Genetics

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Special Issue May 2017

Omics Biomarkers in Ophthalmology

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Susette Lauwen; Eiko K. de Jong; Dirk J. Lefeber; Anneke I. den Hollander
TAGS: glaucoma, biological markers, eye diseases, genome, myopia, ophthalmology, genetics, proteins
Invest. Ophthalmol. Vis. Sci.. 2017; 58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809

Includes: Supplemental Content

Lens May 2017

Transcriptome of the GSH-Depleted Lens Reveals Changes in Detoxification and EMT Signaling Genes, Transport Systems, and Lipid Homeostasis

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Jeremy A. Whitson; Xiang Zhang; Mario Medvedovic; Jenny Chen; Zongbo Wei; Vincent M. Monnier; Xingjun Fan
TAGS: signal transduction, genes, lens, crystalline, lens (device), epithelial to mesenchymal transition
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2666-2684. doi: 10.1167/iovs.16-21398

Includes: Supplemental Content

Retina May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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Samuel G. Jacobson; Artur V. Cideciyan; Alexander Sumaroka; Alejandro J. Roman; Jason Charng; Monica Lu; Windy Choi; Rebecca Sheplock; Malgorzata Swider; Mychajlo S. Kosyk; Sharon B. Schwartz; Edwin M. Stone; Gerald A. Fishman
TAGS: mutation, cohort studies, genes, introns, questionnaires, vision, diagnostic imaging, eye, leber's amaurosis, measures of outcome
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2609-2622. doi: 10.1167/iovs.17-21560

Includes: Supplemental Content

Cornea May 2017

Fibroblast Growth Factor Receptor 2 (FGFR2) Is Required for Meibomian Gland Homeostasis in the Adult Mouse

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Lixing W. Reneker; Lanlan Wang; Rebecca T. Irlmeier; Andrew J. W. Huang
TAGS: homeostasis, adult, atrophy, meibomian gland, fibroblast growth factor receptors, mice, fgfr2 gene
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2638-2646. doi: 10.1167/iovs.16-21204

Includes: Supplemental Content

Article May 2017

Possible role for recurrent interactions between expansion and contraction cells in MSTd during self-motion perception in dynamic environments

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Oliver W. Layton; Brett R. Fajen
TAGS: frontotemporal dementia, motion, perception, recurrence, mapt gene
Journal of Vision. 2017; 17(5):5. doi: 10.1167/17.5.5

Anatomy and Pathology/Oncology May 2017

Flexible Optical Waveguides for Uniform Periscleral Cross-Linking

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Sheldon J. J. Kwok; Moonseok Kim; Harvey H. Lin; Theo G. Seiler; Eric Beck; Peng Shao; Irene E. Kochevar; Theo Seiler; Seok-Hyun Yun
TAGS: elastomers, optics, body tissue, eye, riboflavin, sclera, cross-linking
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2596-2602. doi: 10.1167/iovs.17-21559

Includes: Supplemental Content

Genetics May 2017

Mutations in LRP5 , FZD4 , TSPAN12 , NDP , ZNF408 , or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

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Feng-Qin Rao; Xue-Bi Cai; Fei-Fei Cheng; Wan Cheng; Xiao-Long Fang; Na Li; Xiu-Feng Huang; Li-Hong Li; Zi-Bing Jin
TAGS: mutation, genes, genetics, chinese people, chinese (other dialects), familial exudative vitreoretinopathy
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2623-2629. doi: 10.1167/iovs.16-21324

Includes: Supplemental Content

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: mutation, family, genes, homozygote, autosomal recessive inheritance, genetic analysis, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: 10.1167/iovs.17-21424

Includes: Supplemental Content

Articles May 2017

Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L / M Opsin Interchange Mutations

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Scott H. Greenwald; James A. Kuchenbecker; Jessica S. Rowlan; Jay Neitz; Maureen Neitz
TAGS: mutation, amino acids, retinal cone, exons, genes, myopia, opsin, rna splicing, mice, cone dystrophy
Trans. Vis. Sci. Tech.. 2017; 6(3):2. doi: 10.1167/tvst.6.3.2

Clinical and Epidemiologic Research May 2017

Radiologic Parameters of Orbital Bone Remodeling in Thyroid Eye Disease

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Nicholas Y. Q. Tan; Yuan-Yuh Leong; Stephanie S. Lang; Zin M. Htoon; Stephanie M. Young; Gangadhara Sundar
TAGS: computed tomography, graves' ophthalmopathy, muscle of orbit, orbit, radiology specialty, zygomatic bone, medial rectus muscle, volume
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2527-2533. doi: 10.1167/iovs.16-21035

Retina May 2017

Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa

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Kohta Fujiwara; Yasuhiro Ikeda; Yusuke Murakami; Jun Funatsu; Shunji Nakatake; Takashi Tachibana; Noriko Yoshida; Shintaro Nakao; Toshio Hisatomi; Shigeo Yoshida; Takeshi Yoshitomi; Tatsuro Ishibashi; Koh-Hei Sonoda
TAGS: retinitis pigmentosa, risk factors, cataract, subcapsular
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2534-2537. doi: 10.1167/iovs.17-21612

Special Issue May 2017

CRISPR/Cas9–Mediated Mutation of αA-Crystallin Gene Induces Congenital Cataracts in Rabbits

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Lin Yuan; Haobin Yao; Yuxin Xu; Mao Chen; Jichao Deng; Yuning Song; Tingting Sui; Yong Wang; Yongye Huang; Zhanjun Li; Liangxue Lai
TAGS: phenotype, mutation, crystallins, genes, lens (device), oryctolagus cuniculus, congenital cataract, crispr
Invest. Ophthalmol. Vis. Sci.. 2017; 58(6):BIO34-BIO41. doi: 10.1167/iovs.16-21287

Glaucoma May 2017

Association of Glaucoma-Susceptible Genes to Regional Circumpapillary Retinal Nerve Fiber Layer Thickness and Visual Field Defects

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Munemitsu Yoshikawa; Hideo Nakanishi; Kenji Yamashiro; Masahiro Miyake; Tadamichi Akagi; Norimoto Gotoh; Hanako O. Ikeda; Kenji Suda; Hiroshi Yamada; Tomoko Hasegawa; Yuto Iida; Ryo Yamada; Fumihiko Matsuda; Nagahisa Yoshimura; for the Nagahama Study Group
TAGS: glaucoma, genes, open-angle glaucoma, single nucleotide polymorphism, scotoma, eye, visual field defects, retinal nerve fiber layer
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2510-2519. doi: 10.1167/iovs.16-20797

Includes: Supplemental Content

Retinal Cell Biology May 2017

Tumor Necrosis Factor Alpha (TNF-α) Disrupts Kir4.1 Channel Expression Resulting in Müller Cell Dysfunction in the Retina

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Iraj Hassan; Qianyi Luo; Sreeparna Majumdar; James M. Dominguez, II; Julia V. Busik; Ashay D. Bhatwadekar
TAGS: tumor necrosis factors, diabetes mellitus, circadian rhythms, proteins, retina, pathophysiology, tumor necrosis factor-alpha, kcnj10 gene
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2473-2482. doi: 10.1167/iovs.16-20712

Genetics May 2017

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration

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Rachayata Dharmat; Wei Liu; Zhongqi Ge; Zixi Sun; Lizhu Yang; Yumei Li; Keqing Wang; Kandace Thomas; Ruifang Sui; Rui Chen
TAGS: alleles, phenotype, mutation, genes, retinal degeneration, rna, messenger, zebrafish, proteins, proband, ciliopathies, candidate disease gene, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2483-2490. doi: 10.1167/iovs.16-19133

Includes: Supplemental Content

Immunology and Microbiology May 2017

Role of Pattern Recognition Receptors in the Modulation of Antimicrobial Peptide Expression in the Corneal Epithelial Innate Response to F. solani

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Satya Sree Kolar; Hasna Baidouri; Alison M. McDermott
TAGS: antifungal agent, epithelium, bodily secretions, densitometry, heat (physical force), immunoblotting, peptides, porcine reproductive and respiratory syndrome, rna, messenger, up-regulation (physiology), zymosan, antibodies, cornea, proteins, antimicrobials, rna, small interfering, ll-37 peptide, pattern recognition receptors, clec7a gene, corneal epithelial cell, pathogen-associated molecular pattern molecules, defb4 gene, toll-like receptor 2
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2463-2472. doi: 10.1167/iovs.16-20658

Genetics April 2017

Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes

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Worapoj Jinda; Todd D. Taylor; Yutaka Suzuki; Wanna Thongnoppakhun; Chanin Limwongse; Patcharee Lertrit; Adisak Trinavarat; La-Ongsri Atchaneeyasakul
TAGS: mutation, genes, leber's amaurosis, thai, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2413-2420. doi: 10.1167/iovs.16-21322

Glaucoma April 2017

Molecular Mechanisms Underlying the Filtration Bleb-Maintaining Effects of Suberoylanilide Hydroxamic Acid (SAHA)

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Akiko Futakuchi; Toshihiro Inoue; Tomokazu Fujimoto; Utako Kuroda; Miyuki Inoue-Mochita; Eri Takahashi; Saori Ohira; Hidenobu Tanihara
TAGS: filtration, blister, vorinostat
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2421-2429. doi: 10.1167/iovs.16-21403

Lens April 2017

Multiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant

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Kyle W. Roskamp; David M. Montelongo; Chelsea D. Anorma; Diana N. Bandak; Janine A. Chua; Kurtis T. Malecha; Rachel W. Martin
TAGS: fluorescence, ultraviolet rays, proteins, ultraviolet a radiation, thioflavin t, crystallins, x-ray diffraction
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2397-2405. doi: 10.1167/iovs.16-20621

Includes: Supplemental Content

Physiology and Pharmacology April 2017

The Eye Drop Preservative Benzalkonium Chloride Potently Induces Mitochondrial Dysfunction and Preferentially Affects LHON Mutant Cells

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Sandipan Datta; Christophe Baudouin; Francoise Brignole-Baudouin; Alexandre Denoyer; Gino A. Cortopassi
TAGS: mitochondria, eyedrops, pathophysiology, benzalkonium chloride, optic atrophy, hereditary, leber
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2406-2412. doi: 10.1167/iovs.16-20903

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Omics Biomarkers in Ophthalmology

Transcriptome of the GSH-Depleted Lens Reveals Changes in Detoxification and EMT Signaling Genes, Transport Systems, and Lipid Homeostasis

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

Fibroblast Growth Factor Receptor 2 (FGFR2) Is Required for Meibomian Gland Homeostasis in the Adult Mouse

Possible role for recurrent interactions between expansion and contraction cells in MSTd during self-motion perception in dynamic environments

Flexible Optical Waveguides for Uniform Periscleral Cross-Linking

Mutations in LRP5 , FZD4 , TSPAN12 , NDP , ZNF408 , or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L / M Opsin Interchange Mutations

Radiologic Parameters of Orbital Bone Remodeling in Thyroid Eye Disease

Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa

CRISPR/Cas9–Mediated Mutation of αA-Crystallin Gene Induces Congenital Cataracts in Rabbits

Association of Glaucoma-Susceptible Genes to Regional Circumpapillary Retinal Nerve Fiber Layer Thickness and Visual Field Defects

Tumor Necrosis Factor Alpha (TNF-α) Disrupts Kir4.1 Channel Expression Resulting in Müller Cell Dysfunction in the Retina

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration

Role of Pattern Recognition Receptors in the Modulation of Antimicrobial Peptide Expression in the Corneal Epithelial Innate Response to F. solani

Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes

Molecular Mechanisms Underlying the Filtration Bleb-Maintaining Effects of Suberoylanilide Hydroxamic Acid (SAHA)

Multiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant

The Eye Drop Preservative Benzalkonium Chloride Potently Induces Mitochondrial Dysfunction and Preferentially Affects LHON Mutant Cells

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