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New Developments in Vision Research June 2020

NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future

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Charles Wright; Anna E. Mazzucco; Steven M. Becker; Paul A. Sieving; Santa J. Tumminia
TAGS: age-related macular degeneration, genetics, biological markers, community, disease progression, research personnel, datasets
Trans. Vis. Sci. Tech.. 2020; 9(7):49. doi: https://doi.org/10.1167/tvst.9.7.49

Articles June 2020

Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration

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Hongman Song; Yong Zeng; Sheik Pran Babu Sardar Pasha; Ronald A. Bush; Camasamudram Vijayasarathy; Haohua Qian; Lisa Wei; Henry E. Wiley; Zhijian Wu; Paul A. Sieving
TAGS: eye, retina, spatial vectors, transfer technique, oryctolagus cuniculus, mice, fibroblast growth factor 2, intravitreal injections
Trans. Vis. Sci. Tech.. 2020; 9(7):28. doi: https://doi.org/10.1167/tvst.9.7.28

ARVO Annual Meeting Abstract June 2020

Haplotype characterization of a large X-linked retinoschisis cohort

Chelsea Bender; Ehsan Ullah; Amy Turriff; Santa Tumminia; Paul A Sieving; Catherine A Cukras; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2395. doi:

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. doi: https://doi.org/10.1167/tvst.9.7.2

Retina August 2019

Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions

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Ronald A. Bush; Atsuhiro Tanikawa; Yong Zeng; Paul A. Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3680-3688. doi: https://doi.org/10.1167/iovs.19-27242

ARVO Annual Meeting Abstract July 2019

Progressive asymptomatic choroidal neovascularization in late-onset retinal degeneration

Catherine A Cukras; Tiarnan D L Keenan; Wai T Wong; Denise Cunningham; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4487. doi:

ARVO Annual Meeting Abstract July 2019

Spatial Variation of Rod-Mediated Function in Late-Onset Retinal Degeneration (L-ORD)

Brett G Jeffrey; Laryssa Huryn; Paul A Sieving; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4495. doi:

ARVO Annual Meeting Abstract July 2019

The role of constitutively active RAC1 in rod out segment formation in mouse rhodopsin-null rods

Hongman Song; Yong Zeng; Ronald A Bush; Ronald S Petralia; Ya Xian Wang; Robert N Fariss; Camasamudram Vijaysarathy; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):570. doi:

ARVO Annual Meeting Abstract July 2019

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872. doi:

ARVO Annual Meeting Abstract July 2019

Immuno-phenotyping of X-linked retinoschisis (XLRS) subjects in a Phase I/IIa AAV8-RS1 gene therapy clinical trial reveals baseline differences in systemic immune cell proportions but minimal further changes after vector administration.

Alaknanda Mishra; Camasamudram Vijaysarathy; Rafael Villasmil; Henry Wiley; Yong Zeng; Julie Laux; Benjamin Chaigne-Delalande; Lisa Wei; H Nida Sen; Catherine A Cukras; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5196. doi:

ARVO Annual Meeting Abstract July 2019

Multimodal genomic analysis of hydroxychloroquine toxicity in a large cohort

Ehsan Ullah; David McGaughey; Amy Turriff; Paul A Sieving; Robert B Hufnagel; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6054. doi:

New Developments in Vision Research September 2018

Translational Retinal Research and Therapies

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Alison J. Hardcastle; Paul A. Sieving; José-Alain Sahel; Samuel G. Jacobson; Artur V. Cideciyan; John G. Flannery; William A. Beltran; Gustavo D. Aguirre
TAGS: gene therapy, genes, mutation, optogenetics, photoreceptors, proteins, retina, retinal cone, retinitis pigmentosa, rhodopsin
Trans. Vis. Sci. Tech.. 2018; 7(5):8. doi: https://doi.org/10.1167/tvst.7.5.8

Retina June 2018

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis

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Catherine A. Cukras; Laryssa A. Huryn; Brett G. Jeffrey; Amy Turriff; Paul A. Sieving
TAGS: electroretinography, eye, functional measures, natural history, visual acuity, x-linked retinoschisis, electrophysiology, follow-up
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):2841-2847. doi: https://doi.org/10.1167/iovs.17-23297

Includes: Supplemental Content

Retina April 2018

Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity

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Ali M. Allahdina; Paul F. Stetson; Susan Vitale; Wai T. Wong; Emily Y. Chew; Fredrick L. Ferris III; Paul A. Sieving; Catherine Cukras

Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1953-1963. doi: https://doi.org/10.1167/iovs.17-22668

ARVO Annual Meeting Abstract June 2017

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Kari E Branham; Pooja Biswas; Luis Alexandre Rassi Gabriel; Angel Soto-Hermida; Hiroko Matsui; Amalio Telenti; Kelly A Frazer; John R Heckenlively; Paul A Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2754. doi:

ARVO Annual Meeting Abstract June 2017

Analysis of Secretory Lipidomics and Proteomics of Late-Onset Retinal Degeneration iPSC-derived RPE

Kiyoharu J Miyagishima; Ruchi Sharma; Katharina Clore-Gronenborn; Zoya Qureshy; Bokkyoo Jun; William C Gordon; Nathan Hotaling; Congxiao Zhang; Catherine A Cukras; Paul A Sieving; Nicolas Guillermo Bazan; Sheldon S Miller; Kapil Bharti

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3019. doi:

ARVO Annual Meeting Abstract June 2017

Cycle-by-Cycle Electroretinography: Utilizing a Widely-Available Instrument to Assess Microvolt Signals in Usher Syndrome

Wadih M Zein; Antonello Fadda; Brett G Jeffrey; Robert B Hufnagel; Amy Turriff; Ramiro Maldonado; Brian Patrick Brooks; Benedetto Falsini; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4278. doi:

ARVO Annual Meeting Abstract June 2017

Bench to Bedside (and back): How basic research instructs clinical practice and vice versa – Gene Therapy for X-Linked Retinoschisis

Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4769. doi:

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: family, homozygote, retinal dystrophies, autosomal recessive inheritance, mutation, genetic analysis, genes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: https://doi.org/10.1167/iovs.17-21424

Includes: Supplemental Content

Retina March 2017

Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome

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Dario Marangoni; Zeng Yong; Sten Kjellström; Camasamudram Vijayasarathy; Paul A. Sieving; Ronald A. Bush
TAGS: gene therapy, light intensity, mice, x-linked retinoschisis, electroretinography, pathology
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1656-1664. doi: https://doi.org/10.1167/iovs.16-21016

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NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future

Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration

Haplotype characterization of a large X-linked retinoschisis cohort

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions

Progressive asymptomatic choroidal neovascularization in late-onset retinal degeneration

Spatial Variation of Rod-Mediated Function in Late-Onset Retinal Degeneration (L-ORD)

The role of constitutively active RAC1 in rod out segment formation in mouse rhodopsin-null rods

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Immuno-phenotyping of X-linked retinoschisis (XLRS) subjects in a Phase I/IIa AAV8-RS1 gene therapy clinical trial reveals baseline differences in systemic immune cell proportions but minimal further changes after vector administration.

Multimodal genomic analysis of hydroxychloroquine toxicity in a large cohort

Translational Retinal Research and Therapies

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis

Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Analysis of Secretory Lipidomics and Proteomics of Late-Onset Retinal Degeneration iPSC-derived RPE

Cycle-by-Cycle Electroretinography: Utilizing a Widely-Available Instrument to Assess Microvolt Signals in Usher Syndrome

Bench to Bedside (and back): How basic research instructs clinical practice and vice versa – Gene Therapy for X-Linked Retinoschisis

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome

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