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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

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 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

ARVO Annual Meeting Abstract July 2018

A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 ( GUCA1A ) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

Igor V Peshenko; Artur V Cideciyan; Alexander Sumaroka; Elena V Olshevskaya; Alexander Scholten; Maximilian Flick; Karl-Wilhelm Koch; Samuel G Jacobson; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4488.

ARVO Annual Meeting Abstract July 2018

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Karina E Guziewicz; Artur V Cideciyan; William A Beltran; Andras M Komaromy; Valerie Dufour; Malgorzata Swider; Simone Iwabe; Alexander Sumaroka; Brian T Kendrick; Gordon Ruthel; Vince A Chiodo; Elise Heon; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4522.

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 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.

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

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. https://doi.org/10.1167/iovs.16-20413

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.

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. https://doi.org/10.1167/iovs.16-19890

Articles July 2016

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations

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Alexander Sumaroka; Rodrigo Matsui; Artur V. Cideciyan; David B. McGuigan, III; Rebecca Sheplock; Sharon B. Schwartz; Samuel G. Jacobson
TAGS: mutation, optical coherence tomography, retina, usher syndrome, vision, rod photoreceptors, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2016; 57(9):OCT253-OCT261. https://doi.org/10.1167/iovs.15-18860

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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

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

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

A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 ( GUCA1A ) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

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

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

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

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

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations

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