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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

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 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 2023

Gene Therapy for Leber Hereditary Optic Neuropathy

Patrick Yu-Wai-Man

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

ARVO Annual Meeting Abstract June 2023

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Chiara La Morgia; Catherine Vignal-Clermont; Valerio Carelli; Rabih Hage; Mark L. Moster; Robert C Sergott; Sean P Donahue; Patrick Yu-Wai-Man; Hélène Dollfus; Thomas Klopstock; Vasily M. SMIRNOV; Catherine Cochard; Claudia Prospero Ponce; Francis Munier; Magali Taiel; Jose Sahel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1956.

ARVO Annual Meeting Abstract June 2023

Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4 -LHON patients: the RESTORE study

Patrick Yu-Wai-Man; Nancy J Newman; Biousse Valérie; Valerio Carelli; Mark L. Moster; Catherine Vignal-Clermont; Thomas Klopstock; Alfredo A. Sadun; Robert C Sergott; Magali Taiel; José-Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1955.

ARVO Annual Meeting Abstract June 2023

Long-term efficacy of idebenone in patients with LHON according to age at onset and disease phase: Results from the LEROS study

Livia Tomasso; Valerio Carelli; Chiara La Morgia; Patrick Yu-Wai-Man; Xavier Llòria; Thomas Klopstock

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1953.

ARVO Annual Meeting Abstract June 2023

Psychometric validity of the National Eye Institute Visual Function Questionnaire in patients with the m.11778G>A mutation causing Leber hereditary optic neuropathy

Benson Chen; John Britton; Patrick Yu-Wai-Man; Mike Horton

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1952.

ARVO Annual Meeting Abstract June 2023

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

Joshua Harvey; Neringa Jurkute; Gavin Arno; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1896.

ARVO Annual Meeting Abstract June 2023

Electrophysiological and clinical assessment of patients with pathogenic biallelic NSUN3 variants.

Anthony G Robson; Neringa Jurkute; Lindsey Van Haute; Axel Petzold; Enrico Bugiardini; James Acheson; William Macken; Robert DS Pitceathly; Andrew R Webster; Michal Minczuk; Gavin Arno; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4119.

ARVO Annual Meeting Abstract June 2023

Genotype-Phenotype Correlations in OPA1 -Positive Autosomal Dominant Optic Atrophy

Eun Hee Hong; Joshua Harvey; Benson Chen; Gerard Smits; Neringa Jurkute; Gavin Arno; Victoria Nesbitt; Marcela Votruba; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4082.

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.

Neuro-ophthalmology January 2023

Psychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy

PDF

Benson S. Chen; Patrick Yu-Wai-Man; Mike Horton
TAGS: optic atrophy, hereditary, leber, psychometrics, validity of results, vision
Trans. Vis. Sci. Tech.. 2023; 12(1):23. https://doi.org/10.1167/tvst.12.1.23

ARVO Annual Meeting Abstract June 2022

Perioperative prednisolone administration attenuates systemic immune activation following intravitreal injection of AAV2, but fails to enable repeated gene transfer to the inner retina

Michael Whitehead; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):76 – A0049.

ARVO Annual Meeting Abstract June 2022

The phase III REFLECT trial: efficacy of bilateral gene therapy for Leber hereditary optic neuropathy (LHON) is maintained 2 years post administration

Patrick Yu-Wai-Man; Nancy Newman; Prem S Subramanian; Mark Moster; An-Guor Wang; Sean Donahue; Bart Leroy; Valerio Carelli; Valerie Biousse; Catherine Vignal-Clermont; Alfredo A Sadun; Gema Fernandez; Elizabeth Fortin; Rudrani Banik; Magali Taiel; Jose Alain Sahel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):434.

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

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)

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

Gene Therapy for Leber Hereditary Optic Neuropathy

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4 -LHON patients: the RESTORE study

Long-term efficacy of idebenone in patients with LHON according to age at onset and disease phase: Results from the LEROS study

Psychometric validity of the National Eye Institute Visual Function Questionnaire in patients with the m.11778G>A mutation causing Leber hereditary optic neuropathy

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

Electrophysiological and clinical assessment of patients with pathogenic biallelic NSUN3 variants.

Genotype-Phenotype Correlations in OPA1 -Positive Autosomal Dominant Optic Atrophy

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

Psychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy

Perioperative prednisolone administration attenuates systemic immune activation following intravitreal injection of AAV2, but fails to enable repeated gene transfer to the inner retina

The phase III REFLECT trial: efficacy of bilateral gene therapy for Leber hereditary optic neuropathy (LHON) is maintained 2 years post administration

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