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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

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

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

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:

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

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

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

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. doi: 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. doi: 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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.17-21560

Includes: Supplemental Content

Visual Neuroscience February 2017

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

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Geoffrey K. Aguirre; Omar H. Butt; Ritobrato Datta; Alejandro J. Roman; Alexander Sumaroka; Sharon B. Schwartz; Artur V. Cideciyan; Samuel G. Jacobson
TAGS: blindness, functional magnetic resonance imaging, genes, mutation, photoreceptors, primary visual cortex, vision, white matter, blood oxygen level dependent, retina
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):959-973. doi: https://doi.org/10.1167/iovs.16-20413

ARVO Annual Meeting Abstract September 2016

Comparative Measurements of Rod Function in Retinal Degenerations with Two-color Dark-adapted Perimetry

Artur V Cideciyan; Jason Charng; Malgorzata Swider; Rebecca Sheplock; David B McGuigan; Rodrigo Matsui; Alejandro J Roman; Sharon B Schwartz; Samuel G Jacobson

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):131. doi:

ARVO Annual Meeting Abstract September 2016

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Jason Charng; Malgorzata Swider; Rebecca Sheplock; Alexander Sumaroka; Alejandro J Roman; Marc Christopher Peden; Elise Heon; Sharon B Schwartz; Samuel G Jacobson; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):156. doi:

Retina September 2016

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

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Samuel G. Jacobson; David B. McGuigan, III; Alexander Sumaroka; Alejandro J. Roman; Michaela L. Gruzensky; Rebecca Sheplock; Judy Palma; Sharon B. Schwartz; Tomas S. Aleman; Artur V. Cideciyan
TAGS: family, mutation, pathophysiology, phenotype, retina, retinitis pigmentosa, rhodopsin, rod photoreceptors, retinal cone, visual fields
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4847-4858. doi: https://doi.org/10.1167/iovs.16-19890

Retina June 2016

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

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Artur V. Cideciyan; Alejandro J. Roman; Samuel G. Jacobson; Boyuan Yan; Michele Pascolini; Jason Charng; Simone Pajaro; Sheila Nirenberg

Invest. Ophthalmol. Vis. Sci.. 2016; 57(7):3211-3221. doi: https://doi.org/10.1167/iovs.16-19586

Retina June 2016

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials

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David B. McGuigan, III; Alejandro J. Roman; Artur V. Cideciyan; Rodrigo Matsui; Michaela L. Gruzensky; Rebecca Sheplock; Samuel G. Jacobson
TAGS: perimetry, retinal cone, retinitis pigmentosa, rod photoreceptors, visual fields
Invest. Ophthalmol. Vis. Sci.. 2016; 57(7):3118-3128. doi: https://doi.org/10.1167/iovs.16-19302

Includes: Supplemental Content

Retina September 2015

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

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Rodrigo Matsui; Artur V. Cideciyan; Sharon B. Schwartz; Alexander Sumaroka; Alejandro J. Roman; Malgorzata Swider; Wei Chieh Huang; Rebecca Sheplock; Samuel G. Jacobson
TAGS: cohort studies, heterogeneity, pathophysiology, retinal degeneration, rod photoreceptors, scotoma, vision, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2015; 56(10):6007-6018. doi: https://doi.org/10.1167/iovs.15-17174

Includes: Supplemental Content

Retina January 2015

Pseudo-Fovea Formation After Gene Therapy for RPE65 -LCA

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Artur V. Cideciyan; Geoffrey K. Aguirre; Samuel G. Jacobson; Omar H. Butt; Sharon B. Schwartz; Malgorzata Swider; Alejandro J. Roman; Sam Sadigh; William W. Hauswirth
TAGS: eye, fovea centralis, gene therapy, pathologic nystagmus, retina
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):526-537. doi: https://doi.org/10.1167/iovs.14-15895

Includes: Multimedia, Supplemental Content

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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

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

Comparative Measurements of Rod Function in Retinal Degenerations with Two-color Dark-adapted Perimetry

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

Pseudo-Fovea Formation After Gene Therapy for RPE65 -LCA

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