Genetics

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Articles August 2020

Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany

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Matthias Fritz Uhrmann; Birgit Lorenz; Christian Gissel
TAGS: cost effectiveness, germany, retinal degeneration, rpe65 protein, voretigene neparvovec, quality-adjusted life years
Trans. Vis. Sci. Tech.. 2020; 9(9):17. doi: https://doi.org/10.1167/tvst.9.9.17

Articles August 2020

Development of a Quantitative Immunoassay for Tear Lacritin Proteoforms

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Brooke M. Justis; Casey E. Coburn; Ethan M. Tyler; Ryan S. Showalter; Brianna J. Dissler; Melissa Li; Nancy A. McNamara; Gordon W. Laurie; Robert L. McKown
TAGS: antibodies, immunoassay, proteins, schirmer tear test procedure, protein measurement, total, western blotting, recovery of function, volume
Trans. Vis. Sci. Tech.. 2020; 9(9):13. doi: https://doi.org/10.1167/tvst.9.9.13

Articles August 2020

Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

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Matteo Di Marino; Massimo Cesareo; Gianluca Aloe; Carlo Nucci; Clarissa Giannini; Alessio Martucci; Francesco Aiello; Calogera Pisano; Giovanni Ruvolo; Raffaele Mancino
TAGS: marfan syndrome, retinal vasculature, vasculature
Trans. Vis. Sci. Tech.. 2020; 9(9):5. doi: https://doi.org/10.1167/tvst.9.9.5

Articles July 2020

Filamentous Fungal Keratitis in Taiwan: Based on Molecular Diagnosis

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Ning Hung; Lung-Kun Yeh; David Hui-Kang Ma; Hsin-Chiung Lin; Hsin-Yuan Tan; Hung-Chi Chen; Pei-Lun Sun; Ching-Hsi Hsiao
TAGS: fungal keratitis, molecular diagnostic techniques, taiwan, disease susceptibility
Trans. Vis. Sci. Tech.. 2020; 9(8):32. doi: https://doi.org/10.1167/tvst.9.8.32

New Developments in Vision Research July 2020

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene

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Francesca Sofia; Silvia Cerolini; Todd Durham
TAGS: blindness, family, genes, hereditary retinal dystrophy, mutation, natural history, gene therapy, retina, retinal dystrophies, disease progression
Trans. Vis. Sci. Tech.. 2020; 9(8):30. doi: https://doi.org/10.1167/tvst.9.8.30

Includes: Supplemental Content

Special Issue July 2020

Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network

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Jessica I. W. Morgan; Min Chen; Andrew M. Huang; Yu You Jiang; Robert F. Cooper
TAGS: choroideremia, convolutional neural networks, reliability, retinal cone
Trans. Vis. Sci. Tech.. 2020; 9(2):40. doi: https://doi.org/10.1167/tvst.9.2.40

Articles July 2020

Distinguishing Familial from Acquired Traits in the Retinal Blood Vessel Arborization

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Anne Bouthillier; Louis-Félix Berthiaume; Anne Xuan-Lan Nguyen; Shu Yi Zhai; Sarina Lalla; Olivier Bédard; Mathieu Gauvin; John M. Little; Pierre Lachapelle
TAGS: genetic pedigree, macula lutea, optic disk, retinal vessels, twins
Trans. Vis. Sci. Tech.. 2020; 9(8):27. doi: https://doi.org/10.1167/tvst.9.8.27

Editorial July 2020

The Elusive Nature of Truth in Scientific Studies and the Importance of Peer Review

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Marco Zarbin
TAGS: peer review, science
Trans. Vis. Sci. Tech.. 2020; 9(8):r. doi: https://doi.org/10.1167/tvst.9.8.r

Articles July 2020

Reduced Expression of VEGF-A in Human Retinal Pigment Epithelial Cells and Human Muller Cells Following CRISPR-Cas9 Ribonucleoprotein-Mediated Gene Disruption

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Hossein Ameri; Christopher Murat; Amirmohsen Arbabi; Wei Jiang; Srikanth R. Janga; Peter Zhifeng Qin; Sarah F. Hamm-Alvarez
TAGS: crispr-cas9, genes, radial retinal glial cell, vascular endothelial growth factor a, retinal pigment cell, ribonucleoproteins
Trans. Vis. Sci. Tech.. 2020; 9(8):23. doi: https://doi.org/10.1167/tvst.9.8.23

Includes: Supplemental Content

Articles July 2020

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

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Jian-Kang Li; Wei Li; Feng-Juan Gao; Shou-Fang Qu; Fang-Yuan Hu; Sheng-Hai Zhang; Li-Li Li; Zi-Wei Wang; Yong Qiu; Lu-Sheng Wang; Jie Huang; Ji-Hong Wu; Fang Chen
TAGS: cohort studies, dna, mitochondrial, exons, mutation, optic atrophy, hereditary, leber, optic nerve disorders, screening, optic atrophy, autosomal dominant
Trans. Vis. Sci. Tech.. 2020; 9(8):11. doi: https://doi.org/10.1167/tvst.9.8.11

Includes: Supplemental Content

Articles July 2020

Chromatic Pupilloperimetry Measures Correlate With Visual Acuity and Visual Field Defects in Retinitis Pigmentosa Patients

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Ifat Sher; Yisroel Tucker; Maya Gurevich; Amit Hamburg; Ettel Bubis; Jonathan Kfir; Shlomit Zorani; Estela Derazne; Alon Skaat; Ygal Rotenstreich
TAGS: blue light, cisplatin/methotrexate/vinblastine protocol, mean corpuscular volume analyses, merkel cell polyomavirus, pupil reaction, retinitis pigmentosa, scotoma, visual acuity, spectral domain-optical coherence tomography, perimetry
Trans. Vis. Sci. Tech.. 2020; 9(8):10. doi: https://doi.org/10.1167/tvst.9.8.10

Includes: Supplemental Content

Articles July 2020

Benzalkonium Chloride Resistance in Staphylococcus epidermidis on the Ocular Surface of Glaucoma Patients Under Long-Term Administration of Eye Drops

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Jinhee Lee; Takuya Iwasaki; Shinichiro Ohtani; Hidehito Matsui; Ryohei Nejima; Yosai Mori; Fumie Kagaya; Akiko Yagi; Akiko Yoshimura; Hideaki Hanaki; Makoto Aihara; Kazunori Miyata
TAGS: bacterial artificial chromosomes, benzalkonium chloride, blood alcohol concentration, bronchioloalveolar carcinoma, eyedrops, genes, glaucoma, staphylococcus epidermidis, polymerase chain reaction
Trans. Vis. Sci. Tech.. 2020; 9(8):9. doi: https://doi.org/10.1167/tvst.9.8.9

Includes: Supplemental Content

Articles July 2020

Lamivudine Inhibits Alu RNA-induced Retinal Pigment Epithelium Degeneration via Anti-inflammatory and Anti-senescence Activities

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Kazuhisa Yamada; Hiroki Kaneko; Hideyuki Shimizu; Ayana Suzumura; Rina Namba; Kei Takayama; Seina Ito; Masataka Sugimoto; Hiroko Terasaki
TAGS: aging, rna, tissue degeneration, lamivudine, interleukin-18, retinal pigment cell, anti-inflammatory agents, retinal pigment epithelium
Trans. Vis. Sci. Tech.. 2020; 9(8):1. doi: https://doi.org/10.1167/tvst.9.8.1

Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

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Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. doi: https://doi.org/10.1167/tvst.9.7.47

Includes: Supplemental Content

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

Characterization of Uveal Melanoma Cell Lines and Primary Tumor Samples in 3D Culture

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Karen Aughton; Haleh Shahidipour; Luna Djirackor; Sarah E. Coupland; Helen Kalirai
TAGS: cell lines, intraocular melanoma, neoplasms, spheroids, cellular
Trans. Vis. Sci. Tech.. 2020; 9(7):39. doi: https://doi.org/10.1167/tvst.9.7.39

Includes: Supplemental Content

Articles June 2020

Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease

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Maria Vittoria Cicinelli; Alessandro Rabiolo; Maria Brambati; Chiara Viganò; Francesco Bandello; Maurizio Battaglia Parodi
TAGS: atrophy, stargardt's disease, pigment, epithelium, hypertrophy
Trans. Vis. Sci. Tech.. 2020; 9(7):33. doi: https://doi.org/10.1167/tvst.9.7.33

Includes: Supplemental Content

Articles June 2020

An In Vitro Bovine Cellular Model for Human Schlemm's Canal Endothelial Cells and Their Response to TGFβ Treatment

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Jingwen Cai; Kristin Perkumas; W. Daniel Stamer; Yutao Liu
TAGS: cattle, endothelial cells, genes, glaucoma, schlemm's canal, puromycin
Trans. Vis. Sci. Tech.. 2020; 9(7):32. doi: https://doi.org/10.1167/tvst.9.7.32

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

Articles June 2020

Risks and Challenges in Interpreting Simultaneous Analyses of Multiple Cytokines

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Isabel B. Pfister; Souska Zandi; Christin Gerhardt; Jan Spindler; Natalie Reichen; Justus G. Garweg
TAGS: cytokine, oprl1 gene
Trans. Vis. Sci. Tech.. 2020; 9(7):27. doi: https://doi.org/10.1167/tvst.9.7.27

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Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany

Development of a Quantitative Immunoassay for Tear Lacritin Proteoforms

Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

Filamentous Fungal Keratitis in Taiwan: Based on Molecular Diagnosis

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene

Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network

Distinguishing Familial from Acquired Traits in the Retinal Blood Vessel Arborization

The Elusive Nature of Truth in Scientific Studies and the Importance of Peer Review

Reduced Expression of VEGF-A in Human Retinal Pigment Epithelial Cells and Human Muller Cells Following CRISPR-Cas9 Ribonucleoprotein-Mediated Gene Disruption

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

Chromatic Pupilloperimetry Measures Correlate With Visual Acuity and Visual Field Defects in Retinitis Pigmentosa Patients

Benzalkonium Chloride Resistance in Staphylococcus epidermidis on the Ocular Surface of Glaucoma Patients Under Long-Term Administration of Eye Drops

Lamivudine Inhibits Alu RNA-induced Retinal Pigment Epithelium Degeneration via Anti-inflammatory and Anti-senescence Activities

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

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

Characterization of Uveal Melanoma Cell Lines and Primary Tumor Samples in 3D Culture

Factors Influencing Retinal Pigment Epithelium-Atrophy Progression Rate in Stargardt Disease

An In Vitro Bovine Cellular Model for Human Schlemm's Canal Endothelial Cells and Their Response to TGFβ Treatment

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

Risks and Challenges in Interpreting Simultaneous Analyses of Multiple Cytokines

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