Genetics

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Research Opportunities October 2024

Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

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Radha Ayyagari; Shyamanga Borooah; Todd Durham; Claire Gelfman; Angela Bowman
TAGS: genes, mutation, retinal diseases, blindness, vision
Trans. Vis. Sci. Tech.. 2024; 13(10):16. https://doi.org/10.1167/tvst.13.10.16

Letters to the Editor September 2024

Neurofilament Isoform Promoter-Driven Expression of Therapeutic Genes

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Axel Petzold
TAGS: genes, protein isoforms
Trans. Vis. Sci. Tech.. 2024; 13(9):30. https://doi.org/10.1167/tvst.13.9.30

Retina September 2024

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia

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Laura J. Taylor; Amandeep S. Josan; Daniel Adeyoju; Jasleen K. Jolly; Robert E. MacLaren
TAGS: choroideremia, outcome measures, rod photoreceptors, volume
Trans. Vis. Sci. Tech.. 2024; 13(9):29. https://doi.org/10.1167/tvst.13.9.29

Includes: Supplemental Content

Neuro-ophthalmology September 2024

Pharmacological Activation and Transgenic Overexpression of SIRT1 Attenuate Traumatic Optic Neuropathy Induced by Blunt Head Impact

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Alex Kwok; Brahim Chaqour; Reas S. Khan; Puya Aravand; Kimberly Dine; Ahmara G. Ross; Kenneth S. Shindler
TAGS: mice, traumatic brain injuries, protein overexpression, optic nerve injuries, attenuation, pharmacology, vision
Trans. Vis. Sci. Tech.. 2024; 13(9):27. https://doi.org/10.1167/tvst.13.9.27

Retina September 2024

Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy

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Evita Evangelia Christou; Amandeep S. Josan; Jasmina Cehajic-Kapetanovic; Robert E. MacLaren
TAGS: gene therapy, retinitis pigmentosa, surrogate endpoints
Trans. Vis. Sci. Tech.. 2024; 13(9):18. https://doi.org/10.1167/tvst.13.9.18

Cornea & External Disease September 2024

Causal Association Between Atopic Dermatitis and Keratoconus: A Mendelian Randomization Study

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Yuan Chang; Tianze Huang; Shan Yang; Ying Li; Di Chen
TAGS: atopic dermatitis, keratoconus, mendelian randomization analysis, genome-wide association study, datasets
Trans. Vis. Sci. Tech.. 2024; 13(9):13. https://doi.org/10.1167/tvst.13.9.13

Includes: Supplemental Content

Public Health September 2024

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

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Agnes C. Owete; Raisa Ionin; Laryssa A. Huryn; Catherine A. Cukras; Delphine Blain; Aime R. Agather; Robert B. Hufnagel; Brian P. Brooks; Kristen Nwanyanwu; Wadih M. Zein
TAGS: african american, color, eye diseases, hereditary
Trans. Vis. Sci. Tech.. 2024; 13(9):4. https://doi.org/10.1167/tvst.13.9.4

Retina August 2024

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation

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Maria Cristina Savastano; Giorgio Placidi; Claudia Fossataro; Federico Giannuzzi; Nicola Claudio D'Onofrio; Lorenzo Hu; Valentina Cestrone; Elena D'Agostino; Ilaria Biagini; Ludovica Paris; Giorgia Coppa; Clara Rizzo; Raphael Kilian; Pietro Chiurazzi; Matteo Bertelli; Paolo Enrico Maltese; Benedetto Falsini; Stanislao Rizzo
TAGS: genetic analysis, retinal atrophy, retinal pigment epithelium, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2024; 13(8):44. https://doi.org/10.1167/tvst.13.8.44

Includes: Supplemental Content

Glaucoma August 2024

Comparison of SNCG and NEFH Promoter–Driven Expression of Human SIRT1 Expression in a Mouse Model of Glaucoma

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Nuala O'Neill; Miranda Meng; Brahim Chaqour; Kimberly Dine; Neha Sarabu; Jennifer C. Pham; Kenneth S. Shindler; Ahmara G. Ross
TAGS: glaucoma, mice, spatial vectors, enhancer of transcription, genes, cytomegalovirus
Trans. Vis. Sci. Tech.. 2024; 13(8):37. https://doi.org/10.1167/tvst.13.8.37

Retina August 2024

Proteomic Analysis of Aqueous Humor in Central Retinal Artery Occlusion: Unveiling Novel Insights Into Disease Pathophysiology

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Rami A. Shahror; Esraa Shosha; Marco H. Ji; Carol A. Morris; Melissa Wild; Bushra Zaman; Christian D. Mitchell; Pedro Tetelbom; Yuet-Kin Leung; Paul H. Phillips; Ahmed A. Sallam; Abdelrahman Y. Fouda
TAGS: aqueous humor, central retinal artery occlusion, hypertension, proteins, pathophysiology, clusterin, enzyme-linked immunosorbent assay
Trans. Vis. Sci. Tech.. 2024; 13(8):30. https://doi.org/10.1167/tvst.13.8.30

Includes: Supplemental Content

Retina August 2024

Efficacy and Safety of Branched Chain Amino Acids on Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial

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Hanako O. Ikeda; Tomoko Hasegawa; Hiroyasu Abe; Yoko Amino; Takayuki Nakagawa; Harue Tada; Manabu Miyata; Akio Oishi; Satoshi Morita; Akitaka Tsujikawa
TAGS: amino acids, branched-chain, placebos, retinitis pigmentosa, safety
Trans. Vis. Sci. Tech.. 2024; 13(8):29. https://doi.org/10.1167/tvst.13.8.29

Includes: Supplemental Content

Glaucoma August 2024

Identification of Optic Nerve–Related Biomarkers in Primary Open-Angle Glaucoma Based on Comprehensive Bioinformatics and Mendelian Randomization

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Sijie Zhao; Qing Dai; Zixuan Rao; Juan Li; Aiqin Wang; Ziqing Gao; Yuchen Fan
TAGS: biological markers, open-angle glaucoma, mendelian randomization analysis, genes, bioinformatics, optic nerve, dna methylation
Trans. Vis. Sci. Tech.. 2024; 13(8):21. https://doi.org/10.1167/tvst.13.8.21

Includes: Supplemental Content

Retina August 2024

Ocular and Serum Profiles of Inflammatory Molecules Associated With Retinitis Pigmentosa

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Yan Tao; Masatoshi Fukushima; Sakurako Shimokawa; Huanyu Zhao; Ayako Okita; Kohta Fujiwara; Atsunobu Takeda; Shizuo Mukai; Koh-Hei Sonoda; Yusuke Murakami
TAGS: aqueous humor, chemokines, cytokine, molecule, retinitis pigmentosa, interleukin-23, interleukin-8
Trans. Vis. Sci. Tech.. 2024; 13(8):18. https://doi.org/10.1167/tvst.13.8.18

Includes: Supplemental Content

New Developments in Vision Research August 2024

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

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Silvia Cerolini; Jean Bennett; Bart P. Leroy; Todd Durham; Courtney Coates; Mathew T. Pletcher; Sue Lacey; Tomas S. Aleman
TAGS: gene therapy, outcome measures, retinal degeneration, science, vision
Trans. Vis. Sci. Tech.. 2024; 13(8):17. https://doi.org/10.1167/tvst.13.8.17

Methods August 2024

Genetic Influence of Oily Fish Intake on Age-Related Macular Degeneration Risk: A Two-Sample Mendelian Randomization Analysis

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Miaoran Gao; Jian Zhou; Jingru Zhao; Zihao Liu; Xianke Luo; Changlu Yang; Xinning Yu; Mengdan Tang; Jiamei Zhu; Xiaoling Yan
TAGS: age-related macular degeneration, fatty fish, genetics, mendelian randomization analysis, instrumental variables
Trans. Vis. Sci. Tech.. 2024; 13(8):14. https://doi.org/10.1167/tvst.13.8.14

Includes: Supplemental Content

Lens July 2024

Construction and Identification of a Novel Mice Model of Microphthalmia

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Dan Li; Kaiwen Cheng; Xiangjia Zhu
TAGS: lens (device), mice, microphthalmos, lens, crystalline, zinc finger protein gli3
Trans. Vis. Sci. Tech.. 2024; 13(7):11. https://doi.org/10.1167/tvst.13.7.11

Includes: Supplemental Content

Cornea & External Disease July 2024

Tear Fluid Progranulin as a Noninvasive Biomarker for the Monitoring of Corneal Innervation Changes in Patients With Type 2 Diabetes Mellitus

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Tianyi Zhou; Zhiwei Dou; Yuchen Cai; Dongqing Zhu; Yao Fu
TAGS: biological markers, cornea, diabetes mellitus, diabetes mellitus, type 2, grn gene, nerve supply, neurons, progranulins, dry eye syndromes
Trans. Vis. Sci. Tech.. 2024; 13(7):9. https://doi.org/10.1167/tvst.13.7.9

Retina June 2024

Intervisit Reproducibility of Foveal Cone Density Metrics

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Iniya Adhan; Emma Warr; Jenna Grieshop; Joseph Kreis; Danica Nikezic; Ashleigh Walesa; Katherine Hemsworth; Robert F. Cooper; Joseph Carroll
TAGS: retinal cone, mosaicism, centers for disease control and prevention (u.s.)
Trans. Vis. Sci. Tech.. 2024; 13(6):18. https://doi.org/10.1167/tvst.13.6.18

Includes: Supplemental Content

Retina June 2024

Cytokine Levels in Experimental Branch Retinal Vein Occlusion Treated With Either Bevacizumab or Triamcinolone Acetonide

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Ian L. McAllister; Sarojini Vijayasekaran; Samuel McLenachan; Riyaz Bhikoo; Fred K. Chen; Dan Zhang; Emily Kanagalingam; Dao-Yi Yu
TAGS: bevacizumab, cytokine, did not receive therapy or drug, eye, genes, proteins, rna, messenger, triamcinolone acetonide, vascular endothelial growth factor a, venous retinal branch occlusion
Trans. Vis. Sci. Tech.. 2024; 13(6):13. https://doi.org/10.1167/tvst.13.6.13

Retina June 2024

Perimacular Atrophy Following Voretigene Neparvovec-Rzyl Treatment in the Setting of Previous Contralateral Eye Treatment With a Different Viral Vector

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Cristy A. Ku; Austin D. Igelman; Samuel J. Huang; Steven T. Bailey; Andreas K. Lauer; Jacque L. Duncan; Richard G. Weleber; Paul Yang; Mark E. Pennesi
TAGS: atrophy, chorioretinal atrophy, eye, genes, viral vector, voretigene neparvovec, visual fields
Trans. Vis. Sci. Tech.. 2024; 13(6):11. https://doi.org/10.1167/tvst.13.6.11

Includes: Supplemental Content

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Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

Neurofilament Isoform Promoter-Driven Expression of Therapeutic Genes

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia

Pharmacological Activation and Transgenic Overexpression of SIRT1 Attenuate Traumatic Optic Neuropathy Induced by Blunt Head Impact

Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy

Causal Association Between Atopic Dermatitis and Keratoconus: A Mendelian Randomization Study

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation

Comparison of SNCG and NEFH Promoter–Driven Expression of Human SIRT1 Expression in a Mouse Model of Glaucoma

Proteomic Analysis of Aqueous Humor in Central Retinal Artery Occlusion: Unveiling Novel Insights Into Disease Pathophysiology

Efficacy and Safety of Branched Chain Amino Acids on Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial

Identification of Optic Nerve–Related Biomarkers in Primary Open-Angle Glaucoma Based on Comprehensive Bioinformatics and Mendelian Randomization

Ocular and Serum Profiles of Inflammatory Molecules Associated With Retinitis Pigmentosa

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12 -Associated Inherited Retinal Degeneration

Genetic Influence of Oily Fish Intake on Age-Related Macular Degeneration Risk: A Two-Sample Mendelian Randomization Analysis

Construction and Identification of a Novel Mice Model of Microphthalmia

Tear Fluid Progranulin as a Noninvasive Biomarker for the Monitoring of Corneal Innervation Changes in Patients With Type 2 Diabetes Mellitus

Intervisit Reproducibility of Foveal Cone Density Metrics

Cytokine Levels in Experimental Branch Retinal Vein Occlusion Treated With Either Bevacizumab or Triamcinolone Acetonide

Perimacular Atrophy Following Voretigene Neparvovec-Rzyl Treatment in the Setting of Previous Contralateral Eye Treatment With a Different Viral Vector

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