Genetics

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Clinical and Epidemiologic Research June 2025

Changes in Retinal Vasculature Phenotype and Choroidal Blood Flow at High Altitude in Healthy Lowlanders

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Jérémy De Abreu; Aymeric Paillisser; Florence Berquet; Stephen Hogg; Emanuele Trucco; Martial H. Geiser; Aurélien Pichon; Michael Furian; Emeric Stauffer; Benoit Champigneulle; Julien Vincent Brugniaux; Thomas J. Macgillivray; Samuel Vergès; Christophe Chiquet
TAGS: high altitude, hypoxia, phenotype, retinal vasculature, vascular flow, vasculature, laser-doppler flowmetry, altitude, ophthalmic examination and evaluation
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):50. https://doi.org/10.1167/iovs.66.6.50

Includes: Supplemental Content

Genetics June 2025

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

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Rola Ba-Abbad; Igor V. Peshenko; Malena Daich Varela; Siying Lin; Gavin Arno; Omar A. Mahroo; Catherine Egan; Anthony G. Robson; Elena V. Olshevskaya; Alexander M. Dizhoor; Andrew R. Webster
TAGS: alleles, night blindness, retinal cone, electroretinography, rod photoreceptors, phenotype, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):22. https://doi.org/10.1167/iovs.66.6.22

Includes: Supplemental Content

Multidisciplinary Ophthalmic Imaging June 2025

Choroidal Hyperreflective Foci Represent a Common Finding Across Different Types of Macular Atrophy

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Lorena Ulla; Claudio Foti; Alessandro Arrigo; Maurizio Battaglia Parodi; Maria Vittoria Cicinelli; Paola Marolo; Elisabetta Miserocchi; Mario Peronetti; Francesco Bandello; Enrico Borrelli; Michele Reibaldi
TAGS: atrophoderma maculatum
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):42. https://doi.org/10.1167/iovs.66.6.42

Includes: Supplemental Content

Genetics June 2025

Investigating the Immunogenic Potential of Variations in Host Cell Protein Levels in Clinical-Grade AAV8 Products

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Immanuel P. Seitz; Eduardo Rodríguez-Bocanegra; Kirsten Bucher; Felix F. Reichel; Stylianos Michalakis; Dimitri Romanovsky; Martin Biel; Bernd Wissinger; Karl-Ulrich Bartz-Schmidt; Tobias Peters; Manuel D. Fischer; on behalf of the RD-CURE Consortium
TAGS: disease vectors, proteins, spatial vectors, cytokine, thp-1 cells
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):38. https://doi.org/10.1167/iovs.66.6.38

Includes: Supplemental Content

Retina June 2025

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan

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Chien-Chien Cheng; Chien-Yu Lin; Ting-Chieh Ko; Yu-Shu Huang; Chu-Hsuan Huang; Chang-Hao Yang; Tzyy-Chang Ho; Pei-Lung Chen; Ta-Ching Chen
TAGS: alstrom syndrome, genotype, taiwan, obesity, electroretinography, massively-parallel genome sequencing, visual impairment
Trans. Vis. Sci. Tech.. 2025; 14(6):22. https://doi.org/10.1167/tvst.14.6.22

Includes: Supplemental Content

Artificial Intelligence June 2025

Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients

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Catarina P. Coutinho; Ferdinando Zanchetta; Michele Carbonelli; Marco Battista; Alice Galzignato; Chiara La Morgia; Giulia Amore; Martina Romagnoli; Giacomo Savini; Luigi Brotto; Paolo Nucci; Leonardo Caporali; Francesco Bandello; Valerio Carelli; Maria Lucia Cascavilla; Rita Fioresi; Piero Barboni
TAGS: antithymoglobulin, arterial tortuosity syndrome, dead on arrival, optic atrophy, autosomal dominant, periodic paralysis, potassium-sensitive cardiodysrhythmic type, visual fields, mutation, machine learning
Trans. Vis. Sci. Tech.. 2025; 14(6):20. https://doi.org/10.1167/tvst.14.6.20

Includes: Supplemental Content

Review June 2025

Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review

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Siyin Liu; Lynn Kandakji; Aleksander Stupnicki; Dayyanah Sumodhee; Marcello T. Leucci; Scott Hau; Shafi Balal; Arthur Okonkwo; Ismail Moghul; Sandor P. Kanda; Bruce D. Allan; Dan M. Gore; Kirithika Muthusamy; Alison J. Hardcastle; Alice E. Davidson; Petra Liskova; Nikolas Pontikos
TAGS: artificial intelligence, cornea, corneal edema, corneal endothelium, datasets, diagnostic imaging, endothelium, eye, hereditary corneal dystrophy, systematic reviews
Trans. Vis. Sci. Tech.. 2025; 14(6):12. https://doi.org/10.1167/tvst.14.6.12

Includes: Supplemental Content

Lens June 2025

Light Influences Time-of-Day Differences in the Expression of Clock Genes and Redox Genes Involved in Glutathione Homeostasis in the Lens

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Bo Li; Haruna Suzuki-Kerr; Christopher J. J. Lim; Renita M. Martis; Fenger Ou Yang; Erl Carlos; Paul J. Donaldson; Raewyn C. Poulsen; Julie C. Lim
TAGS: clock gene, genes, lens (device), lens, crystalline, glutathione, oxidation-reduction, regulation, homeostasis, melanopsin
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):24. https://doi.org/10.1167/iovs.66.6.24

Includes: Supplemental Content

Editorial June 2025

The Multifaceted Landscape of Myopia: Exploring Animal Models, the Optical and Visual Diet, Genetic and Environmental Factors, Access to Care, and Treatment Approaches

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Tina M. Winters; Molly Checksfield Dorries
TAGS: animal model, diet, environmental factors, genetics, health services accessibility, myopia, optics
Invest. Ophthalmol. Vis. Sci.. 2025; 66(7):1. https://doi.org/10.1167/iovs.66.7.1

Special Issue June 2025

Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research

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Katie M. Williams; Christopher J. Hammond
TAGS: myopia, genetics
Invest. Ophthalmol. Vis. Sci.. 2025; 66(7):4. https://doi.org/10.1167/iovs.66.7.4

Genetics June 2025

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

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Daan M. Panneman; Rebekkah J. Hitti-Malin; Martin McKibbin; Suzanne E. de Bruijn; Erica G. M. Boonen; Andrea L. Vincent; Glenda Vargas; Jordi Corominas; Galuh Astuti; Christian Gilissen; Elfride De Baere; Chris F. Inglehearn; Susanne Roosing; Robert K. Koenekoop; Frans P. M. Cremers
TAGS: abca4 gene, retinal diseases, retinal dystrophies, genes, proband, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):19. https://doi.org/10.1167/iovs.66.6.19

Includes: Supplemental Content

Cornea June 2025

Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene

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Yuki Oyama; Suguru Ito; Taichi Yuasa; Mizuki Ueda; Satoshi Chiba; Tatsuya Nakagawa; Ayaka Izumi; Masahito Ikawa; Noriko Koizumi; Naoki Okumura
TAGS: endothelium, genes, hereditary corneal dystrophy, mice, trinucleotide repeat expansion, cornea, sequence analysis, rna
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):18. https://doi.org/10.1167/iovs.66.6.18

Includes: Supplemental Content

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology June 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

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Neringa Jurkute; Heiko Brennenstuhl; Monika Kustermann; Lindsey Van Haute; Christian D. Mutti; Enrico Bugiardini; Takayuki Handa; Masaru Shimura; Axel Petzold; James Acheson; Anthony G. Robson; William L. Macken; Michael G. Hanna; Robert D. S. Pitceathly; Ashirwad Merve; Urania Kotzaeridou; Stefan Kölker; Michael Freilinger; Marcus Erdler; Reginald E. Bittner; Johannes A. Mayr; Yasushi Okazaki; Kei Murayama; Holger Prokisch; Andrew R. Webster; Michal Minczuk; Gavin Arno; Berthold Pemp; Georg F. Hoffmann; Wolfgang M. Schmidt; Patrick Yu-Wai-Man
TAGS: family, mitochondrial diseases, optic atrophy, phenotype, mitochondria, optic nerve disorders, respiratory chain
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):17. https://doi.org/10.1167/iovs.66.6.17

Includes: Supplemental Content

Glaucoma June 2025

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma

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Xiaowei Yu; Hanxue Zhao; Yan Gao; Tao Zhou; Lin Deng; Miao Zhang; Hongyu Zhong; Feng Mei; Zhijun Li; Longyan Sun; Tianrui Zhang; Yan Shi; Zhigang Fan
TAGS: angle closure glaucoma, chinese (other dialects), chinese people, cohort studies, genetics, genotype, microphthalmos, phenotype, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):9. https://doi.org/10.1167/iovs.66.6.9

Includes: Supplemental Content

Glaucoma June 2025

PRMT5 Regulates Senescence in Retinal Ganglion Cells by Targeting the Wnt/β-Catenin Signaling Cascade

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Yumeng Zhang; Hanwen Huang; Huimin Zhong; Yang Zhang; Siqi He; Yanzhi Guo; Yiwei Wang; Ping Huang; Shouyue Huang; Yisheng Zhong
TAGS: aging, mice, older adult, signal transduction, retinal ganglion cells, western blotting, hypoxia
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):8. https://doi.org/10.1167/iovs.66.6.8

Includes: Supplemental Content

Glaucoma June 2025

Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Genes Associated With POAG

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Jianqi Chen; Xiaohua Zhuo; Yangjiani Li; Yingting Zhu; Zhidong Li; Xinyue Shen; Yehong Zhuo; Hongmei Tan; Lei Lei
TAGS: body tissue, genes, open-angle glaucoma
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):7. https://doi.org/10.1167/iovs.66.6.7

Includes: Supplemental Content

Low Vision June 2025

The Efficiency and Safety of Oxygen-Supplemented Accelerated Scleral Cross-Linking in Rabbits

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Lingling Yan; Ce Wu; Xiaona Liu; Pengfei Han; Jie Zhang; Zhipeng Gao; Xiaona Li; Weiyi Chen
TAGS: cross-linking, oryctolagus cuniculus, oxygen, sclera, safety
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):10. https://doi.org/10.1167/iovs.66.6.10

Includes: Supplemental Content

Genetics June 2025

Several Common Genetic Variations Associate With Functional or Anatomic Effects of Anti-VEGF Treatment in Conditions With Macular Edema

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Ingeborg Klaassen; Maartje J. C. Vader; Khadija Aissa; Michael W. T. Tanck; Reinier O. Schlingemann; for the BRAMD, BRVO, and BRDME Study Groups
TAGS: anti-vascular endothelial growth factor therapy, genes, genetic variation, genetics, macular edema, single nucleotide polymorphism, genome-wide association study, genome
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):2. https://doi.org/10.1167/iovs.66.6.2

Includes: Supplemental Content

Retina June 2025

Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies

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Benjamin W. J. Ng; Tien-En Tan; Vasil Kostin; Robert E. MacLaren; Jasmina Cehajic-Kapetanovic
TAGS: optogenetics, retinal diseases, spectral domain-optical coherence tomography, macular dystrophy, retina, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2025; 14(6):2. https://doi.org/10.1167/tvst.14.6.2

Includes: Supplemental Content

Glaucoma May 2025

Ferroptosis Contributes to Retinal Ganglion Cell Loss in GLAST Knockout Mouse Model of Normal Tension Glaucoma

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Huiwen Ye; Yanlin Feng; Wu Xiang; Zihao Lin; Yue Li; Wen Hu; Keyu Liu; Shuya Tao; Qinmeng Shu; Jiawei Wang; Fan Xu; Yue Xu; Yantao Wei; Jingjing Huang
TAGS: ferroptosis, mice, glutamate, glutamates, excitotoxicity, low tension glaucoma, lipid peroxidation, retina, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2025; 66(5):26. https://doi.org/10.1167/iovs.66.5.26

Includes: Supplemental Content

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Changes in Retinal Vasculature Phenotype and Choroidal Blood Flow at High Altitude in Healthy Lowlanders

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

Choroidal Hyperreflective Foci Represent a Common Finding Across Different Types of Macular Atrophy

Investigating the Immunogenic Potential of Variations in Host Cell Protein Levels in Clinical-Grade AAV8 Products

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan

Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients

Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review

Light Influences Time-of-Day Differences in the Expression of Clock Genes and Redox Genes Involved in Glutathione Homeostasis in the Lens

The Multifaceted Landscape of Myopia: Exploring Animal Models, the Optical and Visual Diet, Genetic and Environmental Factors, Access to Care, and Treatment Approaches

Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma

PRMT5 Regulates Senescence in Retinal Ganglion Cells by Targeting the Wnt/β-Catenin Signaling Cascade

Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Genes Associated With POAG

The Efficiency and Safety of Oxygen-Supplemented Accelerated Scleral Cross-Linking in Rabbits

Several Common Genetic Variations Associate With Functional or Anatomic Effects of Anti-VEGF Treatment in Conditions With Macular Edema

Characterizing Inner Retinal Changes in End-Stage Inherited Retinal Diseases That Might be Suitable for Optogenetic Therapies

Ferroptosis Contributes to Retinal Ganglion Cell Loss in GLAST Knockout Mouse Model of Normal Tension Glaucoma

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