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ARVO Annual Meeting Abstract June 2025

Fast and Slow Improvements in Rod sensitivity in LCA1 Patients Followed Over Three Years After Subretinal Gene Therapy

Artur V Cideciyan; Alejandro J. Roman; Alexander Sumaroka; Malgorzata Swider; Alexandra Viviann Garafalo; Vivian Wu; Iryna Viarbitskaya; Allen Ho; Laura P Pardon; Dan Yoon; Kenji Fujita; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6386.

ARVO Annual Meeting Abstract June 2025

Quantitative Comparison of Two Physical Mobility Tests as Functions of FST and BCVA to Evaluate Therapeutic Benefit in LCA1 Patients Treated with Unilateral Gene Therapy

Alexandra Viviann Garafalo; Alejandro J. Roman; Vivian Wu; Iryna Viarbitskaya; Robert Russell; Allen C. Ho; Laura P Pardon; Dan Yoon; Kenji Fujita; Tomas S Aleman; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6384.

ARVO Annual Meeting Abstract June 2025

Recovery of Cone-Mediated Vision in a Severe Ciliopathy after Gene Augmentation: One Year Results of a Phase I/II Trial for LCA5 -LCA

Tomas S Aleman; Artur V Cideciyan; Katherine E. Uyhazi; Mariejel L Weber; Alejandro J. Roman; Malgorzata Swider; Alexander Sumaroka; Erin C O'Neil; Arlene J Santos; Katherine H Maguire; Elena M Aleman; Kelsey M Parchinski; Rebecca Kim; Makayla Fradin; Junwei Sun; Drew H Scoles; Vivian Wu; Alexandra Viviann Garafalo; Ashwath Jayagopal; Ben Yerxa; Sarah Tuller; Albert M Maguire; Jean Bennett

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):881.

ARVO Annual Meeting Abstract June 2025

Endogenous Levels of N -acetylcysteine in Human Plasma in the NAC Attack Study

Alyssa C. Bonnell; Jennifer R Chao; Yanzhao WANG; Hailey Ahrens; Hossein Ameri; Nancy Aychoua; Theo de Boer; Abby T Fahim; Dana Frank; Alexandra Viviann Garafalo; Sandeep Grover; Rachel M Huckfeldt; Robert B Hufnagel; Folahan Adesola Ibukun; Robert K Koenekoop; Jennifer I Lim; Mary McCormick; Zainab Rustam; Richard N Sather; Aliya Siddiqui; Peter A Campochiaro; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3150.

Retina December 2024

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

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Tomas S. Aleman; Alejandro J. Roman; Katherine E. Uyhazi; Yu You Jiang; Emma C. Bedoukian; Alexander Sumaroka; Vivian Wu; Malgorzata Swider; Iryna Viarbitskaya; Robert C. Russell; Elizabeth O. Shagena; Arlene J. Santos; Leona W. Serrano; Kelsey M. Parchinski; Rebecca J. Kim; Mariejel L. Weber; Alexandra V. Garafalo; Dorothy A. Thompson; Albert M. Maguire; Jean Bennett; Drew H. Scoles; Erin C. O'Neil; Jessica I. W. Morgan; Artur V. Cideciyan
TAGS: pediatrics, retina, retinal cone, retinal degeneration, vision, photoreceptors, diagnostic imaging, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):30. https://doi.org/10.1167/iovs.65.14.30

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Artur V Cideciyan; Randa TH Li; Alejandro J Roman; Alexander Sumaroka; Chloe M Stanton; Malgorzata Swider; Alexandra V Garafalo; Elise Heon; Ajoy Vincent; Alan F Wright; Roly Megaw; Tomas S Aleman; Andrew C Browning; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1385.

ARVO Annual Meeting Abstract June 2024

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

Emma Bedoukian; Jean Bennett; Katherine E. Uyhazi; Albert Maguire; Erin O'Neil; Emily Krauss; Alejandro J Roman; Alexander Sumaroka; Malgorzata Swider; Drew Scoles; Alexandra V Garafalo; Artur V Cideciyan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2209.

ARVO Annual Meeting Abstract June 2024

AAV8- hLCA5 Subretinal Delivery to the Macula in LCA5 -associated Leber Congenital Amaurosis ( LCA5 -LCA): Preliminary Safety and Efficacy Results of an Ongoing Phase I/II Gene Therapy Trial

Tomas S Aleman; Artur V Cideciyan; Mariejel L Weber; Arlene Santos; Katherine E. Uyhazi; Kelsey Parchinski; William Chung; Paris Margaritis; junwei sun; Drew Scoles; Alexandra V Garafalo; Ashwath Jayagopal; Benjamin R Yerxa; Sarah Tuller; Albert Maguire; Jean Bennett

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3288.

Retina December 2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

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Randa T. H. Li; Alejandro J. Roman; Alexander Sumaroka; Chloe M. Stanton; Malgorzata Swider; Alexandra V. Garafalo; Elise Heon; Ajoy Vincent; Alan F. Wright; Roly Megaw; Tomas S. Aleman; Andrew C. Browning; Baljean Dhillon; Artur V. Cideciyan
TAGS: gene editing, photoreceptors, retina, retinal degeneration, tissue degeneration, diagnostic imaging, retinal cone, fovea centralis, natural history, eye
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):33. https://doi.org/10.1167/iovs.64.15.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Six-month safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D (LCA1)

Christine Nichols Kay; Paul Yang; Artur V Cideciyan; Allen Ho; Andreas K Lauer; Shannon E Boye; Sanford L Boye; Alejandro J Roman; Vivian Wu; Alexandra V Garafalo; Alexander Sumaroka; Laura P Pardon; Dan Yoon; Kenji P Fujita; Samuel Jacobson

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1914.

ARVO Annual Meeting Abstract June 2023

Long durability of foveal cone vision improvement after single injections of sepofarsen confirmed in a second CEP290 -LCA eye

Artur V Cideciyan; Samuel Jacobson; Allen Ho; Malgorzata Swider; Alexander Sumaroka; Alejandro J Roman; Alexandra V Garafalo; Vivian Wu; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3833.

Retina January 2023

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

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Abraham A. Mascio; Alejandro J. Roman; Artur V. Cideciyan; Rebecca Sheplock; Vivian Wu; Alexandra V. Garafalo; Alexander Sumaroka; Sydney Pirkle; Susanne Kohl; Bernd Wissinger; Samuel G. Jacobson; John L. Barbur
TAGS: color, color perception, color vision, outcome measures, retinal cone, eye, c statistic
Trans. Vis. Sci. Tech.. 2023; 12(1):25. https://doi.org/10.1167/tvst.12.1.25

Includes: Supplemental Content

Retina December 2022

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

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Artur V. Cideciyan; Samuel G. Jacobson; Malgorzata Swider; Alexander Sumaroka; Rebecca Sheplock; Arun K. Krishnan; Alexandra V. Garafalo; Karina E. Guziewicz; Gustavo D. Aguirre; William A. Beltran; Elise Heon
TAGS: best1 gene, eye, mutation, photoreceptors, retina, retinal cone, rod photoreceptors, vitelliform dystrophy, fovea centralis, vision
Invest. Ophthalmol. Vis. Sci.. 2022; 63(13):12. https://doi.org/10.1167/iovs.63.13.12

ARVO Annual Meeting Abstract June 2020

Latency of the transient pupillary light reflex (TPLR): normalization by baseline diameter does not reduce variability

Arun kumar Krishnan; Samuel G Jacobson; Alejandro J Roman; Alexandra V Garafalo; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):778.

Retina June 2019

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

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Alexander Sumaroka; Alexandra V. Garafalo; Evelyn P. Semenov; Rebecca Sheplock; Arun K. Krishnan; Alejandro J. Roman; Samuel G. Jacobson; Artur V. Cideciyan
TAGS: artificial intelligence, leber's amaurosis, mutation, retina, retinal cone, vision, fovea centralis, perimetry, machine learning
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2551-2562. https://doi.org/10.1167/iovs.19-27156

Includes: Supplemental Content

Retina December 2018

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations

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Alexander Sumaroka; Alexandra V. Garafalo; Artur V. Cideciyan; Jason Charng; Alejandro J. Roman; Windy Choi; Supna Saxena; Valeryia Aksianiuk; Susanne Kohl; Bernd Wissinger; Samuel G. Jacobson
TAGS: genotype, missense mutation, mutation, retinal cone, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2018; 59(15):5762-5772. https://doi.org/10.1167/iovs.18-25280

Retina September 2018

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

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Artur V. Cideciyan; Jason Charng; Alejandro J. Roman; Rebecca Sheplock; Alexandra V. Garafalo; Elise Heon; Samuel G. Jacobson
TAGS: mutation, retinal cone, retinitis pigmentosa, rod photoreceptors, vision, x-linked inheritance, perimetry, gene therapy, visual fields
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4558-4566. https://doi.org/10.1167/iovs.18-24931

Includes: Supplemental Content

Retina July 2018

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations

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Alexandra V. Garafalo; Giacomo Calzetti; Artur V. Cideciyan; Alejandro J. Roman; Supna Saxena; Alexander Sumaroka; Windy Choi; Alan F. Wright; Samuel G. Jacobson
TAGS: mutation, retinal cone, syndrome, vision, visual fields
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3209-3219. https://doi.org/10.1167/iovs.18-24518

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

eyeGENE ® : a cross-cutting international inherited eye disease clinical research network

Santa J Tumminia; Delphine Blain; Remy C Cooper; Alexandra V Garafalo; Jemma Iano-Fletcher; Rebecca S Parrish; Melissa J Reeves; Annette Yim; Kerry E Goetz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1250.

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Fast and Slow Improvements in Rod sensitivity in LCA1 Patients Followed Over Three Years After Subretinal Gene Therapy

Quantitative Comparison of Two Physical Mobility Tests as Functions of FST and BCVA to Evaluate Therapeutic Benefit in LCA1 Patients Treated with Unilateral Gene Therapy

Recovery of Cone-Mediated Vision in a Severe Ciliopathy after Gene Augmentation: One Year Results of a Phase I/II Trial for LCA5 -LCA

Endogenous Levels of N -acetylcysteine in Human Plasma in the NAC Attack Study

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

AAV8- hLCA5 Subretinal Delivery to the Macula in LCA5 -associated Leber Congenital Amaurosis ( LCA5 -LCA): Preliminary Safety and Efficacy Results of an Ongoing Phase I/II Gene Therapy Trial

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Six-month safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D (LCA1)

Long durability of foveal cone vision improvement after single injections of sepofarsen confirmed in a second CEP290 -LCA eye

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

Latency of the transient pupillary light reflex (TPLR): normalization by baseline diameter does not reduce variability

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations

eyeGENE ® : a cross-cutting international inherited eye disease clinical research network

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