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ARVO Annual Meeting Abstract June 2025

Individual disease trajectories by mutation in subacute/dynamic eyes from the Case Record Survey-2

Xavier Llòria; Bart Peter Leroy; Patrick Yu-Wai-Man; Judith van Everdingen; Maciej Krawczynski; Costanza Lamperti; Valerio Carelli; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3206.

ARVO Annual Meeting Abstract June 2025

Melanopsin stimulus is more detectable than a perceptual control following cone spectra modelling

Rahul Makam; Andrew Rider; Patrick Yu-Wai-Man; Michael Gilhooley

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):534.

ARVO Annual Meeting Abstract June 2025

Flavoprotein Fluorescence in the 24-Month FALCON Natural History Study of Autosomal Dominant Optic Atrophy: A Potential Biomarker for Mitochondrial Dysfunction

Marcela Votruba; Steven Gross; Byron L Lam; Yaping Joyce Liao; Raghu C Mudumbai; Kelly Saluti; Barry Ticho; Yue Wang; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5862.

ARVO Annual Meeting Abstract June 2025

Predictive Factors of Final Visual Outcome in Patients with Leber Hereditary Optic Neuropathy Treated with Lenadogene Nolparvovec Gene Therapy

Piero Barboni; Nancy Newman; Valérie Biousse; Patrick Yu-Wai-Man; Valerio Carelli; Catherine Vignal; Constant Josse; Magali Taiel; Jose Alain Sahel; Robert C Sergott

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5861.

ARVO Annual Meeting Abstract June 2025

Visual acuity outcomes by causative mutation in Leber Hereditary Optic Neuropathy: Analyses from LEROS and Case Record Survey-2

Rustum Karanjia; Bart Peter Leroy; Patrick Yu-Wai-Man; Judith van Everdingen; Maciej Krawczynski; Costanza Lamperti; Valerio Carelli; Xavier Llòria; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5858.

ARVO Annual Meeting Abstract June 2025

Patient demographics and disease characteristics in a historical cohort of patients with Leber Hereditary Optic Neuropathy from Case Record Survey-2

Prem S Subramanian; Bart Peter Leroy; Patrick Yu-Wai-Man; Judith van Everdingen; Maciej Krawczynski; Costanza Lamperti; Valerio Carelli; Xavier Llòria; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3210.

ARVO Annual Meeting Abstract June 2025

Efficacy and Safety of Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy in the Real-Life Setting

Chiara La Morgia; Catherine Vignal; Valerio Carelli; Mark Moster; Robert C Sergott; Sarah Thornton; Sean P. Donahue; Patrick Yu-Wai-Man; Hélène Dollfus; Thomas Klopstock; Claudia Priglinger; Rabih Hage; Vasily Smirnov; Catherine Cochard; Marie-Bénédicte Rougier; Pierre Lebranchu; Caroline Froment; Frédéric Pollet-Villard; Marie-Alice Laville; Claudia Prospero Ponce; Scott Walter; Francis L Munier; Pauline Zoppe; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3209.

ARVO Annual Meeting Abstract June 2025

Long-Term Outcomes of Bilateral Injection of Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy

Patrick Yu-Wai-Man; Nancy Newman; Prem S Subramanian; Sarah Thornton; An-Guor Wang; Sean P. Donahue; Bart Peter Leroy; Valerio Carelli; Valérie Biousse; Catherine Vignal; Alfredo A Sadun; Robert C Sergott; Gema Rebolleda Fernandez; Bart Chwalisz; Rudrani Banik; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3199.

ARVO Annual Meeting Abstract June 2025

Therapeutic intervention in Leber Hereditary Optic Neuropathy: later is better?

Michele Carbonelli; Giulia Amore; Thomas Klopstock; Patrick Yu-Wai-Man; Judith van Everdingen; Tanya Lushchyk; Piero Barboni; Valerio Carelli; Chiara La Morgia; Martina Romagnoli

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3190.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology June 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

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Neringa Jurkute; Heiko Brennenstuhl; Monika Kustermann; Lindsey Van Haute; Christian D. Mutti; Enrico Bugiardini; Takayuki Handa; Masaru Shimura; Axel Petzold; James Acheson; Anthony G. Robson; William L. Macken; Michael G. Hanna; Robert D. S. Pitceathly; Ashirwad Merve; Urania Kotzaeridou; Stefan Kölker; Michael Freilinger; Marcus Erdler; Reginald E. Bittner; Johannes A. Mayr; Yasushi Okazaki; Kei Murayama; Holger Prokisch; Andrew R. Webster; Michal Minczuk; Gavin Arno; Berthold Pemp; Georg F. Hoffmann; Wolfgang M. Schmidt; Patrick Yu-Wai-Man
TAGS: family, mitochondrial diseases, optic atrophy, phenotype, mitochondria, optic nerve disorders, respiratory chain
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):17. https://doi.org/10.1167/iovs.66.6.17

Includes: Supplemental Content

Vision Sciences Society Annual Meeting Abstract September 2024

Saccade Profiles Across Tasks After Childhood Hemispherectomy

Maria Z. Chroneos; J. Patrick Mayo; Marlene Behrmann

Journal of Vision. 2024; 24(10):451. https://doi.org/10.1167/jov.24.10.451

Vision Sciences Society Annual Meeting Abstract September 2024

Neuronal population estimates of spatial attention are robust to the presence of microsaccades

Shawn Willett; Patrick Mayo

Journal of Vision. 2024; 24(10):1186. https://doi.org/10.1167/jov.24.10.1186

Vision Sciences Society Annual Meeting Abstract September 2024

Eye Movement Dynamics as a Measure of Expertise in the Video Game ExciteBike

Emily Levin; Jasmine Horton; J. Patrick Mayo

Journal of Vision. 2024; 24(10):1025. https://doi.org/10.1167/jov.24.10.1025

ARVO Imaging in the Eye Conference Abstract July 2024

Measurement of Mitochondrial Dysfunction in Autosomal Dominant Optic Atrophy (ADOA) Assessed in FALCON, A Non-interventional, Natural History Study

Raghu Mudumbai; Joyce Liao; Patrick Yu-Wai-Man; Byron Lam; Marcela Votruba; Kelly Saluti; Yuw Wang; Barry Ticho; Steven Gross

Invest. Ophthalmol. Vis. Sci.. 2024; 65(9):PB00103.

ARVO Annual Meeting Abstract June 2024

Visual acuity outcomes by causative mutation in Leber hereditary optic neuropathy: Analysis of historical data from CRS-2

Judith van Everdingen; Bart Peter Leroy; Patrick Yu-Wai-Man; Maciej Krawczynski; Costanza Lamperti; Valerio Carelli; Xavier Llòria; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):OD11.

ARVO Annual Meeting Abstract June 2024

OSPREY: An Open-label Study to Investigate Safety, Tolerability, and Exposure of the Antisense Oligonucleotide (ASO) STK-002 in Patients with Autosomal Dominant Optic Atrophy (ADOA)

Marcela Votruba; Patrick Yu-Wai-Man; Kelly Saluti; Yuw Wang; Barry Ticho; Steven Gross

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):88.

ARVO Annual Meeting Abstract June 2024

Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy in the Real-Life Setting

Jose Alain Sahel; Catherine Vignal-Clermont; Valerio Carelli; Chiara La Morgia; Mark L. Moster; Robert C Sergott; Sean P. Donahue; Helene Dollfus; Thomas Klopstock; Rabih Hage; Vasily Smirnov; Catherine Cochard; Francis Munier; Pauline Zoppe; Magali Taiel; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):419.

ARVO Annual Meeting Abstract June 2024

Treatment Options For Acute/Subacute Patients With m.11778G>A MT-ND4 Leber Hereditary Optic Neuropathy: A Meta-Analysis

Patrick Yu-Wai-Man; Nancy J. Newman; Valerio Carelli; Valerie Biousse; Catherine Vignal-Clermont; François Montestruc; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):416.

ARVO Annual Meeting Abstract June 2024

Pathogenic OPA1 variants disrupt calcium homeostasis in iPSC-derived retinal ganglion cells increasing their susceptibility to cell death

Michael Whitehead; Kritarth Singh; Paul Sladen; Joshua Harvey; Giada Becchi; Michael Duchen; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3820.

ARVO Annual Meeting Abstract June 2024

Mitochondrial Dysfunction in Autosomal Dominant Optic Atrophy (ADOA) Assessed in FALCON, A Non-interventional, Natural History Study

Raghu Mudumbai; Yaping Joyce Liao; Patrick Yu-Wai-Man; Byron L Lam; Marcela Votruba; Kelly Saluti; Yuw Wang; Steven Gross; Barry Ticho

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5268.

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Individual disease trajectories by mutation in subacute/dynamic eyes from the Case Record Survey-2

Melanopsin stimulus is more detectable than a perceptual control following cone spectra modelling

Flavoprotein Fluorescence in the 24-Month FALCON Natural History Study of Autosomal Dominant Optic Atrophy: A Potential Biomarker for Mitochondrial Dysfunction

Predictive Factors of Final Visual Outcome in Patients with Leber Hereditary Optic Neuropathy Treated with Lenadogene Nolparvovec Gene Therapy

Visual acuity outcomes by causative mutation in Leber Hereditary Optic Neuropathy: Analyses from LEROS and Case Record Survey-2

Patient demographics and disease characteristics in a historical cohort of patients with Leber Hereditary Optic Neuropathy from Case Record Survey-2

Efficacy and Safety of Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy in the Real-Life Setting

Long-Term Outcomes of Bilateral Injection of Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy

Therapeutic intervention in Leber Hereditary Optic Neuropathy: later is better?

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

Saccade Profiles Across Tasks After Childhood Hemispherectomy

Neuronal population estimates of spatial attention are robust to the presence of microsaccades

Eye Movement Dynamics as a Measure of Expertise in the Video Game ExciteBike

Measurement of Mitochondrial Dysfunction in Autosomal Dominant Optic Atrophy (ADOA) Assessed in FALCON, A Non-interventional, Natural History Study

Visual acuity outcomes by causative mutation in Leber hereditary optic neuropathy: Analysis of historical data from CRS-2

OSPREY: An Open-label Study to Investigate Safety, Tolerability, and Exposure of the Antisense Oligonucleotide (ASO) STK-002 in Patients with Autosomal Dominant Optic Atrophy (ADOA)

Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy in the Real-Life Setting

Treatment Options For Acute/Subacute Patients With m.11778G>A MT-ND4 Leber Hereditary Optic Neuropathy: A Meta-Analysis

Pathogenic OPA1 variants disrupt calcium homeostasis in iPSC-derived retinal ganglion cells increasing their susceptibility to cell death

Mitochondrial Dysfunction in Autosomal Dominant Optic Atrophy (ADOA) Assessed in FALCON, A Non-interventional, Natural History Study

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