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Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. doi: https://doi.org/10.1167/iovs.62.15.26

Articles September 2021

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

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Arun K. Krishnan; Alejandro J. Roman; Malgorzata Swider; Samuel G. Jacobson; Artur V. Cideciyan
TAGS: retinitis pigmentosa, rod photoreceptors, dynamic range
Trans. Vis. Sci. Tech.. 2021; 10(11):3. doi: https://doi.org/10.1167/tvst.10.11.3

ARVO Annual Meeting Abstract June 2021

Macular rod function in retinitis pigmentosa (RP): Comparison of scotopic microperimeter to modified Humphrey field analyzer

Arun kumar Krishnan; Alejandro Roman; Malgorzata Swider; Samuel G Jacobson; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3545. doi:

ARVO Annual Meeting Abstract June 2021

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Stubbe; Jacque L Duncan; Helene Dollfus; Andrea L Vincent; Tomas S Aleman; Bart Leroy; Jason Maynes; Francis Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3284. doi:

ARVO Annual Meeting Abstract June 2021

Safety and efficacy of sepofarsen in the second treated eye in a Ph1b/2 extension trial in Leber Congenital Amaurosis type 10 (LCA10)

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G Jacobson; Bart Leroy; Allen Ho; Caroline Van Cauwenbergh; Arun kumar Krishnan; Wilhelmina R. den Hollender; Adriana Hollestein-Havelaar; Mike Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3317. doi:

Articles December 2020

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

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Evelyn P. Semenov; Rebecca Sheplock; Alejandro J. Roman; David B. McGuigan; Malgorzata Swider; Artur V. Cideciyan; Samuel G. Jacobson

Trans. Vis. Sci. Tech.. 2020; 9(13):13. doi: https://doi.org/10.1167/tvst.9.13.13

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Alterations in RPGR isoform levels play a critical role in X-Linked Retinitis Pigmentosa pathogenesis

Laura Moreno Leon; Linjin Li; Emma L West; Michelle O’Hara-Wright; Alexander J Smith; Robin R Ali; Samuel G Jacobson; Artur V Cideciyan; Hemant Khanna

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1955. doi:

ARVO Annual Meeting Abstract June 2020

A newly recognized canine phenotype of early-onset retinal degeneration

Karina E Guziewicz; Valerie Dufour; Lauren Lew; Brian Thomas Kendrick; Ana Ripolles Garcia; William A Beltran; Artur V Cideciyan; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2792. doi:

ARVO Annual Meeting Abstract June 2020

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463. doi:

ARVO Annual Meeting Abstract June 2020

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G Jacobson; Bart Peter Leroy; Wanda L. Pfeifer; Alina V. Dumitrescu; Alexandra V. Garafolo; Allen C. Ho; Caroline Van Cauwenbergh; Julie De Zaeytijd; Aniz Girach; Wil den Hollander; Mike Schwartz; David M. Rodman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):866. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

Arun kumar Krishnan; Jason Charng; Samuel G Jacobson; Alejandro J Roman; Alexandra Garafalo; Alexander Sumaroka; Malgorzata Swider; Evelyn Semenov; Rebecca Sheplock; Elise Heon; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1833. doi:

ARVO Annual Meeting Abstract July 2019

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Artur V Cideciyan; Samuel G Jacobson; Arlene V Drack; Allen C Ho; Alexandra Garafalo; Alejandro J Roman; Mike Schwartz; Patricia Biasutto; Wilma de Wit; Michael E Cheetham; Peter S Adamson; David Rodman; Julie De Zaeytijd; Caroline Van Cauwenbergh; Bart P Leroy; Stephen R Russell

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1834. doi:

ARVO Annual Meeting Abstract July 2019

Safety and long-term efficacy of AAV2- BEST1 gene augmentation therapy in canine model of Best vitelliform macular dystrophies

Karina E Guziewicz; Artur V Cideciyan; Brian T. Kendrick; Valerie L Dufour; Gordon Ruthel; Andras M Komaromy; Simone Iwabe; William Hauswirth; William A Beltran; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5200. doi:

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. doi: https://doi.org/10.1167/iovs.19-27156

Includes: Supplemental Content

Lecture April 2019

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision

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Artur V. Cideciyan; Samuel G. Jacobson
TAGS: leber's amaurosis, photoreceptors, vision, retinal cone, rod photoreceptors, eye
Invest. Ophthalmol. Vis. Sci.. 2019; 60(5):1680-1695. doi: https://doi.org/10.1167/iovs.19-26672

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. doi: https://doi.org/10.1167/iovs.18-25280

New Developments in Vision Research September 2018

Translational Retinal Research and Therapies

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Alison J. Hardcastle; Paul A. Sieving; José-Alain Sahel; Samuel G. Jacobson; Artur V. Cideciyan; John G. Flannery; William A. Beltran; Gustavo D. Aguirre
TAGS: gene therapy, genes, mutation, optogenetics, photoreceptors, proteins, retina, retinal cone, retinitis pigmentosa, rhodopsin
Trans. Vis. Sci. Tech.. 2018; 7(5):8. doi: https://doi.org/10.1167/tvst.7.5.8

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. doi: https://doi.org/10.1167/iovs.18-24931

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

From observations in the retina clinic to insights into pathophysiology

Samuel G Jacobson

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):339. doi:

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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

Macular rod function in retinitis pigmentosa (RP): Comparison of scotopic microperimeter to modified Humphrey field analyzer

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Safety and efficacy of sepofarsen in the second treated eye in a Ph1b/2 extension trial in Leber Congenital Amaurosis type 10 (LCA10)

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

Alterations in RPGR isoform levels play a critical role in X-Linked Retinitis Pigmentosa pathogenesis

A newly recognized canine phenotype of early-onset retinal degeneration

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

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

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Safety and long-term efficacy of AAV2- BEST1 gene augmentation therapy in canine model of Best vitelliform macular dystrophies

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

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision

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

Translational Retinal Research and Therapies

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

From observations in the retina clinic to insights into pathophysiology

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