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Optic cup development

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https://www.readbyqxmd.com/read/28073927/new-insights-into-the-genetics-of-primary-open-angle-glaucoma-based-on-meta-analyses-of-intraocular-pressure-and-optic-disc-characteristics
#1
Henriët Springelkamp, Adriana I Iglesias, Aniket Mishra, René Höhn, Robert Wojciechowski, Anthony P Khawaja, Abhishek Nag, Ya Xing Wang, Jie Jin Wang, Gabriel Cuellar-Partida, Jane Gibson, Jessica N Cooke Bailey, Eranga N Vithana, Puya Gharahkhani, Thibaud Boutin, Wishal D Ramdas, Tanja Zeller, Robert N Luben, Ekaterina Yonova-Doing, Ananth C Viswanathan, Seyhan Yazar, Angela J Cree, Jonathan L Haines, Jia Yu Koh, Emmanuelle Souzeau, James F Wilson, Najaf Amin, Christian Müller, Cristina Venturini, Lisa S Kearns, Jae Hee Kang, Neighborhood Consortium, Yih Chung Tham, Tiger Zhou, Elisabeth M van Leeuwen, Stefan Nickels, Paul Sanfilippo, Jiemin Liao, Herma van der Linde, Wanting Zhao, Leonieke M E van Koolwijk, Li Zheng, Fernando Rivadeneira, Mani Baskaran, Sven J van der Lee, Shamira Perera, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Qiao Fan, Albert Hofman, E- Shyong Tai, Johannes R Vingerling, Xueling Sim, Roger C W Wolfs, Yik Ying Teo, Hans G Lemij, Chiea Chuen Khor, Rob Willemsen, Karl J Lackner, Tin Aung, Nomdo M Jansonius, Grant Montgomery, Philipp S Wild, Terri L Young, Kathryn P Burdon, Pirro G Hysi, Louis R Pasquale, Tien Yin Wong, Caroline C W Klaver, Alex W Hewitt, Jost B Jonas, Paul Mitchell, Andrew J Lotery, Paul J Foster, Veronique Vitart, Norbert Pfeiffer, Jamie E Craig, David A Mackey, Christopher J Hammond, Janey L Wiggs, Ching-Yu Cheng, Cornelia M van Duijn, Stuart MacGregor
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup disc ratio (VCDR) and 1 new region associated with IOP...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28040609/in-situ-observation-of-lubricant-film-formation-in-thr-considering-real-conformity-the-effect-of-diameter-clearance-and-material
#2
D Nečas, M Vrbka, F Urban, J Gallo, I Křupka, M Hartl
The aim of the present study is to provide an analysis of protein film formation in hip joint replacements considering real conformity based on in situ observation of the contact zone. The main attention is focused on the effect of implant nominal diameter, diametric clearance and material. For this purpose, a pendulum hip joint simulator equipped with electromagnetic motors enabling to apply continuous swinging flexion-extension motion was employed. The experimental configuration consists of femoral component (CoCrMo, BIOLOX®forte, BIOLOX®delta) and acetabular cup from optical glass fabricated according to the dimensions of real cups...
December 23, 2016: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28003733/mmp19-expression-in-the-human-optic-nerve
#3
Kathleen R Chirco, Ralph J Hazlewood, Kathy Miller, Grefachew Workalemahu, Lee M Jampol, G Robert Lesser, Robert F Mullins, Markus H Kuehn, John H Fingert
PURPOSE: The defining feature of glaucoma is excavation of the optic nerve head; however, the mechanism of this loss of tissue is not well understood. We recently discovered a copy number variation upstream of matrix metalloproteinase 19 (MMP19) in a large, autosomal dominant pedigree with a congenital malformation of the optic disc called cavitary optic disc anomaly (CODA). Patients with CODA have abnormal optic discs that exhibit an excavated shape similar to cupping seen in glaucoma...
2016: Molecular Vision
https://www.readbyqxmd.com/read/28003731/a-regulatory-sequence-from-the-retinoid-x-receptor-%C3%AE-gene-directs-expression-to-horizontal-cells-and-photoreceptors-in-the-embryonic-chicken-retina
#4
Maria K E Blixt, Finn Hallböök
PURPOSE: Combining techniques of episomal vector gene-specific Cre expression and genomic integration using the piggyBac transposon system enables studies of gene expression-specific cell lineage tracing in the chicken retina. In this work, we aimed to target the retinal horizontal cell progenitors. METHODS: A 208 bp gene regulatory sequence from the chicken retinoid X receptor γgene (RXRγ208) was used to drive Cre expression. RXRγ is expressed in progenitors and photoreceptors during development...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27965955/wnt-%C3%AE-catenin-signaling-in-vertebrate-eye-development
#5
REVIEW
Naoko Fujimura
The vertebrate eye is a highly specialized sensory organ, which is derived from the anterior neural plate, head surface ectoderm, and neural crest-derived mesenchyme. The single central eye field, generated from the anterior neural plate, divides to give rise to the optic vesicle, which evaginates toward the head surface ectoderm. Subsequently, the surface ectoderm, in conjunction with the optic vesicle invaginates to form the lens vesicle and double-layered optic cup, respectively. This complex process is controlled by transcription factors and several intracellular and extracellular signaling pathways including WNT/β-catenin signaling...
2016: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/27920583/intellijoint-hip-%C3%A2-a-3d-mini-optical-navigation-tool-for-improving-intraoperative-accuracy-during-total-hip-arthroplasty
#6
Wayne G Paprosky, Jeffrey M Muir
Total hip arthroplasty is an increasingly common procedure used to address degenerative changes in the hip joint due to osteoarthritis. Although generally associated with good results, among the challenges associated with hip arthroplasty are accurate measurement of biomechanical parameters such as leg length, offset, and cup position, discrepancies of which can lead to significant long-term consequences such as pain, instability, neurological deficits, dislocation, and revision surgery, as well as patient dissatisfaction and, increasingly, litigation...
2016: Medical Devices: Evidence and Research
https://www.readbyqxmd.com/read/27914989/transcriptome-analysis-of-adult-and-fetal-trabecular-meshwork-cornea-and-ciliary-body-tissues-by-rna-sequencing
#7
Megan Ulmer Carnes, R Rand Allingham, Allison Ashley-Koch, Michael A Hauser
PURPOSE: To characterize the transcriptional landscape of human adult and fetal trabecular meshwork (TM), cornea, and ciliary body (CB) tissues, and to evaluate the expression level of candidate genes selected from genetic association studies of primary-open angle glaucoma, central corneal thickness, intraocular pressure, vertical cup to disc ratio, and optic nerve parameters. METHODS: Deep RNA sequencing was performed on the selected human tissues. Transcriptome analyses were performed to 1) characterize the total number of expressed genes, 2) identify the most highly expressed genes, 3) estimate the number of novel transcripts, and 4) evaluate the expression of candidate genes in each tissue...
November 30, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27898470/lamina-cribrosa-in-glaucoma
#8
J Crawford Downs, Christopher A Girkin
PURPOSE OF REVIEW: This article presents, summarizes, and interprets the most recent advances in the study and understanding of the lamina cribrosa in glaucoma, in the context of previous work. RECENT FINDINGS: The lamina is an active living structure that responds to strain by changing morphology at the micro-scale and macro-scale in glaucoma. Changes in lamina cribrosa morphology in glaucoma include posteriorization of the laminar insertion into the sclera, increased cupping or depth of the lamina cribrosa, and the development of focal lamina cribrosa defects...
November 25, 2016: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/27889058/mutations-in-reep6-cause-autosomal-recessive-retinitis-pigmentosa
#9
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren J Carss, Alessia Fiorentino, Matthew J Hayes, Peter M Munro, Ralph Nicols, Nikolas Pontikos, Graham E Holder, Chinwe Asomugha, F Lucy Raymond, Anthony T Moore, Vincent Plagnol, Michel Michaelides, Alison J Hardcastle, Yumei Li, Catherine Cukras, Andrew R Webster, Michael E Cheetham, Rui Chen
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27857326/developing-a-trend-prediction-model-of-subsurface-damage-for-fixed-abrasive-grinding-of-optics-by-cup-wheels
#10
Zhichao Dong, Haobo Cheng
Fixed-abrasive grinding by cup wheels plays an important role in the production of precision optics. During cup wheel grinding, we strive for a large removal rate while maintaining fine integrity on the surface and subsurface layers (academically recognized as surface roughness and subsurface damage, respectively). This study develops a theoretical model used to predict the trend of subsurface damage of optics (with respect to various grinding parameters) in fixed-abrasive grinding by cup wheels. It is derived from the maximum undeformed chip thickness model, and it successfully correlates the pivotal parameters of cup wheel grinding with the subsurface damage depth...
November 10, 2016: Applied Optics
https://www.readbyqxmd.com/read/27846047/optic-nerve-head-histopathology-in-high-axial-myopia
#11
Jost B Jonas, Kyoko Ohno-Matsui, Songhomitra Panda-Jonas
PURPOSE: To describe particularities of the optic nerve head of axially highly myopic eyes. METHODS: Measurements were obtained from enucleated globes and from population-based studies. RESULTS: Morphologic optic disc particularities in high axial myopia included enlarged disc size (secondary macrodisc), widening and temporal translocation of the papillary Bruch's membrane (BM) opening, parapapillary gamma and delta zone, elongation and thinning of lamina cribrosa and peripapillary scleral flange, steeper translamina cribrosa pressure gradient, decreased peripapillary choroid thickness, longer distance between peripapillary arterial circle and optic disc, optic cup flattening, presumably a stretching of the lamina cribrosa pores, and peripapillary intrachoroidal cavitations...
November 11, 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27844144/identification-and-functional-characterisation-of-genetic-variants-in-olfm2-in-children-with-developmental-eye-disorders
#12
R Holt, S A Ugur Iseri, A W Wyatt, D A Bax, D Gold Diaz, C Santos, S Broadgate, R Dunn, J Bruty, Y Wallis, D McMullan, C Ogilvie, D Gerrelli, Y Zhang, Nicola Ragge
Anophthalmia, microphthalmia, and coloboma are a genetically heterogeneous spectrum of developmental eye disorders and affect around 30 per 100,000 live births. OLFM2 encodes a secreted glycoprotein belonging to the noelin family of olfactomedin domain-containing proteins that modulate the timing of neuronal differentiation during development. OLFM2 SNPs have been associated with open angle glaucoma in a case-control study, and knockdown of Olfm2 in zebrafish results in reduced eye size. From a cohort of 258 individuals with developmental eye anomalies, we identified two with heterozygous variants in OLFM2: an individual with bilateral microphthalmia carrying a de novo 19p13...
January 2017: Human Genetics
https://www.readbyqxmd.com/read/27832941/thirteen-year-follow-up-of-optic-disc-hemorrhages-in-the-ocular-hypertension-treatment-study
#13
Donald L Budenz, Julia Beiser Huecker, Steven J Gedde, Mae Gordon, Michael Kass
PURPOSE: To determine the cumulative incidence of optic disc hemorrhage (ODH) before and after development of primary open angle glaucoma (POAG); determine the prognostic significance of ODH for the development of POAG; identify predictive factors for ODH. DESIGN: Prospective cohort study. METHODS: ODHs were evaluated in 3,236 eyes of 1618 Ocular Hypertension Treatment Study (OHTS) participants annually using stereoscopic optic disc photographs...
November 7, 2016: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/27784063/a-novel-method-combining-vitreous-aspiration-and-intravitreal-aav2-8-injection-results-in-retina-wide-transduction-in-adult-mice
#14
Romain Da Costa, Carsten Röger, Jasmin Segelken, Maya Barben, Christian Grimm, John Neidhardt
Purpose: Gene therapies to treat eye disorders have been extensively studied in the past 20 years. Frequently, adeno-associated viruses were applied to the subretinal or intravitreal space of the eye to transduce retinal cells with nucleotide sequences of therapeutic potential. In this study we describe a novel intravitreal injection procedure that leads to a reproducible adeno-associated virus (AAV)2/8-mediated transduction of more than 70% of the retina. Methods: Prior to a single intravitreal injection of a enhanced green fluorescent protien (GFP)-expressing viral suspension, we performed an aspiration of vitreous tissue from wild-type C57Bl/6J mice...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27765579/antisera-against-neisseria-gonorrhoeae-cross-react-with-specific-brain-proteins-of-the-common-marmoset-monkey-and-other-nonhuman-primate-species
#15
Bernhard Reuss, Abdul R Asif, Abdullah Almamy, Christian Schwerk, Horst Schroten, Hiroshi Ishikawa, Charis Drummer, Rüdiger Behr
Prenatal maternal infections with Neisseria gonorrhoeae (NG) correlate with an increased lifetime probability for the offspring to develop psychosis. We could previously demonstrate that in human choroid plexus papilloma cells, anti-NG antibodies (α-NG) bind to mitochondrial proteins HSP60 and ATPB, and interfere with cellular energy metabolism. To assess the in vivo relevance for this, especially during prenatal neural development, we investigated here interactions of NG-specific antisera (α-NG1, α-NG2) with brain, choroid plexus and other non-neural tissues in pre- and perinatal samples of the nonhuman primate (NHP) Callithrix jacchus (CJ), a NHP model for preclinical research...
October 17, 2016: Brain Research
https://www.readbyqxmd.com/read/27701636/loss-of-axin2-causes-ocular-defects-during-mouse-eye-development
#16
Ashley Alldredge, Sabine Fuhrmann
Purpose: The scaffold protein Axin2 is an antagonist and universal target of the Wnt/β-catenin pathway. Disruption of Axin2 may lead to developmental eye defects; however, this has not been examined. The purpose of this study was to investigate the role of Axin2 during ocular and extraocular development in mouse. Methods: Animals heterozygous and homozygous for a Axin2lacZ knock-in allele were analyzed at different developmental stages for reporter expression, morphology as well as for the presence of ocular and extraocular markers using histologic and immunohistochemical techniques...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27682504/optic-nerve-head-slope-based-quantitative-parameters-for-identifying-open-angle-glaucoma-on-spectralis-oct-images
#17
Abdel-Razzak M Al-Hinnawi, Bassam O Al-Naami, Motasem M Al-Latayfeh
PURPOSE: To investigate monitoring slope-based features of the optic nerve head (ONH) cup as open-angle glaucoma (OAG) occurs. METHOD: A dataset of 46 retrospective OCT cases was acquired from the SPECTRALIS Heidelberg Engineering OCT device. A set of five parameters, which are based on the ONH cup-incline, are measured on the OAG and normal subjects in the dataset. Then, three new ONH cup-shape indices were deduced. The ONH cup-incline parameters and ONH cup-shape indices are analyzed to estimate their clinical value...
September 28, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27667917/three-dimensional-retinal-organoids-from-mouse-pluripotent-stem-cells-mimic-in-vivo-development-with-enhanced-stratification-and-rod-photoreceptor-differentiation
#18
Holly Yu Chen, Koray Dogan Kaya, Lijin Dong, Anand Swaroop
PURPOSE: The generation of three-dimensional (3D) organoids with optic cup-like structures from pluripotent stem cells has created opportunities for investigating mammalian retinal development in vitro. However, retinal organoids in culture do not completely reflect the developmental state and in vivo architecture of the rod-dominant mouse retina. The goals of this study were to develop an efficient protocol for generating retinal organoids from stem cells and examine the morphogenesis of rods in vitro...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27633992/emergence-of-dorsal-ventral-polarity-in-esc-derived-retinal-tissue
#19
Yuiko Hasegawa, Nozomu Takata, Satoru Okuda, Masako Kawada, Mototsugu Eiraku, Yoshiki Sasai
We previously demonstrated that mouse embryonic stem cell (mESC)-derived retinal epithelium self-forms an optic cup-like structure. In the developing retina, the dorsal and ventral sides differ in terms of local gene expression and morphological features. This aspect has not yet been shown in vitro Here, we demonstrate that mESC-derived retinal tissue spontaneously acquires polarity reminiscent of the dorsal-ventral (D-V) patterning of the embryonic retina. Tbx5 and Vax2 were expressed in a mutually exclusive manner, as seen in vivo Three-dimensional morphometric analysis showed that the in vitro-formed optic cup often contains cleft structures resembling the embryonic optic fissure...
November 1, 2016: Development
https://www.readbyqxmd.com/read/27559242/effect-of-methotrexate-exposure-at-middle-gestation-on-the-inner-plate-of-the-ocular-cup-and-lens-in-the-rat-fetus
#20
Cheng Zhe Zu, Masato Kuroki, Ayano Hirako, Takashi Takeuchi, Satoshi Furukawa, Akihiko Sugiyama
Pregnant rats were treated intraperitoneally with a single dose of methotrexate (MTX) 90 mg/kg on gestation day (GD) 13, and fetal eyeballs were examined time-dependently from GD 13.5 to 15.5. Throughout the experimental period, the inner plate of the ocular cup in the MTX group was significantly thinner than that in the control group. In the inner plate of the ocular cup on GD 15 and 15.5, whereas a developed ganglion cell layer was observed in the control group, the ganglion cell layer in the MTX group was undeveloped and indistinguishable...
July 2016: Journal of Toxicologic Pathology
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