Genetics

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Articles February 2021

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1 -Associated Retinopathies

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Danial Roshandel; Jennifer A. Thompson; Rachael C. Heath Jeffery; Danuta M. Sampson; Enid Chelva; Terri L. McLaren; Tina M. Lamey; John N. De Roach; Shane R. Durkin; Fred K. Chen
TAGS: diagnostic imaging of retina, macular disorders, phenotype, retinal diseases, surrogate endpoints, volume, spectral domain-optical coherence tomography, fenestration
Trans. Vis. Sci. Tech.. 2021; 10(2):38. doi: https://doi.org/10.1167/tvst.10.2.38

Includes: Supplemental Content

Articles February 2021

Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR -Associated Retinitis Pigmentosa

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Laura J. Wood; Jasleen K. Jolly; Amandeep S. Josan; Thomas M. W. Buckley; Robert E. MacLaren
TAGS: choroideremia, luminance, retinitis pigmentosa, visual acuity
Trans. Vis. Sci. Tech.. 2021; 10(2):28. doi: https://doi.org/10.1167/tvst.10.2.28

Articles February 2021

Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk

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Qi Yan; Yale Jiang; Heng Huang; Anand Swaroop; Emily Y. Chew; Daniel E. Weeks; Wei Chen; Ying Ding
TAGS: age-related macular degeneration, genome, genome-wide association study, machine learning, single nucleotide polymorphism, datasets, genotype
Trans. Vis. Sci. Tech.. 2021; 10(2):29. doi: https://doi.org/10.1167/tvst.10.2.29

Includes: Supplemental Content

Articles February 2021

The Role of Deregulated MicroRNAs in Age-Related Macular Degeneration Pathology

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Hanan ElShelmani; Michael A. Wride; Tahira Saad; Sweta Rani; David J. Kelly; David Keegan
TAGS: exosomes, micrornas, age-related macular degeneration, pathology
Trans. Vis. Sci. Tech.. 2021; 10(2):12. doi: https://doi.org/10.1167/tvst.10.2.12

Includes: Supplemental Content

Articles February 2021

Meibography Phenotyping and Classification From Unsupervised Discriminative Feature Learning

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Chun-Hsiao Yeh; Stella X. Yu; Meng C. Lin
TAGS: learning, phenotype determination, atrophy, datasets
Trans. Vis. Sci. Tech.. 2021; 10(2):4. doi: https://doi.org/10.1167/tvst.10.2.4

Articles January 2021

Long-Term Safety Evaluation of Continuous Intraocular Delivery of Aflibercept by the Intravitreal Gene Therapy Candidate ADVM-022 in Nonhuman Primates

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Szilárd Kiss; Kristina Oresic Bender; Ruslan N. Grishanin; Kelly M. Hanna; Julio D. Nieves; Pallavi Sharma; Aivan T. Nguyen; Romeo J. Rosario; Judith S. Greengard; Claire M. Gelfman; Mehdi Gasmi
TAGS: aflibercept, anti-vascular endothelial growth factor therapy, gene therapy, safety, eye, primates, retina, vascular endothelial growth factor a
Trans. Vis. Sci. Tech.. 2021; 10(1):34. doi: https://doi.org/10.1167/tvst.10.1.34

Includes: Supplemental Content

Articles October 2020

Laser Capture Microdissection-Based RNA Microsequencing Reveals Optic Nerve Crush-Related Early mRNA Alterations in Retinal Ganglion Cell Layer

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Dongyan Pan; Mengqiao Xu; Xin Chang; Mao Xia; Yibin Fang; Yinghua Fu; Wei Shen; Yue Wang; Xiaodong Sun
TAGS: lasers, microdissection, optic nerve, rna, rna, messenger, retinal ganglion cells, genes, sequence analysis, rna
Trans. Vis. Sci. Tech.. 2020; 9(11):30. doi: https://doi.org/10.1167/tvst.9.11.30

Includes: Supplemental Content

Special Issue October 2020

Artificial Intelligence for Automated Overlay of Fundus Camera and Scanning Laser Ophthalmoscope Images

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Melina Cavichini; Cheolhong An; Dirk-Uwe G. Bartsch; Mahima Jhingan; Manuel J. Amador-Patarroyo; Christopher P. Long; Junkang Zhang; Yiqian Wang; Alison X. Chan; Samantha Madala; Truong Nguyen; William R. Freeman
TAGS: artificial intelligence, lasers, ophthalmoscopes, scanning laser ophthalmoscopy, diagnostic imaging
Trans. Vis. Sci. Tech.. 2020; 9(2):56. doi: https://doi.org/10.1167/tvst.9.2.56

Articles October 2020

Protein Composition of the Subretinal Fluid Suggests Selective Diffusion of Vitreous Proteins in Retinal Detachment

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Ebbe Toftgaard Poulsen; Xhevat Lumi; Anders K. Hansen; Jan J. Enghild; Goran Petrovski
TAGS: proteins, vitreous body, retinal detachment, proteomics
Trans. Vis. Sci. Tech.. 2020; 9(11):16. doi: https://doi.org/10.1167/tvst.9.11.16

Includes: Supplemental Content

Articles October 2020

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)

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Derek M. Waldner; Kenichi Ito; Li-Li Chen; Lisa Nguyen; Robert L. Chow; Amy Lee; Derrick E. Rancourt; Francois Tremblay; William K. Stell; N. Torben Bech-Hansen
TAGS: animals, transgenic, language morphology, mice, morphology, night blindness, congenital stationary, pax6 transcription factor, retina, transgenes, vision
Trans. Vis. Sci. Tech.. 2020; 9(11):19. doi: https://doi.org/10.1167/tvst.9.11.19

Includes: Supplemental Content

Articles October 2020

Retinal Boundary Segmentation in Stargardt Disease Optical Coherence Tomography Images Using Automated Deep Learning

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Jason Kugelman; David Alonso-Caneiro; Yi Chen; Sukanya Arunachalam; Di Huang; Natasha Vallis; Michael J. Collins; Fred K. Chen
TAGS: deep learning, optical coherence tomography, stargardt's disease, training, volume, pixel
Trans. Vis. Sci. Tech.. 2020; 9(11):12. doi: https://doi.org/10.1167/tvst.9.11.12

Includes: Supplemental Content

Articles October 2020

Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy

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Hong Yu; David W. Sant; Gaofeng Wang; John Guy
TAGS: blindness, genes, mice, mitochondrial donation, optic atrophy, hereditary, leber, optic nerve disorders, carrying, injections
Trans. Vis. Sci. Tech.. 2020; 9(11):1. doi: https://doi.org/10.1167/tvst.9.11.1

Includes: Supplemental Content

Articles September 2020

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia

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Alexandra S. Vitale; Lydia Sauer; Natalie K. Modersitzki; Paul S. Bernstein
TAGS: choroideremia, diagnostic imaging, fluorescence, ophthalmoscopy, eye, follow-up, atrophy
Trans. Vis. Sci. Tech.. 2020; 9(10):33. doi: https://doi.org/10.1167/tvst.9.10.33

Articles September 2020

Plasma Biomarkers of Reticular Pseudodrusen and the Risk of Progression to Advanced Age-Related Macular Degeneration

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Anne M. Lynch; Brandie D. Wagner; Alan G. Palestine; Nebojsa Janjic; Jennifer L. Patnaik; Marc T. Mathias; Frank S. Siringo; Naresh Mandava
TAGS: age-related macular degeneration, biological markers, plasma, proteins, proteomics, reticular pseudodrusen
Trans. Vis. Sci. Tech.. 2020; 9(10):12. doi: https://doi.org/10.1167/tvst.9.10.12

Includes: Supplemental Content

Articles September 2020

Longitudinal Changes of Macular Curvature in Patients with Retinitis Pigmentosa

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Monika Meinert; Shinji Ueno; Shiori Komori; Yoshito Koyanagi; Akira Sayo; Sten Andreasson; Taro Kominami; Yasuki Ito; Hiroko Terasaki
TAGS: eye, millon clinical multiaxial inventory, retinitis pigmentosa, shape, spectral domain-optical coherence tomography
Trans. Vis. Sci. Tech.. 2020; 9(10):11. doi: https://doi.org/10.1167/tvst.9.10.11

Special Issue September 2020

Piloting a Deep Learning Model for Predicting Nuclear BAP1 Immunohistochemical Expression of Uveal Melanoma from Hematoxylin-and-Eosin Sections

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Hongrun Zhang; Helen Kalirai; Amelia Acha-Sagredo; Xiaoyun Yang; Yalin Zheng; Sarah E. Coupland
TAGS: bap1 gene, deep learning, eosine yellowish-(ys), hematoxylin, intraocular melanoma, neoplasms, training
Trans. Vis. Sci. Tech.. 2020; 9(2):50. doi: https://doi.org/10.1167/tvst.9.2.50

Includes: Supplemental Content

Articles August 2020

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

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Ziye Rong; Xin Gong; John D. Hulleman; David R. Corey; V. Vinod Mootha
TAGS: endothelium, hereditary corneal dystrophy, rna, dna, endothelial cells
Trans. Vis. Sci. Tech.. 2020; 9(9):47. doi: https://doi.org/10.1167/tvst.9.9.47

Includes: Supplemental Content

Articles August 2020

Integrating Differential Gene Expression Analysis with Perturbagen-Response Signatures May Identify Novel Therapies for Thyroid-Associated Orbitopathy

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John Y. Lee; Ryan A. Gallo; Paul J. Ledon; Wensi Tao; David T. Tse; Daniel Pelaez; Sara T. Wester
TAGS: gene expression, molecule, thyroid, adipocytes, genes, mitoxantrone, small molecule
Trans. Vis. Sci. Tech.. 2020; 9(9):39. doi: https://doi.org/10.1167/tvst.9.9.39

Includes: Supplemental Content

Articles August 2020

Functional Analysis of Rare Genetic Variants in Complement Factor I ( CFI ) using a Serum-Based Assay in Advanced Age-related Macular Degeneration

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Anuja Java; Peter Baciu; Rafael Widjajahakim; Yun Ju Sung; Jae Yang; David Kavanagh; John Atkinson; Johanna Seddon
TAGS: age-related macular degeneration, complement factor i, cultural formulation interview, fibrinogen, genetics, inactivated c3b
Trans. Vis. Sci. Tech.. 2020; 9(9):37. doi: https://doi.org/10.1167/tvst.9.9.37

Includes: Supplemental Content

Articles August 2020

Electrophysiological and Pupillometric Abnormalities in PROM1 Cone–Rod Dystrophy

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Jason C. Park; Frederick T. Collison; Gerald A. Fishman; J. Jason McAnany
TAGS: electroretinography, passive leg raising, progressive cone-rod dystrophy, retinitis pigmentosa, luminance
Trans. Vis. Sci. Tech.. 2020; 9(9):26. doi: https://doi.org/10.1167/tvst.9.9.26

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Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1 -Associated Retinopathies

Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR -Associated Retinitis Pigmentosa

Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk

The Role of Deregulated MicroRNAs in Age-Related Macular Degeneration Pathology

Meibography Phenotyping and Classification From Unsupervised Discriminative Feature Learning

Long-Term Safety Evaluation of Continuous Intraocular Delivery of Aflibercept by the Intravitreal Gene Therapy Candidate ADVM-022 in Nonhuman Primates

Laser Capture Microdissection-Based RNA Microsequencing Reveals Optic Nerve Crush-Related Early mRNA Alterations in Retinal Ganglion Cell Layer

Artificial Intelligence for Automated Overlay of Fundus Camera and Scanning Laser Ophthalmoscope Images

Protein Composition of the Subretinal Fluid Suggests Selective Diffusion of Vitreous Proteins in Retinal Detachment

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)

Retinal Boundary Segmentation in Stargardt Disease Optical Coherence Tomography Images Using Automated Deep Learning

Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia

Plasma Biomarkers of Reticular Pseudodrusen and the Risk of Progression to Advanced Age-Related Macular Degeneration

Longitudinal Changes of Macular Curvature in Patients with Retinitis Pigmentosa

Piloting a Deep Learning Model for Predicting Nuclear BAP1 Immunohistochemical Expression of Uveal Melanoma from Hematoxylin-and-Eosin Sections

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

Integrating Differential Gene Expression Analysis with Perturbagen-Response Signatures May Identify Novel Therapies for Thyroid-Associated Orbitopathy

Functional Analysis of Rare Genetic Variants in Complement Factor I ( CFI ) using a Serum-Based Assay in Advanced Age-related Macular Degeneration

Electrophysiological and Pupillometric Abnormalities in PROM1 Cone–Rod Dystrophy

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