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ARVO Annual Meeting Abstract June 2024

Defining the late-onset retinal degeneration (L-ORD) phenotype: novel findings in clinical characterisation

Randa Li; Chloe M Stanton; Roly Megaw; Alan F Wright; Andrew C Browning; Artur V Cideciyan; Samuel G Jacobson; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5396.

ARVO Annual Meeting Abstract June 2023

Characterization of five potential phenotype-modifying variants in DHDDS K42E patients

Elisha Monson; Samuel G. Jacobson; Mai N Nguyen; Steven Jay Fliesler; Steven J Pittler

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1531.

ARVO Annual Meeting Abstract June 2023

Drug screening in iPSC-derived retinal organoids identifies reserpine to maintain photoreceptor survival through restoration of proteostasis

Holly Chen; Manju Swaroop; Samantha Papal; Anupam Kumar Mondal; Hyun Beom Song; Laura Campello; Gregory Tawa; Florian Regent; Samuel G. Jacobson; Wei Zheng; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3168.

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 2022

Long-term follow up of gene therapy for NPHP5 -LCA in a canine model shows restoration of photoreceptor function and vision for > 5 years

William A Beltran; Artur V Cideciyan; Ana Ripolles-Garcia; Valerie L Dufour; Yu Sato; Alexa Gray; Malgorzata Swider; Sanford L Boye; William W Hauswirth; Samuel G. Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):454.

ARVO Annual Meeting Abstract June 2022

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G. Jacobson; Bart P Leroy; Caroline Van Cauwenbergh; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):453.

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. 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. 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.

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.

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.

Articles December 2020

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

PDF

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. 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.

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.

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.

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.

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.

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.

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.

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Defining the late-onset retinal degeneration (L-ORD) phenotype: novel findings in clinical characterisation

Characterization of five potential phenotype-modifying variants in DHDDS K42E patients

Drug screening in iPSC-derived retinal organoids identifies reserpine to maintain photoreceptor survival through restoration of proteostasis

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

Long-term follow up of gene therapy for NPHP5 -LCA in a canine model shows restoration of photoreceptor function and vision for > 5 years

Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290 -associated Leber congenital amaurosis (LCA10)

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.

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

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

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

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