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Meeting Abstract (7)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (11)

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ARVO Annual Meeting Abstract (7)
Retina (4)

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Eye Anatomy and Disorders (4)
Genetics (4)
Retina (4)
Low Vision (1)

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mutation (4)
retinal cone (4)
vision (3)
perimetry (2)
visual fields (2)
artificial intelligence (1)
cohort studies (1)
fovea centralis (1)
gene therapy (1)
genotype (1)

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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:

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

ARVO Annual Meeting Abstract September 2016

Segregation analysis revealed causative mutations in an Oculocutaneous Albinism (OCA) patient

Xinjing Wang; Jackson Gao; Keith Wetherby; CHIMERE ROBERSON; MELISSA REEVES; ALEXANDRA GARAFALO; REBECCA PARRISH; ANNETTE YIM

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6581. doi:

ARVO Annual Meeting Abstract June 2015

eyeGENE ® : a cross-cutting international inherited eye disease clinical research network

Santa J Tumminia; Delphine Blain; Remy C Cooper; Alexandra V Garafalo; Jemma Iano-Fletcher; Rebecca S Parrish; Melissa J Reeves; Annette Yim; Kerry E Goetz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1250. doi:

ARVO Annual Meeting Abstract April 2014

High-throughtput NGS of 60 Genes Involved in Inherited Corneal Disorders

Xinjing Wang; Danyao Nie; Angela Turner; Keith Wetherby; Kerry Gotez; Alexandra Garafalo; Rebecca Parrish; Santa J Tumminia; Kory Johnson; Yang Fann

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1023. doi:

ARVO Annual Meeting Abstract April 2014

RGR gene mutation causative of peripapillary choroidal atrophy

Monique J Leys; Angela Turner; Hong He; MaryBeth Hummel; Alexandra Garafalo; Rebecca Parrish; Nora Morris; Santa J Tumminia; Xinjing Wang

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1242. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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