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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

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

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

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

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.

ARVO Annual Meeting Abstract June 2024

FALCON: A Prospective Natural History Study of Patients with Autosomal Dominant Optic Atrophy (ADOA)

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

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5117.

ARVO Annual Meeting Abstract June 2023

Leber Hereditary Optic Neuropathy (LHON): Online medical education can significantly improve physicians’ diagnostic competence and confidence, and improve therapy knowledge

Siggi Trier; Gillian Griffith; Karen Reid; Patrick Yu-Wai-Man; Valerio Carelli; Thomas Klopstock; Bart Peter Leroy; Nancy J Newman; Catherine Vignal-Clermont

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4079.

ARVO Annual Meeting Abstract June 2023

Gene Therapy for Leber Hereditary Optic Neuropathy

Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1345.

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

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

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

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

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

FALCON: A Prospective Natural History Study of Patients with Autosomal Dominant Optic Atrophy (ADOA)

Leber Hereditary Optic Neuropathy (LHON): Online medical education can significantly improve physicians’ diagnostic competence and confidence, and improve therapy knowledge

Gene Therapy for Leber Hereditary Optic Neuropathy

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