondrial optic neuropathies

Guy Lenaers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1347.

ARVO Annual Meeting Abstract June 2023

OPA1 deletions account for 26% of cases with autosomal dominant optic atrophy (ADOA, Kjer disease)

Xavier ZANLONGHI; Guy Lenaers; Majida charif; Anne Barrucand; Agnès GUICHET; Pascal Reynier; Valèrie Desquiret-Dumas; Patrizia Amati-Bonneau

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4112.

Genetics May 2021

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

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Neringa Jurkute; Priya D. Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G. Robson; F. Lucy Raymond; Mary M. Reilly; Patrick Yu-Wai-Man; Anthony T. Moore; Andrew R. Webster; Gavin Arno; for the Genomics England Research Consortium
TAGS: family, optic atrophy, phenotype, recurrence, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):2. https://doi.org/10.1167/iovs.62.6.2

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811.

Glaucoma June 2019

Nicotinamide Deficiency in Primary Open-Angle Glaucoma

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Judith Kouassi Nzoughet; Juan Manuel Chao de la Barca; Khadidja Guehlouz; Stéphanie Leruez; Laurent Coulbault; Stéphane Allouche; Cinzia Bocca; Jeanne Muller; Patrizia Amati-Bonneau; Philippe Gohier; Dominique Bonneau; Gilles Simard; Dan Milea; Guy Lenaers; Vincent Procaccio; Pascal Reynier
TAGS: cohort studies, glaucoma, niacinamide, open-angle glaucoma, pellagra, plasma
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2509-2514. https://doi.org/10.1167/iovs.19-27099

Biochemistry and Molecular Biology September 2018

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

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Stéphanie Leruez; Alexandre Marill; Thomas Bresson; Grégoire de Saint Martin; Adrien Buisset; Jeanne Muller; Lydie Tessier; Cédric Gadras; Christophe Verny; Philippe Gohier; Patrizia Amati-Bonneau; Guy Lenaers; Dominique Bonneau; Gilles Simard; Dan Milea; Vincent Procaccio; Pascal Reynier; Juan Manuel Chao de la Barca
TAGS: aging, glaucoma, metabolites, metabolomics, mitochondria, older adult, open-angle glaucoma, pathophysiology, polyamines
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4355-4361. https://doi.org/10.1167/iovs.18-24938

Includes: Supplemental Content

Biochemistry and Molecular Biology February 2018

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines

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Stéphanie Leruez; Thomas Bresson; Juan M. Chao de la Barca; Alexandre Marill; Grégoire de Saint Martin; Adrien Buisset; Jeanne Muller; Lydie Tessier; Cédric Gadras; Christophe Verny; Patrizia Amati-Bonneau; Guy Lenaers; Philippe Gohier; Dominique Bonneau; Gilles Simard; Dan Milea; Vincent Procaccio; Pascal Reynier
TAGS: amino acids, exfoliation syndrome, metabolomics, plasma, polyamines, metabolites
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):1025-1032. https://doi.org/10.1167/iovs.17-23055

Includes: Supplemental Content

Biochemistry and Molecular Biology January 2018

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 ( OPA1 )-Related Disorders

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Cinzia Bocca; Judith Kouassi Nzoughet; Stéphanie Leruez; Patrizia Amati-Bonneau; Marc Ferré; Mariame-Selma Kane; Charlotte Veyrat-Durebex; Juan Manuel Chao de la Barca; Arnaud Chevrollier; Chadi Homedan; Christophe Verny; Dan Miléa; Vincent Procaccio; Gilles Simard; Dominique Bonneau; Guy Lenaers; Pascal Reynier
TAGS: metabolites, metabolomics, optic atrophy, autosomal dominant, plasma, purine metabolism pathway
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):185-195. https://doi.org/10.1167/iovs.17-23027

ARVO Annual Meeting Abstract June 2017

Retinal cardiolipin metabolism is altered in a mouse model of Dominant Optic Atrophy.

Emmanuelle Sarzi; Allel Chabli; Marie Seveno; Christian P Hamel; Agnes Müller; Guy Lenaers; Cecile Delettre

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3321.

Biochemistry and Molecular Biology February 2017

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice

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Juan Manuel Chao de la Barca; Gilles Simard; Emmanuelle Sarzi; Tanguy Chaumette; Guillaume Rousseau; Stéphanie Chupin; Cédric Gadras; Lydie Tessier; Marc Ferré; Arnaud Chevrollier; Valérie Desquiret-Dumas; Naïg Gueguen; Stéphanie Leruez; Christophe Verny; Dan Miléa; Dominique Bonneau; Patrizia Amati-Bonneau; Vincent Procaccio; Christian Hamel; Guy Lenaers; Pascal Reynier; Delphine Prunier-Mirebeau
TAGS: mice, optic atrophy, autosomal dominant, optic nerve, metabolites
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):812-820. https://doi.org/10.1167/iovs.16-21116

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Human FATP1 overexpression in mouse retinal pigment epithelium.

Aurélie Cubizolle; laurent guillou; Claire Angebault; marie seveno; chantal cazevieille; Guy Lenaers; Philippe Brabet; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5456.

ARVO Annual Meeting Abstract April 2014

Visual phenotyping of Wfs1 mutant mice, models of Wolfram syndrome neuronal and diabetic symptoms

Cecile Delettre; Christian P Hamel; Sulev Koks; Marie Seveno; Guy Lenaers; Delphine M Bonnet Wersinger

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6177.

ARVO Annual Meeting Abstract June 2013

Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients

agathe roubertie; Nicolas Leboucq; Hervé Brunel; Emmanuelle Lebars; Michel Mondain; Patrizia Amati Bonneau; Max Villain; Isabelle Meunier; Guy Lenaers; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1205.

ARVO Annual Meeting Abstract June 2013

New candidate genes for inherited optic atrophy

Cecile Delettre; Maxime Hebrard; Francois Halloy; agathe roubertie; Christian Hamel; Guy Lenaers

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1356.

ARVO Annual Meeting Abstract June 2013

Evaluation of retinal and optic nerve stress in Wfs1-/- mouse model of Wolfram syndrome

Delphine Bonnet Wersinger; Christian Hamel; Yukio Tanizawa; Guy Lenaers; Cecile Delettre

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5085.

ARVO Annual Meeting Abstract March 2012

Characterization of visual impairment in a Wfs1 mouse model of Wolfram syndrome

Christian P. Hamel; Cécile DELETTRE CRIBAILLET; Guy LENAERS; Yukio TANIZAWA; Delphine BONNET WERSINGER

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2984.

ARVO Annual Meeting Abstract March 2012

Gene therapy for Dominant Optic Atrophy: a first pre-clinical trial on the OPA1delTTAG mouse

Guy Lenaers; Marie Seveno; Lucie Elzière; Emmanuelle Sarzi; Vasiliki Kalatzis; Christian P. Hamel

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1896.

ARVO Annual Meeting Abstract April 2011

Mutations In Opa8 Are Associated With Mild Optic Atrophy And Severe Deafness

Cecile Delettre; Laetitia Buret; Guy Rebillard; Marie Pequignot; Marcio Do-cruzeiro; Karen Cornille; Marc Lenoir; Patricia Amati-Bonneau; Christian Hamel; Guy Lenaers

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5879.

ARVO Annual Meeting Abstract April 2011

New Opa1 Mouse Model: From Dominant Optic Atrophy To DOA "Plus" Phenotype

Emmanuelle Sarzi; Claire Prouteau; Chantal Cazevieille; Guy Bielicki; Nathalie Boddaert; Valérie Rigau; Cécile Delettre; Christian Hamel; Pascal Reynier; Guy Lenaers

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5881.

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Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

mRNA-based therapeutics for mitochondrial optic neuropathies

OPA1 deletions account for 26% of cases with autosomal dominant optic atrophy (ADOA, Kjer disease)

Expanding the FDXR -Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

CPH1, a new gene for Dominant Optic Atrophy

Nicotinamide Deficiency in Primary Open-Angle Glaucoma

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 ( OPA1 )-Related Disorders

Retinal cardiolipin metabolism is altered in a mouse model of Dominant Optic Atrophy.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice

Human FATP1 overexpression in mouse retinal pigment epithelium.

Visual phenotyping of Wfs1 mutant mice, models of Wolfram syndrome neuronal and diabetic symptoms

Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients

New candidate genes for inherited optic atrophy

Evaluation of retinal and optic nerve stress in Wfs1-/- mouse model of Wolfram syndrome

Characterization of visual impairment in a Wfs1 mouse model of Wolfram syndrome

Gene therapy for Dominant Optic Atrophy: a first pre-clinical trial on the OPA1delTTAG mouse

Mutations In Opa8 Are Associated With Mild Optic Atrophy And Severe Deafness

New Opa1 Mouse Model: From Dominant Optic Atrophy To DOA "Plus" Phenotype

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