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Retina June 2025

Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes

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Abraham Hang; Andy Shao; Michael Shea; Michel J. Roux; Denise M. Imai-Leonard; David J. Adams; Takanori Amano; Oana V. Amarie; Zorana Berberovic; Raphaël Bour; Lynette Bower; Brian C. Leonard; Steve D. Brown; Soo Young Cho; Sharon Clementson-Mobbs; Abigail J. D'Souza; Mary Dickinson; Mohammad Eskandarian; Ann M. Flenniken; Helmut Fuchs; Valerie Gailus-Durner; Jason Heaney; Yann Hérault; Martin Hrabe de Angelis; Chih-Wei Hsu; Shundan Jin; Russell Joynson; Yeon Kyung Kang; Haerim Kim; Hiroshi Masuya; Ki-Hoan Nam; Hyuna Noh; Lauryl M. J. Nutter; Marcela Palkova; Jan Prochazka; Miles Joseph Raishbrook; Fabrice Riet; Jason Salazar; John Richard Seavitt; Radislav Sedlacek; Mohammed Selloum; Kyoung Yul Seo; Je Kyung Seong; Hae-Sol Shin; Toshihiko Shiroishi; Tania Sorg; Michelle Stewart; Masaru Tamura; Heather Tolentino; Uchechukwu Udensi; Sara Wells; Wolfgang Wurst; Atsushi Yoshiki; Hamid Meziane; Glenn C. Yiu; Paul A. Sieving; Louise Lanoue; K C. Kent Lloyd; Colin McKerlie; Ala Moshiri; for the International Mouse Phenotyping Consortium (IMPC)
TAGS: adult, genes, mice, mice, knockout, phenotype, phenotype determination
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):64. https://doi.org/10.1167/iovs.66.6.64

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM

Kim Carlyle Worley; Ma'ayan Mero; William Hankey; Lonneke Haer-Wigman; Hafiz Muhammad Jafar Hussain; Kristy Lee; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Richard A Lewis; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):453.

Retina April 2024

Statistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations

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Antonello Fadda; Francesco Martelli; Wadih M. Zein; Brett Jeffrey; Giorgio Placidi; Paul A. Sieving; Benedetto Falsini
TAGS: electroretinography, noise, retinal degeneration, artifacts
Invest. Ophthalmol. Vis. Sci.. 2024; 65(4):3. https://doi.org/10.1167/iovs.65.4.3

ARVO Annual Meeting Abstract June 2023

Rs1 -/Y rat exon-1-del rat model of X-linked retinoschisis shows INL cellular irregularities and ILM barrier breaks

Serafina Thomas; Zeljka Smit-McBride; Ning Sun; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):422.

ARVO Annual Meeting Abstract June 2023

Aquaporin-4 and Kir4.1 channels in post-natal pathology of retinoschisis in Rs1 exon-1 del rat

Zeljka Smit-McBride; Serafina Rose Thomas; Ning Sun; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4459.

Retina January 2023

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis

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Tzu-Ni Sin; Sangbae Kim; Yumei Li; Jun Wang; Rui Chen; Sook Hyun Chung; Soohyun Kim; M. Isabel Casanova; Sangwan Park; Zeljka Smit-McBride; Ning Sun; Ori Pomerantz; Jeffrey A. Roberts; Bin Guan; Robert B. Hufnagel; Ala Moshiri; Sara M. Thomasy; Paul A. Sieving; Glenn Yiu
TAGS: myopic foveoschisis, primates, genes, macaca mulatta, photoreceptors, diagnostic imaging, eye, cell nucleus, proteins, immunohistochemistry
Invest. Ophthalmol. Vis. Sci.. 2023; 64(1):18. https://doi.org/10.1167/iovs.64.1.18

Includes: Supplemental Content

Retinal Cell Biology October 2022

Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors

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Camasamudram Vijayasarathy; Yong Zeng; Dario Marangoni; Lijin Dong; Zhuo-Hua Pan; Elizabeth M. Simpson; Robert N. Fariss; Paul A. Sieving
TAGS: cysts, mice, photoreceptors, retina, retinal bipolar cells, retinoschisis, spatial vectors
Invest. Ophthalmol. Vis. Sci.. 2022; 63(11):8. https://doi.org/10.1167/iovs.63.11.8

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Effects of Human CD34+ Stem Cells and Exosomes from Mesenchymal Stem Cells on Angiogenesis: In vitro Analysis

Un Chul Park; Zeljka Smit-McBride; Ning Sun; Ping Zhou; Johnathon Anderson; Jan A Nolta; Paul A Sieving; Susanna S Park

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):313 – F0116.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

ARVO Annual Meeting Abstract June 2022

A spontaneous nonhuman primate model of myopic foveoschisis.

Tzu-Ni Sin; Sangbae Kim; Yumei Li; Rui Chen; Sook Hyun Chung; Soohyun Kim; Isabel Casanova; Sangwan Park; Ori Pomerantz; Jeffrey Roberts; Sara M Thomasy; Ala Moshiri; Robert B. Hufnagel; Paul A Sieving; Glenn Yiu

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3754 – F0175.

ARVO Annual Meeting Abstract June 2022

Light-induced retinal degeneration in immunodeficient mice.

Cristy Ann Ku; Un Chul Park; Paul A Sieving; Susanna S Park

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4140 – F0377.

ARVO Annual Meeting Abstract June 2021

Evaluation of founder effect burden on recurrent variants in X-linked retinoschisis

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

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1576.

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. 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. 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.

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. 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. https://doi.org/10.1167/iovs.19-27242

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.

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.

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.

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Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes

ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM

Statistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations

Rs1 -/Y rat exon-1-del rat model of X-linked retinoschisis shows INL cellular irregularities and ILM barrier breaks

Aquaporin-4 and Kir4.1 channels in post-natal pathology of retinoschisis in Rs1 exon-1 del rat

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis

Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors

Effects of Human CD34+ Stem Cells and Exosomes from Mesenchymal Stem Cells on Angiogenesis: In vitro Analysis

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

A spontaneous nonhuman primate model of myopic foveoschisis.

Light-induced retinal degeneration in immunodeficient mice.

Evaluation of founder effect burden on recurrent variants in X-linked retinoschisis

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

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.

Progressive asymptomatic choroidal neovascularization in late-onset retinal degeneration

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