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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.

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

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

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. https://doi.org/10.1167/tvst.9.13.13

Includes: Supplemental Content

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 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

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.

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

Retina June 2017

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

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Jason Charng; Samuel G. Jacobson; Elise Heon; Alejandro J. Roman; David B. McGuigan, III; Rebecca Sheplock; Mychajlo S. Kosyk; Malgorzata Swider; Artur V. Cideciyan
TAGS: blindness, luminance, photoreceptors, pupil, reflex, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3215-3224. https://doi.org/10.1167/iovs.17-21909

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Artur V Cideciyan; Jason Charng; Samuel G Jacobson; Alexander Sumaroka; Sharon B. Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C. Peden; Hemant Khanna; Elise Heon; Alan F. Wright; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3232.

ARVO Annual Meeting Abstract June 2017

Human Melanopic Pupillary Responses Isolated from Outer Retinal Photoreceptor Input in LCA Patients with Severe Vision Loss

Jason Charng; Samuel G Jacobson; Elise Heon; Alejandro J Roman; David B. McGuigan; Rebecca Sheplock; Mychajlo S. Kosyk; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4135.

Retina May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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Samuel G. Jacobson; Artur V. Cideciyan; Alexander Sumaroka; Alejandro J. Roman; Jason Charng; Monica Lu; Windy Choi; Rebecca Sheplock; Malgorzata Swider; Mychajlo S. Kosyk; Sharon B. Schwartz; Edwin M. Stone; Gerald A. Fishman
TAGS: cohort studies, eye, genes, introns, leber's amaurosis, mutation, outcome measures, questionnaires, vision, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2609-2622. https://doi.org/10.1167/iovs.17-21560

Includes: Supplemental Content

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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

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

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

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

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

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

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

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

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Human Melanopic Pupillary Responses Isolated from Outer Retinal Photoreceptor Input in LCA Patients with Severe Vision Loss

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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