Genetics

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Uveitis May 2025

Associations Between the Gut Microbiota and Its Related Metabolic Pathways and Uveitis: A Bidirectional Two-Sample Mendelian Randomization Study

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Maomei Luo; Zhen Xing; Yanhao Gou; Xianlin Yang; Xinran Zhang; Wei Yu; Hongbin Lv
TAGS: uveitis, gastrointestinal microbiome, mendelian randomization analysis
Trans. Vis. Sci. Tech.. 2025; 14(5):15. https://doi.org/10.1167/tvst.14.5.15

Retina May 2025

Face and Available Chair Detection and Localization With a Second-Generation (44-Channel) Suprachoroidal Retinal Prosthesis

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Lisa Lombardi; Matthew A. Petoe; Lauren Moussallem; Maria Kolic; Elizabeth K. Baglin; Samuel Stefopoulos; Xerxes Battiwalla; Janine G. Walker; Nick Barnes; Carla J. Abbott; Penelope J. Allen; for the Bionics Institute and Centre for Eye Research Australia Retinal Prosthesis Consortium
TAGS: brca2 gene, congenital heart disease, coronary arteriosclerosis, coronary heart disease, face, flavin-adenine dinucleotide, prostheses, psen1 gene, second language, second lumbar vertebra
Trans. Vis. Sci. Tech.. 2025; 14(5):11. https://doi.org/10.1167/tvst.14.5.11

Retina May 2025

Exploring Therapeutic Targets for Age-Related Macular Degeneration From Circulating Proteins to Plasma Metabolites in the European Population

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Chengming Chen; Yanyan Lan; Weiming Yan; Xiaohong Zhang; Tian Li; Jing Han
TAGS: age-related macular degeneration, metabolites, plasma, proteins, european continental ancestry group
Trans. Vis. Sci. Tech.. 2025; 14(5):8. https://doi.org/10.1167/tvst.14.5.8

Includes: Supplemental Content

Retina May 2025

Genetic Evidence Supporting a Causal Association Between mTORC1-Dependent Circulating Protein Levels and Diabetic Retinopathy

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Yaqi Bai; Yujia Xi; Chenwei Gui; Guohai Huang; Guohong Zhou
TAGS: diabetic retinopathy, genetics, mechanistic target of rapamycin complex 1, proteins
Trans. Vis. Sci. Tech.. 2025; 14(5):4. https://doi.org/10.1167/tvst.14.5.4

Includes: Supplemental Content

Refractive Intervention May 2025

Association Between Inflammatory Cytokines and Refractive Errors: A Bidirectional Mendelian Randomization Study

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Yue Xu; Xing-Xuan Dong; Yun Wang; Xin-Yu Zhuang; Ying-Jie Chen; Xiao-Feng Zhang; Chen-Wei Pan
TAGS: cytokine, mendelian randomization analysis, refractive errors, ciliary motility disorders
Trans. Vis. Sci. Tech.. 2025; 14(5):1. https://doi.org/10.1167/tvst.14.5.1

Includes: Supplemental Content

Cornea & External Disease April 2025

A Tear-Based Approach for Rapid Identification of Bacterial Pathogens in Corneal Ulcers Using Nanopore Sequencing

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Mark Dibbs; Mitchelle Matesva; Despoina Theotoka; Christina Jayaraj; Beruk Metiku; Patrick Demkowicz; Jacob S. Heng; Yvonne Wang; Christine Y. Bakhoum; Jessica Chow; Mathieu F. Bakhoum
TAGS: bacteria, corneal ulcer, nanopore sequencing, pathogenic organism, ulcer, eye, cornea
Trans. Vis. Sci. Tech.. 2025; 14(4):19. https://doi.org/10.1167/tvst.14.4.19

Includes: Supplemental Content

Retina April 2025

Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment

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Kao-Jung Chang; Ching-Yun Wang; Hsin-Yu Wu; Pei-Yu Weng; Chia-Hsin Lu; Wei Chiu; Wei-Chieh Fang; Chong-En Kao; Cheng-Yi Li; Yi-Ting Chung; Yu-Chun Chen; Ai-Ru Hsieh; Shih-Hwa Chiou; Chih-Chien Hsu; Tai-Chi Lin; Shih-Jen Chen; De-Kuang Hwang
TAGS: biological markers, polygenic risk score, retinal detachment, screening, ultrasonography, hypertension
Trans. Vis. Sci. Tech.. 2025; 14(4):16. https://doi.org/10.1167/tvst.14.4.16

Includes: Supplemental Content

Cornea & External Disease April 2025

Causal Relationship Between Common Allergic Diseases and Keratoconus: A Two-Sample Mendelian Randomization Study

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Xiru Yang; Xinyao Yu; Shan Gao; Pinghui Wei; Guoge Han
TAGS: extrinsic asthma, hypersensitivity, keratoconus, mendelian randomization analysis, atopic dermatitis, urticaria
Trans. Vis. Sci. Tech.. 2025; 14(4):14. https://doi.org/10.1167/tvst.14.4.14

Cornea & External Disease April 2025

Metabolic Biomarkers Mediate Allergic Conjunctivitis via Circulating Inflammatory Proteins: Evidence From a Mendelian Randomization Study

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Xiang Cao; Zijiao Xu; Boyang Zhang; Qingyu Li; Zhixin Jiang; Xiaoyong Yuan
TAGS: allergic conjunctivitis, biological markers, mendelian randomization analysis, modified barium swallow, proteins
Trans. Vis. Sci. Tech.. 2025; 14(4):12. https://doi.org/10.1167/tvst.14.4.12

Includes: Supplemental Content

Letters to the Editor April 2025

The Future of Retinitis Pigmentosa Research: Unlocking the Potential of Branched-Chain Amino Acid Therapy

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Qinling Jiang; Lin Mou
TAGS: amino acids, branched-chain, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2025; 14(4):10. https://doi.org/10.1167/tvst.14.4.10

Retina March 2025

Addressing Multiplicity in Retinal Sensitivity Analysis: An Alternative Approach to Assessing Gene Therapy Efficacy in Inherited Retinal Diseases

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Antonio Yaghy; David G. Birch; Yunchan Hwang; Edmund Luo; JungAh Jung; Darin Curtiss; Nadia K. Waheed
TAGS: gene therapy, retinal diseases, sensitivity analysis, treatment effect
Trans. Vis. Sci. Tech.. 2025; 14(3):25. https://doi.org/10.1167/tvst.14.3.25

Retina March 2025

Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging

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Ivana Mihalek; Hanna De Bruyn; Tomislav Glavan; Annie M. Lancos; Caitlin M. Ciolfi; Katarzyna Malendowicz; Sigrid Aslaksen; Laurie L. Molday; Robert S. Molday; Anne B. Fulton
TAGS: abca4 gene, fovea centralis, fundus autofluorescence imaging, pixel, stargardt's disease, artifacts, eye
Trans. Vis. Sci. Tech.. 2025; 14(3):16. https://doi.org/10.1167/tvst.14.3.16

Includes: Supplemental Content

Retina February 2025

Phenotypic Distinctions Between EYS - and USH2A -Associated Retinitis Pigmentosa in an Asian Population

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Ellis Y. H. Yeo; Taro Kominami; Tien-En Tan; Lathiksha Babu; Kevin G. S. Ong; Weilun Tan; Yasmin M. Bylstra; Kanika Jain; Rachael W. C. Tang; Saadia Z. Farooqui; Sylvia P. R. Kam; Choi-Mun Chan; Ranjana S. Mathur; Saumya S. Jamuar; Weng Khong Lim; Koji Nishiguchi; Beau J. Fenner
TAGS: asian, cohort studies, phenotype, retinitis pigmentosa, symptom onset, genotype
Trans. Vis. Sci. Tech.. 2025; 14(2):16. https://doi.org/10.1167/tvst.14.2.16

Includes: Supplemental Content

Neuro-ophthalmology February 2025

Visual Tract Integrity Before and After Gene Therapy in Congenital Achromatopsia

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Hillel Abramovitch; Atira S. Bick; Nitzan Guy; Deena Elul; Ayelet Mckyton; Eyal Banin; Netta Levin
TAGS: achromatopsia, gene therapy, personal integrity, visual pathways, optic tract
Trans. Vis. Sci. Tech.. 2025; 14(2):9. https://doi.org/10.1167/tvst.14.2.9

Includes: Supplemental Content

Uveitis February 2025

Genetics of Circulating Inflammatory Proteins and Iridocyclitis: An Exploratory Mendelian Randomization Study

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Huan Liu; Fuzhen Li; Feiyan Wang; Ziqing Hu; Liping Du; Jing Wei
TAGS: cytokine, iridocyclitis, genetics, proteins, mendelian randomization analysis
Trans. Vis. Sci. Tech.. 2025; 14(2):6. https://doi.org/10.1167/tvst.14.2.6

Includes: Supplemental Content

Public Health February 2025

Associations Between Diabetic Retinopathy and Frailty: Insights From the National Health and Nutrition Examination Survey and Mendelian Randomization

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Jianqi Chen; Xuhao Chen; Xu Cao; Xiaohua Zhuo; Yuwen Wen; Guitong Ye; Yuan Zhang; Jinan Zhan; Hongmei Tan; Yingting Zhu; Yehong Zhuo
TAGS: frailty, national health and nutrition examination survey, diabetic retinopathy, mendelian randomization analysis
Trans. Vis. Sci. Tech.. 2025; 14(2):2. https://doi.org/10.1167/tvst.14.2.2

Includes: Supplemental Content

Retina February 2025

Effect of the Sugar Present in the Culture Medium on the Preservation of Human RPE Cell Suspensions

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Shohei Kitahata; Hinako Ichikawa; Yuji Tanaka; Shin Tanaka; Tatsuya Inoue; Maiko Maruyama-Inoue; Kazuaki Kadonosono
TAGS: culture media, retinal pigment cell, sugars, fructose
Trans. Vis. Sci. Tech.. 2025; 14(2):1. https://doi.org/10.1167/tvst.14.2.1

Includes: Supplemental Content

Retina January 2025

Ocular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates

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Immanuel P. Seitz; Fabian Wozar; Guy Alex Ochakovski; Felix F. Reichel; Sven Korte; Birgit Korbmacher; Barbara Wilhelm; Daniela Süsskind; Karl-Ulrich Bartz-Schmidt; M. Dominik Fischer; Tobias Peters; for the RD Cure Consortium
TAGS: electroretinography, eye, gene therapy, histology, ophthalmic examination and evaluation, primates, safety, surgical procedures, operative, toxicology, intraocular pressure
Trans. Vis. Sci. Tech.. 2025; 14(1):29. https://doi.org/10.1167/tvst.14.1.29

Glaucoma January 2025

Corneal Stromal Stem Cell-Derived Extracellular Vesicles Attenuate ANGPTL7 Expression in the Human Trabecular Meshwork

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Faycal Moujane; Chi Zhang; Robert Knight; John Y. Lee; Sophie X. Deng; Jie J. Zheng
TAGS: attenuation, cornea, extracellular vesicles, glaucoma, myoc gene, trabecular meshwork, culture media, conditioned, dexamethasone, genes, intraocular pressure
Trans. Vis. Sci. Tech.. 2025; 14(1):21. https://doi.org/10.1167/tvst.14.1.21

Retina January 2025

High-Resolution OCT Reveals Age-Associated Variation in the Region Posterior to the External Limiting Membrane

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Muhammad Usman Jamil; Jungeun Won; Stefan B. Ploner; Anna Marmalidou; Hiroyuki Takahashi; Stephanie Kaiser; Yunchan Hwang; Omar Abu-Qamar; Antonio Yaghy; Andre J. Witkin; Peter Y. Zhao; Shilpa Desai; Jay S. Duker; Andreas Maier; James G. Fujimoto; Nadia K. Waheed
TAGS: embryonic lethal mutation, tissue membrane, diagnostic imaging, volume, motion
Trans. Vis. Sci. Tech.. 2025; 14(1):16. https://doi.org/10.1167/tvst.14.1.16

Includes: Supplemental Content

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Associations Between the Gut Microbiota and Its Related Metabolic Pathways and Uveitis: A Bidirectional Two-Sample Mendelian Randomization Study

Face and Available Chair Detection and Localization With a Second-Generation (44-Channel) Suprachoroidal Retinal Prosthesis

Exploring Therapeutic Targets for Age-Related Macular Degeneration From Circulating Proteins to Plasma Metabolites in the European Population

Genetic Evidence Supporting a Causal Association Between mTORC1-Dependent Circulating Protein Levels and Diabetic Retinopathy

Association Between Inflammatory Cytokines and Refractive Errors: A Bidirectional Mendelian Randomization Study

A Tear-Based Approach for Rapid Identification of Bacterial Pathogens in Corneal Ulcers Using Nanopore Sequencing

Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment

Causal Relationship Between Common Allergic Diseases and Keratoconus: A Two-Sample Mendelian Randomization Study

Metabolic Biomarkers Mediate Allergic Conjunctivitis via Circulating Inflammatory Proteins: Evidence From a Mendelian Randomization Study

The Future of Retinitis Pigmentosa Research: Unlocking the Potential of Branched-Chain Amino Acid Therapy

Addressing Multiplicity in Retinal Sensitivity Analysis: An Alternative Approach to Assessing Gene Therapy Efficacy in Inherited Retinal Diseases

Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging

Phenotypic Distinctions Between EYS - and USH2A -Associated Retinitis Pigmentosa in an Asian Population

Visual Tract Integrity Before and After Gene Therapy in Congenital Achromatopsia

Genetics of Circulating Inflammatory Proteins and Iridocyclitis: An Exploratory Mendelian Randomization Study

Associations Between Diabetic Retinopathy and Frailty: Insights From the National Health and Nutrition Examination Survey and Mendelian Randomization

Effect of the Sugar Present in the Culture Medium on the Preservation of Human RPE Cell Suspensions

Ocular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates

Corneal Stromal Stem Cell-Derived Extracellular Vesicles Attenuate ANGPTL7 Expression in the Human Trabecular Meshwork

High-Resolution OCT Reveals Age-Associated Variation in the Region Posterior to the External Limiting Membrane

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