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Molecular Vision

Jessica L Buescher, Heithem M El-Hodiri
Purpose: The evolutionarily conserved retinal homeobox (Rax) transcription factor is essential for normal eye development in all vertebrates. Despite Rax's biologic significance, the molecular mechanisms underlying Rax molecular function as a transcriptional regulator are poorly defined. The rax gene encodes a conserved octapeptide motif (OP) near the N-terminus and several conserved regions in the C-terminus of unknown function, including the orthopedia, aristaless, rax (OAR) domain and the RX domain...
2019: Molecular Vision
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potentials (VEP). Genetic analysis was performed with a combination of whole exome sequencing (WES) and Sanger sequencing...
2019: Molecular Vision
Muhammad Rashid, Sairah Yousaf, Shakeel A Sheikh, Zureesha Sajid, Asra S Shabbir, Tasleem Kausar, Nabeela Tariq, Muhammad Usman, Rehan S Shaikh, Muhammad Ali, Shazia A Bukhari, Ali M Waryah, Muhammad Qasim, Saima Riazuddin, Zubair M Ahmed
Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype. Genomic nucleotide sequences of the CYP1B1 and LTBP2 genes were analyzed with either Sanger or whole exome sequencing...
2019: Molecular Vision
Soohyun Kim, Sara M Thomasy, Vijay Krishna Raghunathan, Leandro B C Teixeira, Ala Moshiri, Paul FitzGerald, Christopher J Murphy
Purpose: To identify the effects of a single copy deletion of Yap1 ( Yap1 +/- ) in the mouse eye, the ocular phenotypic consequences of Yap1 +/- were determined in detail. Methods: Complete ophthalmic examinations, as well as corneal esthesiometry, the phenol red thread test, intraocular pressure, and Fourier-domain optical coherence tomography were performed on Yap1 +/- and age-matched wild-type (WT) mice between eyelid opening (2 weeks after birth) and adulthood (2 months and 1 year after birth)...
2019: Molecular Vision
Jung-In Choi, Jun Kim, Se-Young Choung
Purpose: As the aging population is increasing, the incidence of age-related cataract is expected to increase globally. The surgical intervention, a treatment for cataract, still has complications and is limited to developed countries. In this study, we investigated whether the polyphenol-enriched fraction of Vaccinium uliginosum L. (FH) prevents cataract formation in Sprague-Dawley (SD) rat pups. Methods: Sixty rat pups were randomly divided into six groups: CTL, Se, FH40, FH80, FH120, and Cur80...
2019: Molecular Vision
Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P M Cremers, Mohammadreza Akhlaghi
Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and Stargardt disease (STGD1). Methods: In this study, we performed targeted next-generation sequencing based on molecular inversion probes (MIPs) that allowed the sequence analysis of 108 IRD-associated genes in 50 Iranian IRD probands...
2019: Molecular Vision
James A C Oliver, Sally L Ricketts, Markus H Kuehn, Cathryn S Mellersh
Purpose: To investigate the genetic basis of primary closed angle glaucoma (PCAG) in European Basset Hounds using genome-wide association and RNA sequencing strategies. Methods: DNA samples from 119 European Basset Hounds were genotyped on the 170 K SNP CanineHD BeadChip array (Illumina) comprising 37 with normal iridocorneal angles (controls), 57 with pectinate ligament abnormality (PLA cases), and 25 with PCAG (PCAG cases). Genome-wide association studies (GWASs) of the PLA and PCAG cases were conducted...
2019: Molecular Vision
Bärbel Rohrer, Ashley Frazer-Abel, Anthony Leonard, Rinki Ratnapriya, Tyson Ward, Alexandra Pietraszkiewicz, Elizabeth O'Quinn, Katherine Adams, Anand Swaroop, Bethany Jacobs Wolf
Purpose: Smoking and the incidence of age-related macular degeneration (AMD) have been linked to an overactive complement system. Here, we examined in a retrospective cohort study whether AMD-associated single nucleotide polymorphisms (SNPs), smoking, ethnicity, and disease status are correlated with blood complement levels. Methods: Population : The study involved 91 AMD patients and 133 controls, which included 73% Americans of European descent (EUR) and 27% Americans of African descent (AFR) in South Carolina...
2019: Molecular Vision
Qing Zhang, Micah A Chrenek, Shagun Bhatia, Alia Rashid, Salma Ferdous, Kevin J Donaldson, Henry Skelton, Wenfei Wu, Thonnie Rose O See, Yi Jiang, Nupur Dalal, John M Nickerson, Hans E Grossniklaus
Purpose: To visualize and analyze ex vivo flatmounted human RPE morphology from patients with age-related macular degeneration (AMD), and to compare the morphology with histologic findings. To establish whether the sub-RPE structures identified en face in RPE flatmount preparations are drusen with histopathological registration in serial sections. To detect characteristic patterns found en face in RPE with the same structures in histological cross sections from eyes from cadavers of patients with AMD...
2019: Molecular Vision
Tian Tian, Xiang Zhang, Qi Zhang, Peiquan Zhao
Purpose: To identify novel mutations in FZD4 and to investigate their pathogenicity in a cohort of Chinese patients with familial exudative vitreoretinopathy (FEVR). Methods: Next-generation sequencing was performed in patients with a clinical diagnosis of FEVR. Wide-field angiography was performed in probands and family members if available. Clinical data were collected from patient charts. The effect of the mutations in FZD4 on its biologic activity in the Norrin/β-catenin signaling pathway was analyzed with the luciferase reporter assay...
2019: Molecular Vision
Bavani Arumugam, Uma Devi Palanisamy, Kek Heng Chua, Umah Rani Kuppusamy
Purpose: Oxidative stress is implicated in the etiology of diabetes and its debilitating complications, such as diabetic retinopathy (DR). Various flavonoids have been reported to be useful in reducing DR progression. Myricetin derivatives (F2) isolated from leaf extract of Syzygium malaccense have the potential to serve as functional food as reported previously. The present study was performed with the aim of determining the antioxidant potential and protective effect of myricetin derivatives (F2) isolated from leaf extract of S...
2019: Molecular Vision
Hans Eiberg, Annemette F Mikkelsen, Mads Bak, Niels Tommerup, Allan M Lund, Anne Wenzel, Radhakrishnan Sabarinathan, Jan Gorodkin, Claus H Bang-Berthelsen, Lars Hansen
Purpose: To identify the mutation for Volkmann cataract ( CTRCT8 ) at 1p36.33. Methods: The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNPs) were identified for linkage analysis. Expression analysis with reverse transcription polymerase chain reaction (RT-PCR) of the candidate gene was performed using RNA from different human tissues. Quantitative transcription polymerase chain reaction (qRT-PCR) analysis of the GNB1 gene was performed in affected and healthy individuals...
2019: Molecular Vision
Xiaoqiang Xiao, Yingjie Cao, Shaowan Chen, Min Chen, Xiaoting Mai, Yuqian Zheng, Xi Zhuang, Tsz Kin Ng, Haoyu Chen
Purpose: Retinitis pigmentosa (RP) belongs to a group of inherited retinal diseases with high genetic heterogeneity. This study aimed at identifying the disease-causing variants in patients with autosomal recessive RP. Methods: Three RP families with autosomal recessive inheritance and 139 sporadic RP patients were included. Complete ophthalmic examinations were conducted in all the study subjects. DNA samples were extracted from patients' peripheral blood for whole exome sequencing (WES) analysis...
2019: Molecular Vision
JeongGoo Lee, Eric Jung, Martin Heur
Purpose: To determine whether the mouse corneal endothelium enters endothelial to mesenchymal transition (EndoMT) following surgical injury in vivo. Methods: The corneal endothelium in anesthetized mice was surgically injured in vivo under direct visualization. The secretion of interleukin-1 beta (IL-1β) and fibroblast growth factor 2 (FGF2) into the aqueous humor was analyzed with western blotting. The expression of FGF2 , Snai1 , Zeb1 , Col1a1 , Col1a2 , Fn1 , Vim , Cdk2 , Ccne1 , and Cdh1 was analyzed with semiquantitative RT-PCR in the mouse corneal endothelium ex vivo and in vivo...
2019: Molecular Vision
Jose Ignacio Recalde, Juan Antonio Duran, Iñaki Rodriguez-Agirretxe, Javier Soria, Miguel Angel Sanchez-Tena, Xandra Pereiro, Tatiana Suarez, Arantxa Acera
Purpose: The purpose of this work was to analyze the expressions of matrix metalloproteinase 9 (MMP-9), calcyclin (S100A6), and cystatin S (CST4) in the tears of keratoconus (KC) patients. The correlations between the expressions of these proteins and the values of various ocular surface parameters were examined after accelerated corneal crosslinking (A-CXL) with pulsed ultraviolet light. Methods: This prospective, observational study enrolled patients with different grades of KC, scheduled to undergo the A-CXL procedure, as well as healthy subjects...
2019: Molecular Vision
Xia Li, Yiqin Dai, Jianjiang Xu
Purpose: To evaluate the effect of the overexpression of miR-21 on the properties of pterygium and examine whether miR-21 promotes the proliferation of pterygium cells through targeting the PTEN/AKT signaling pathway. Methods: Information regarding patient gender, age, and pterygium severity was gathered. Expression of miR-21 was obtained through examination of excised pterygium tissues and superior conjunctiva tissues with real-time PCR. Human pterygium fibroblasts (HPFs) were obtained from pterygium surgery and subjected to primary culture...
2018: Molecular Vision
Ashik Mohamed, Robert C Augusteyn
Purpose: To evaluate the changes with age in human lens wet and dry weights. Methods: All procedures were performed by the same person in the same environment. Lenses were extracted from donor eyes within a median post-mortem time of 22 h, blotted dry and weighed within 30 min, immediately placed in fixative for 1 week, and then dried at 80 °C until a constant weight was achieved. Results: Wet and dry lens weights were obtained from 549 human lenses...
2018: Molecular Vision
Michael A Simmons, Alexander V Cheng, Silke Becker, Richard D Gerkin, M Elizabeth Hartnett
Purpose: The aim of this study was to create an algorithm to automate, accelerate, and standardize the process of avascular area segmentation in images from a rat oxygen-induced retinopathy (OIR) model. Methods: Within 6 h of birth, full-term pups born to Sprague Dawley rat dams that had undergone partial bilateral uterine artery ligation at embryonic day 19.5 were placed into a controlled oxygen environment (Oxycycler, BioSpherix, Parish, NY) at 50% oxygen for 48 h, followed by cycling between 10% and 50% oxygen every 24 h until day 15...
2018: Molecular Vision
Ştefan Ţălu, Vivian M Sueiras, Vincent T Moy, Noël M Ziebarth
PURPOSE: This study aimed to quantify the three-dimensional micromorphology of the surface of the human lens capsule as a function of age. METHODS: Imaging experiments were conducted on whole human lenses received from eight human cadavers (donor age range: 30-88 years). Imaging was performed with an atomic force microscope (AFM) in contact mode in fluid. The porosity and surface roughness were quantified from the height images obtained. A novel approach, based on stereometric and fractal analysis of three-dimensional surfaces developed for use in conjunction with AFM data, was also used to analyze the surface microtexture as a function of age...
2018: Molecular Vision
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