Genetics

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Cornea September 2023

Role of Fibroblast Growth Factor Receptor 2 (FGFR2) in Corneal Stromal Thinning

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Roy Joseph; Akosua Boateng; Om P. Srivastava; Roswell R. Pfister
TAGS: cornea, mice, fgfr2 gene, fibroblast growth factor receptors, keratoconus, phenotype
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):40. https://doi.org/10.1167/iovs.64.12.40

Includes: Supplemental Content

Genetics September 2023

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

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Jie Shi; Lu Tian; Tengyang Sun; Xiao Zhang; Ke Xu; Yue Xie; Xiaoyan Peng; Xin Tang; Zi-Bing Jin; Yang Li
TAGS: autosomal recessive inheritance, best1 gene, bestrophinopathy, chinese (other dialects), chinese people, cohort studies, genetic analysis, polymerase chain reaction, haplotypes
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):37. https://doi.org/10.1167/iovs.64.12.37

Includes: Supplemental Content

Retina September 2023

PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes

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Vinay S. Swamy; Zachary A. Batz; David M. McGaughey
TAGS: cells, datasets, gene expression, genes, retinal cone, metadata, body tissue, macula lutea
Trans. Vis. Sci. Tech.. 2023; 12(9):18. https://doi.org/10.1167/tvst.12.9.18

Includes: Supplemental Content

Retina September 2023

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

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Jana Sajovic; Andrej Meglič; Zelia Corradi; Mubeen Khan; Aleš Maver; Martina Jarc Vidmar; Marko Hawlina; Frans P. M. Cremers; Ana Fakin
TAGS: abca4 gene, alleles, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):33. https://doi.org/10.1167/iovs.64.12.33

Includes: Supplemental Content

Immunology and Microbiology September 2023

Causal Effects of Gut Microbiota on Age-Related Macular Degeneration: A Mendelian Randomization Study

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Deshen Mao; Borui Tao; Shuyan Sheng; Hui Jin; Wenxuan Chen; Huimin Gao; Jianyi Deng; Zhuo Li; Fan Chen; Shixin Chan; Longqi Qian
TAGS: age-related macular degeneration, mendelian randomization analysis, microbiome, sensitivity analysis, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):32. https://doi.org/10.1167/iovs.64.12.32

Includes: Supplemental Content

Clinical and Epidemiologic Research September 2023

Genetic Risk Score Analysis Supports a Joint View of Two Classification Systems for Age-Related Macular Degeneration

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Janina M. Herold; Martina E. Zimmermann; Mathias Gorski; Felix Günther; Bernhard H. F. Weber; Horst Helbig; Klaus J. Stark; Iris M. Heid; Caroline Brandl
TAGS: age-related macular degeneration, chief complaint, genetic risk, drusen, genetics, color
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):31. https://doi.org/10.1167/iovs.64.12.31

Includes: Supplemental Content

Visual Neuroscience September 2023

Regulation of Axon Guidance by Slit2 and Netrin-1 Signaling in the Lacrimal Gland of Aqp5 Knockout Mice

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Ying Bai; Guohu Di; Huanhuan Ge; Bin Li; Kaier Zhang; Di Zhang; Dianqiang Wang; Peng Chen
TAGS: langer-giedion syndrome, mice, netrin-1, neurons, axon, axon guidance, lacrimal gland
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):27. https://doi.org/10.1167/iovs.64.12.27

Includes: Multimedia, Supplemental Content

Genetics September 2023

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

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Paul-Henri Seguy; Jean-François Korobelnik; Marie-Noëlle Delyfer; Vincent Michaud; Benoit Arveiler; Eulalie Lasseaux; Sarra Gattoussi; Marie-Bénédicte Rougier; Kilian Trin; Fanny Morice-Picard; Nathalie Ghomashchi; Valentine Coste
TAGS: albinism, albinism, oculocutaneous, foveal hypoplasia, genotype, oculocutaneous albinism type 1, phenotype, genetic analysis, oculocutaneous albinism type 2, oculocutaneous albinism type 4, refractive errors
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):26. https://doi.org/10.1167/iovs.64.12.26

Includes: Supplemental Content

Glaucoma September 2023

Exploring Early-Stage Retinal Neurodegeneration in Murine Pigmentary Glaucoma: Insights From Gene Networks and miRNA Regulation Analyses

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Qingqing Gu; Aman Kumar; Michael Hook; Fuyi Xu; Akhilesh Kumar Bajpai; Athena Starlard-Davenport; Junming Yue; Monica M. Jablonski; Lu Lu
TAGS: genes, mice, micrornas, glaucoma, pigmentary, glaucoma, nerve degeneration
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):25. https://doi.org/10.1167/iovs.64.12.25

Includes: Supplemental Content

Genetics September 2023

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

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Matthew D. Benson; Souvick Mukherjee; Aime R. Agather; Delphine Blain; Denise Cunningham; Robert Mays; Xun Sun; Tiansen Li; Robert B. Hufnagel; Brian P. Brooks; Laryssa A. Huryn; Wadih M. Zein; Catherine A. Cukras
TAGS: phenotype determination, retinal diseases, genetics, dark adaptation, diagnostic imaging, cohort studies, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):19. https://doi.org/10.1167/iovs.64.12.19

Includes: Supplemental Content

Anatomy and Pathology/Oncology September 2023

Mechanisms of Extraorbital Lacrimal Gland Aging in Mice: An Integrative Analysis of the Temporal Transcriptome

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Jiangman Liu; Hongli Si; Duliurui Huang; Dingli Lu; Sen Zou; Di Qi; Xiaoting Pei; Shenzhen Huang; Zhijie Li
TAGS: aging, mice, lacrimal gland
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):18. https://doi.org/10.1167/iovs.64.12.18

Includes: Supplemental Content

Genetics September 2023

TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis

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Hao-Kai Chuang; Ai-Ru Hsieh; Tien-Yap Ang; Szu-Wen Chen; Yi-Ping Yang; Hung-Juei Huang; Shih-Hwa Chiou; Tai-Chi Lin; Shih-Jen Chen; Chih-Chien Hsu; De-Kuang Hwang
TAGS: genetic risk, genome-wide association study, polygenic risk score, polymorphism, retinal detachment, vipr2 gene
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):17. https://doi.org/10.1167/iovs.64.12.17

Includes: Supplemental Content

Article September 2023

Measuring the reliability of binocular rivalry

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Miriam Acquafredda; İzel D. Sarı; Cecilia Steinwurzel; Claudia Lunghi; Paola Binda
TAGS: reliability, ocular dominance
Journal of Vision. 2023; 23(10):5. https://doi.org/10.1167/jov.23.10.5

Retina September 2023

Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time

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Alessio Antropoli; Alessandro Arrigo; Lorenzo Bianco; Elena Cavallari; Francesco Bandello; Maurizio Battaglia Parodi
TAGS: eye, follow-up, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):8. https://doi.org/10.1167/iovs.64.12.8

Includes: Supplemental Content

Genetics September 2023

Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice

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Lue Xiang; Qiao-Li Yang; Bin-Tao Xie; Hui-Yi Zeng; Liu-Jun Ding; Feng-Qin Rao; Tong Yan; Fan Lu; Qi Chen; Xiu-Feng Huang
TAGS: arginine, mice, retina, retinal degeneration, metabolism, mice, knockout, metabolomics, proteins
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):2. https://doi.org/10.1167/iovs.64.12.2

Includes: Supplemental Content

Glaucoma September 2023

Keratin8 Deficiency Aggravates Retinal Ganglion Cell Damage Under Acute Ocular Hypertension

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Chengshou Zhang; Naiji Yu; Qiyu Qin; Xingdi Wu; Yuxiang Gu; Tong Liu; Qi Zhang; Xin Liu; Min Chen; Kaijun Wang
TAGS: glaucoma, ocular hypertension, retina, retinal ganglion cells, symptom aggravating factors, wounds and injuries, apoptosis, mitogen-activated protein kinases, mice, fluorescent antibody technique
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):1. https://doi.org/10.1167/iovs.64.12.1

Includes: Supplemental Content

Optica Fall Vision Meeting Abstract September 2023

Poster Session: After up to a year of hyperglycemia Ins2Akita mice show minimal capillary change

Fei Shang; Jesse Schallek
TAGS: blood capillaries, hyperglycemia, mice, posters
Journal of Vision. 2023; 23(11):68. https://doi.org/10.1167/jov.23.11.68

Optica Fall Vision Meeting Abstract September 2023

Poster Session: Optogenetic Stimulation and Calcium Imaging of Single Ganglion Cells in the Living Macaque Fovea

Peter Murphy; Juliette McGregor; Zhengyang Xu; William Merigan; David Williams
TAGS: calcium, diagnostic imaging, fovea centralis, ganglia, macaca, optogenetics, posters
Journal of Vision. 2023; 23(11):62. https://doi.org/10.1167/jov.23.11.62

Optica Fall Vision Meeting Abstract September 2023

Invited Session IV: Studies of the visual cortex with sub-millimeter resolution: Toward an all-optical bi-directional interrogation of topographic population codes in primate cortex

Eyal Seidemann
TAGS: optics, primates, visual cortex
Journal of Vision. 2023; 23(11):26. https://doi.org/10.1167/jov.23.11.26

Optica Fall Vision Meeting Abstract September 2023

Invited Session I: Vision restoration: Genetic therapies for inherited retinal disorders

Rachel Huckfeldt
TAGS: genetics, retinal diseases, vision
Journal of Vision. 2023; 23(11):6. https://doi.org/10.1167/jov.23.11.6

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Role of Fibroblast Growth Factor Receptor 2 (FGFR2) in Corneal Stromal Thinning

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Causal Effects of Gut Microbiota on Age-Related Macular Degeneration: A Mendelian Randomization Study

Genetic Risk Score Analysis Supports a Joint View of Two Classification Systems for Age-Related Macular Degeneration

Regulation of Axon Guidance by Slit2 and Netrin-1 Signaling in the Lacrimal Gland of Aqp5 Knockout Mice

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Exploring Early-Stage Retinal Neurodegeneration in Murine Pigmentary Glaucoma: Insights From Gene Networks and miRNA Regulation Analyses

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Mechanisms of Extraorbital Lacrimal Gland Aging in Mice: An Integrative Analysis of the Temporal Transcriptome

TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis

Measuring the reliability of binocular rivalry

Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time

Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice

Keratin8 Deficiency Aggravates Retinal Ganglion Cell Damage Under Acute Ocular Hypertension

Poster Session: After up to a year of hyperglycemia Ins2Akita mice show minimal capillary change

Poster Session: Optogenetic Stimulation and Calcium Imaging of Single Ganglion Cells in the Living Macaque Fovea

Invited Session IV: Studies of the visual cortex with sub-millimeter resolution: Toward an all-optical bi-directional interrogation of topographic population codes in primate cortex

Invited Session I: Vision restoration: Genetic therapies for inherited retinal disorders

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