3,561 results match your criteria Molecular Vision [Journal]


Spectrum of mutations in the gene in Vietnamese patients with retinoblastoma.

Mol Vis 2019 4;25:215-221. Epub 2019 Apr 4.

Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Purpose: Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of the gene. Early diagnosis and identification of carriers of heritable mutations in can improve disease outcome and management. In this study, we present the spectrum of mutations in the gene in Vietnamese patients with RB. Read More

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Seven novel variants expand the spectrum of related Leber congenital amaurosis in the Chinese population.

Mol Vis 2019 18;25:204-214. Epub 2019 Mar 18.

Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.

Purpose: To screen in 187 families with Leber congenital amaurosis (LCA).

Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the gene, and intrafamilial cosegregation analysis if DNA was available. In silico analyses and splicing assay were used to evaluate the variants' pathogenicity. Read More

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Reliability and reproducibility of a rodent model of choroidal neovascularization based on the subretinal injection of polyethylene glycol.

Mol Vis 2019 18;25:194-203. Epub 2019 Mar 18.

Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain.

Purpose: To evaluate the reliability and reproducibility of a rodent choroidal neovascularization (CNV) model by subretinal injection of polyethylene glycol (PEG).

Methods: C57BL/6 mice were injected subretinally with 2 μl PBS (Gibco, Invitrogen, Paisley, UK; n=14) or PEG (1 mg; n=18). Animals were sacrificed at either 0, 5, 14 or 21 days. Read More

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Differential stability of variant gene transcripts in myopic patients.

Mol Vis 2019 17;25:183-193. Epub 2019 Mar 17.

Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, WA, Australia.

Purpose: In Bornholm eye disease, a defect in the splicing of transcripts from a variant opsin gene leads to a depletion in spliced transcript levels and, consequently, a reduction in photopigment in photoreceptors expressing the variant gene.

Methods: Myopic and age-matched control subjects were drawn from the Western Australian Pregnancy Cohort (Raine) Study and the Norfolk Island Eye Study groups. The opsin gene was amplified using long-range PCR methodology and was fully sequenced. Read More

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Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.

Mol Vis 2019 16;25:174-182. Epub 2019 Mar 16.

Menzies Institute for Medical Research, University of Tasmania, Tasmania, Australia.

Purpose: To evaluate the efficacy of using a CRISPR/Cas-mediated strategy to correct a common high-risk allele that is associated with age-related macular degeneration (AMD; rs1061170; NM_000186.3:c.1204T>C; NP_000177. Read More

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MiR-21 promotes pterygium cell proliferation through the PTEN/AKT pathway.

Mol Vis 2018 23;24:485-494. Epub 2018 Jul 23.

Department of Ophthalmology and Visual Science, Shanghai Medical College, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416795PMC
July 2018
1 Read

The C-terminus of the gene product modulates transcription in a context-dependent manner.

Mol Vis 2019 23;25:165-173. Epub 2019 Feb 23.

Center for Molecular and Human Genetics, Nationwide Children's Research Institute, Columbus, OH.

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 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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386513PMC
February 2019
2 Reads

A novel intronic mutation of is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Mol Vis 2019 22;25:155-164. Epub 2019 Feb 22.

Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386512PMC
February 2019
16 Reads

Identities and frequencies of variants in causing primary congenital glaucoma in Pakistan.

Mol Vis 2019 22;25:144-154. Epub 2019 Feb 22.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386514PMC
February 2019
1 Read
1.986 Impact Factor

Ocular phenotypic consequences of a single copy deletion of the gene () in mice.

Mol Vis 2019 17;25:129-142. Epub 2019 Feb 17.

Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA.

Purpose: To identify the effects of a single copy deletion of () in the mouse eye, the ocular phenotypic consequences of 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 and age-matched wild-type (WT) mice between eyelid opening (2 weeks after birth) and adulthood (2 months and 1 year after birth). Following euthanasia, enucleated eyes were characterized histologically. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382475PMC
February 2019
1 Read

Polyphenol-enriched fraction of L. protects selenite-induced cataract formation in the lens of Sprague-Dawley rat pups.

Mol Vis 2019 8;25:118-128. Epub 2019 Feb 8.

College of Pharmacy, Kyung Hee University, Kyung Hee University, Dongdaemun-gu, Seoul, Korea.

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 (FH) prevents cataract formation in Sprague-Dawley (SD) rat pups. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379086PMC
February 2019
1 Read

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Mol Vis 2019 8;25:106-117. Epub 2019 Feb 8.

Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375PMC
February 2019
3 Reads

Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.

Mol Vis 2019 8;25:93-105. Epub 2019 Feb 8.

Canine Genetics Research Group, Kennel Club Genetics Centre, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk, United Kingdom.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377385PMC
February 2019
1 Read

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.

Mol Vis 2019 8;25:79-92. Epub 2019 Feb 8.

Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC.

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: : 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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377374PMC
February 2019
1 Read

Comparison of histologic findings in age-related macular degeneration with RPE flatmount images.

Mol Vis 2019 7;25:70-78. Epub 2019 Feb 7.

Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377373PMC
February 2019
3 Reads

Variable reduction in Norrin signaling activity caused by novel mutations in identified in patients with familial exudative vitreoretinopathy.

Mol Vis 2019 7;25:60-69. Epub 2019 Feb 7.

Department of Ophthalmology, Xinhua Hospital, Affiliated to Medicine School of Shanghai Jiaotong University, Kongjiang Road, Shanghai, China.

Purpose: To identify novel mutations in 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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377376PMC
February 2019
1 Read
1.986 Impact Factor

Protective effect of myricetin derivatives from against hydrogen peroxide-induced stress in ARPE-19 cells.

Mol Vis 2019 7;25:47-59. Epub 2019 Feb 7.

Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

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 have the potential to serve as functional food as reported previously. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379087PMC
February 2019
3 Reads

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family.

Mol Vis 2019 20;25:1-11. Epub 2019 Jan 20.

Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

Purpose: To identify the mutation for Volkmann cataract () at 1p36.33.

Methods: The genes in the candidate region 1p36. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377PMC
January 2019
10 Reads

Human lens weights with increasing age.

Mol Vis 2018 31;24:867-xxx. Epub 2018 Dec 31.

Brien Holden Vision Institute, Sydney, Australia.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382474PMC
March 2019
19 Reads
1.986 Impact Factor

Automatic analysis of the retinal avascular area in the rat oxygen-induced retinopathy model.

Mol Vis 2018 1;24:767-777. Epub 2018 Dec 1.

John A Moran Eye Center, University of Utah, Salt Lake City, UT.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382473PMC
March 2019
13 Reads

Whole exome sequencing reveals novel mutations in Chinese patients with autosomal recessive retinitis pigmentosa.

Mol Vis 2019 20;25:35-46. Epub 2019 Jan 20.

Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Shantou, Guangdong, China.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363637PMC
January 2019
1 Read

Injury induces endothelial to mesenchymal transition in the mouse corneal endothelium in vivo via FGF2.

Mol Vis 2019 20;25:22-34. Epub 2019 Jan 20.

USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363638PMC
January 2019
1 Read

Changes in tear biomarker levels in keratoconus after corneal collagen crosslinking.

Mol Vis 2019 20;25:12-21. Epub 2019 Jan 20.

Bioftalmik Applied Research, Bizkaia Science and Technology Park, Derio, Bizkaia, Spain.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363636PMC
January 2019
5 Reads

Micromorphology analysis of the anterior human lens capsule.

Mol Vis 2018 31;24:902-912. Epub 2018 Dec 31.

Department of Biomedical Engineering, University of Miami College of Engineering, Coral Gables, FL.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334982PMC
December 2018
2 Reads

Age-related aqueous humor (AH) and lens epithelial cell/capsule protein carbonylation and AH protein concentration in cataract patients who have pseudoexfoliative diseases.

Mol Vis 2018 31;24:890-901. Epub 2018 Dec 31.

Department of Biology, University of Patras, Patras, Greece.

Purpose: The aim of this study is to investigate the age-correlation of oxidative stress (OS, assessed by the accumulative OS damage marker protein carbonyls) in aqueous humour (AH; together with protein concentration) and lens epithelial cells plus capsule (LECs/capsule) in patients with cataract (CAT), and also suffering from pseudoexfoliation syndrome (PEX), primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXG).

Methods: AH samples from 78 male/female patients (21, 20, 19 and 18 with CAT, PEX, PXG, and POAG, respectively), and LECs/capsule samples from 104 male/female patients (34, 32, 18, and 20 with CAT, PEX, PXG and POAG, respectively) were collected during phacoemulsification CAT surgery. Average protein carbonyl concentrations were measured in patients grouped in 5-year age intervals (ranging from 56-60 to 86-90). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334981PMC
December 2018
1 Read

Comprehensive characterization of the adult ND4 Swiss Webster mouse retina: Using discovery-based mass spectrometry to decipher the total proteome and phosphoproteome.

Mol Vis 2018 31;24:875-889. Epub 2018 Dec 31.

Department of Ophthalmology, Louisiana State University Health Science Center (LSUHSC), New Orleans, LA.

Purpose: Diverse groups of proteins play integral roles in both the physiology and pathophysiology of the retina. However, thorough proteomic analyses of retinas of experimental species are currently unavailable. The purpose of the present paper is providing the field with a comprehensive proteomic characterization of the retina of a commonly used laboratory mouse using a discovery-based mass spectrometry (MS) approach. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334985PMC
December 2018
2 Reads

Immunophenotypic characterization of telocyte-like cells in pterygium.

Mol Vis 2018 29;24:853-866. Epub 2018 Dec 29.

Department of Biomedical Sciences, University of Cagliari, Italy.

Purpose: Telocytes (TCs) are peculiar interstitial cells, characterized by their typical elongated and interconnected processes called telopodes. TCs are supposed to contribute to maintain tissue homeostasis but also to be involved in the pathophysiology of many disorders. The aim of the study was to identify TCs in pterygium, a chronic condition of bulbar conjunctiva, and to examine possible differences in TCs in terms of immunophenotype and/or localization between pterygium and normal conjunctiva, to evaluate the possible involvement of TCs in pathogenesis of pterygium. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334986PMC
December 2018
2 Reads

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Mol Vis 2018 31;24:847-852. Epub 2018 Dec 31.

Clinical and Experimental Sciences, University of Southampton, UK.

Purpose: To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.

Methods: Clinical examination and phenotyping, segregation, and functional analysis were performed for the two studied pedigrees.

Results: A novel gene variant (c. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334980PMC
December 2018
11 Reads
1.986 Impact Factor

Rescue of cone function in cone-only knockout mouse model with Leber congenital amaurosis phenotype.

Mol Vis 2018 30;24:834-846. Epub 2018 Dec 30.

Department of Ophthalmology, John A. Moran Eye Center, University of Utah Health Science Center, Salt Lake City, UT.

Purpose: Recessive mutations in the human gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). -knockout mice develop LCA without nephronophthisis. Mutant rods rapidly degenerate while mutant cones survive for months. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334983PMC
December 2018
1 Read

Bulk changes in posterior scleral collagen microstructure in human high myopia.

Mol Vis 2018 30;24:818-833. Epub 2018 Dec 30.

Structural Biophysics Research Group, School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK.

Purpose: We aimed to characterize any bulk changes in posterior scleral collagen fibril bundle architecture in human eyes with high myopia.

Methods: Wide-angle X-ray scattering (WAXS) was employed to map collagen orientation at 0.5 mm × 0. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334987PMC
December 2018
1 Read

Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry.

Mol Vis 2018 28;24:801-817. Epub 2018 Dec 28.

Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia.

Purpose: Pseudoexfoliation (PEX) syndrome is an age-related progressive disease of the extracellular matrix with ocular manifestations. PEX is clinically diagnosed by the presence of extracellular exfoliative deposits on the anterior surface of the ocular lens. PEX syndrome is a major risk factor for developing glaucoma, the leading cause of irreversible blindness in the world, and is often associated with the development of cataract. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334984PMC
December 2018
2 Reads
1.986 Impact Factor

Nintedanib inhibits TGF-β-induced myofibroblast transdifferentiation in human Tenon's fibroblasts.

Mol Vis 2018 9;24:789-800. Epub 2018 Dec 9.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Purpose: This study aimed to investigate the effect of nintedanib on the conversion of human Tenon's fibroblasts (HTFs) into myofibroblasts and reveal the molecular mechanisms involved.

Methods: Primary cultured HTFs were incubated with transforming growth factor β1 (TGF-β1) alone or combined with nintedanib, and cell proliferation and migration were measured by cell counting kit-8 (CCK8) and the scratch wound assay, respectively. HTF contractility was evaluated with a 3D collagen contraction assay. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300612PMC
December 2018
3 Reads

Spectrum of germline mutations and clinical manifestations in retinoblastoma patients from Thailand.

Mol Vis 2018 9;24:778-788. Epub 2018 Dec 9.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Purpose: Retinoblastoma (RB) is a retinal tumor that most commonly occurs in children. Approximately 40% of RB patients carry germline mutations in the gene. RB survivors with germline mutations are at increased risk of passing on the disease to future offspring and of secondary cancer in adulthood. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300611PMC
December 2018
3 Reads

Intravitreal bevacizumab upregulates transthyretin in experimental branch retinal vein occlusion.

Mol Vis 2018 26;24:759-766. Epub 2018 Nov 26.

Department of Ophthalmology, Aalborg University Hospital, Aalborg, Denmark.

Purpose: To identify retinal protein changes that mediate beneficial effects of intravitreal bevacizumab in experimental branch retinal vein occlusion (BRVO).

Methods: In six Danish Landrace pigs, BRVO was induced with argon laser in both eyes. After BRVO was induced, the right eye of each animal was given an intravitreal injection of bevacizumab while the left eye was treated with saline water. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279196PMC
November 2018
10 Reads

Echinacoside protects retinal ganglion cells from ischemia/reperfusion-induced injury in the rat retina.

Mol Vis 2018 25;24:746-758. Epub 2018 Nov 25.

Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Objective: To investigate whether echinacoside (ECH) protects the retina against ischemia/reperfusion (I/R) injury and the underlying mechanisms.

Methods: Adult male Wistar rats were randomly divided into four groups: sham, sham plus ECH, I/R plus vehicle, and I/R plus ECH. Before the retinal I/R injury produced by high intraocular pressure (HOP), ECH was administered (20 mg/kg daily) for 7 days. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279312PMC
November 2018
12 Reads

Photoreceptor preservation induced by intravitreal controlled delivery of GDNF and GDNF/melatonin in rhodopsin knockout mice.

Mol Vis 2018 16;24:733-745. Epub 2018 Nov 16.

Pharmaceutical Innovation in Ophthalmology Research Group, UCM 920415, Department of Pharmaceutics and Food Technology, Faculty of Pharmacy, Complutense University, Madrid, Spain.

Purpose: To evaluate the potential of a poly(lactic-co-glycolic acid) (PLGA)-based slow release formulation of glial cell line-derived neurotrophic factor (GDNF) alone or in combination with melatonin to rescue photoreceptors in a mouse model of retinal degeneration.

Methods: GDNF and GDNF/melatonin-loaded PLGA microspheres (MSs) were prepared using a solid-in-oil-in-water emulsion solvent extraction-evaporation technique. A combination of PLGA and vitamin E (VitE) was used to create the microcarriers. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279195PMC
November 2018
17 Reads

Epac1 deacetylates HMGB1 through increased IGFBP-3 and SIRT1 levels in the retinal vasculature.

Mol Vis 2018 16;24:727-732. Epub 2018 Nov 16.

Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit MI.

Purpose: Inflammation is a key component of retinal disease. We previously reported that exchange protein for cAMP 1 (Epac1) reduced inflammatory mediators, including total levels of high mobility group box 1 (HMGB1) in retinal endothelial cells (RECs) and the mouse retina. The goal of this study was to determine intermediate pathways that allow Epac1 to reduce HMGB1, which could lead to novel targets for therapeutics. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279194PMC
November 2018
20 Reads

TGF-β-induced IOP elevations are mediated by RhoA in the early but not the late fibrotic phase of open angle glaucoma.

Mol Vis 2018 29;24:712-726. Epub 2018 Oct 29.

Neuroscience and Ophthalmology Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, United Kingdom.

Purpose: Elevations in intraocular pressure (IOP) are associated with the development of glaucoma and loss of sight. High transforming growth factor-β (TGF-β) 1 levels in the eye's anterior chamber can lead to dysfunctional contractions through RhoA signaling in trabecular meshwork (TM) cells and IOP spikes. Sustained high TGF-β levels leads to TM fibrosis and sustained increases in IOP. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205807PMC
January 2019
9 Reads

Comprehensive screening of in a cohort of Chinese patients with Bietti crystalline dystrophy.

Mol Vis 2018 26;24:700-711. Epub 2018 Oct 26.

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China.

Purpose: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in . The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD.

Methods: Ophthalmological evaluations were performed in all patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257PMC
January 2019
15 Reads
1.990 Impact Factor

Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.

Mol Vis 2018 19;24:679-689. Epub 2018 Oct 19.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Purpose: The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.

Methods: Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197863PMC
January 2019
3 Reads
1.986 Impact Factor

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa.

Mol Vis 2018 18;24:667-678. Epub 2018 Oct 18.

Medical Biosciences/Medical and Clinical Genetics, University of Umeå, Umeå, Sweden.

Purpose: Retinitis pigmentosa (RP) represents a large group of inherited retinal diseases characterized by clinical and genetic heterogeneity. Among patients with RP in northern Sweden, we identified two severely affected siblings and aimed to reveal a genetic cause underlying their disease.

Methods: Whole exome sequencing (WES) was performed on both affected individuals. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197864PMC
January 2019
3 Reads

Set screw homogenization of murine ocular tissue, including the whole eye.

Mol Vis 2018 26;24:690-699. Epub 2018 Oct 26.

Department of Ophthalmology, Emory University, Atlanta, GA.

Purpose: To compare methods for homogenizing the mouse whole eye or retina for RNA extraction.

Methods: We tested five homogenization techniques for the whole eye and the retina. Two established shearing techniques were a version of the Potter-Elvehjem homogenizer, which uses a plastic pellet pestle in a microfuge tube, and a Dounce homogenizer. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202007PMC
January 2019
17 Reads

Activator protein-1 contributes to the NaCl-induced expression of VEGF and PlGF in RPE cells.

Mol Vis 2018 9;24:647-666. Epub 2018 Oct 9.

Department of Ophthalmology and Eye Hospital, University of Leipzig, Leipzig, Germany.

Purpose: Systemic hypertension is a risk factor of neovascular age-related macular degeneration; consumption of dietary salt resulting in extracellular hyperosmolarity is a main cause of hypertension. Extracellular hyperosmolarity was shown to induce expression of angiogenic growth factors, such as vascular endothelial growth factor (VEGF) and placental growth factor (PlGF), in RPE cells. The aim of the present study was to determine whether the hyperosmotic expression of growth factor genes in RPE cells is mediated by activator protein-1 (AP-1), and whether c-Fos and c-Jun genes are regulated by extracellular osmolarity. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178337PMC
November 2018
11 Reads

Effects of aging and environmental tobacco smoke exposure on ocular and plasma circulatory microRNAs in the Rhesus macaque.

Mol Vis 2018 24;24:633-646. Epub 2018 Sep 24.

Department of Ophthalmology & Vision Science, School of Medicine, University of California, Davis, Davis, CA.

Purpose: To identify changes induced by environmental tobacco smoke (ETS) in circulatory microRNA (miRNA) in plasma and ocular fluids of the Rhesus macaque and compare these changes to normal age-related changes. Tobacco smoke has been identified as the leading environmental risk factor for age-related macular degeneration (AMD).

Methods: All Rhesus macaques were housed at the California National Primate Research Center (CNPRC), University of California, Davis. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161805PMC
November 2018
3 Reads

Bilberry extract and anthocyanins suppress unfolded protein response induced by exposure to blue LED light of cells in photoreceptor cell line.

Mol Vis 2018 24;24:621-632. Epub 2018 Sep 24.

Molecular Pharmacology, Department of Biofunctional Evaluation, Gifu Pharmaceutical University, Gifu, Japan.

Purpose: The purpose of this study was to investigate the effects of bilberry extract with its anthocyanins on retinal photoreceptor cell damage and on the endoplasmic reticulum (ER) stress induced by exposure to blue light-emitting diode (LED) light.

Methods: Cultured murine photoreceptor cells (661W) were exposed to blue LED light with or without bilberry extract or its anthocyanins in the culture media. Aggregated short-wavelength opsin (S-opsin) in murine photoreceptor cells was observed with immunostaining. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161804PMC
November 2018
16 Reads

Elevation of preoperative recipient aqueous cytokine levels in eyes with primary graft failure after corneal transplantation.

Mol Vis 2018 13;24:613-620. Epub 2018 Sep 13.

Department of Ophthalmology, Tokyo Dental College, Ichikawa General Hospital, Chiba, Japan.

Purpose: Primary graft failure after corneal transplantation is caused by dysfunction of corneal endothelial cells. Recently, we demonstrated that preoperative recipients' aqueous cytokine levels are associated with rapid corneal endothelial cell loss after corneal transplantation. In the present study, we evaluated the preoperative inflammatory cytokine levels in the aqueous humor (AqH) of eyes with primary graft failure following corneal transplantation. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139874PMC
November 2018
6 Reads

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa.

Mol Vis 2018 31;24:603-612. Epub 2018 Aug 31.

UCL Institute of Ophthalmology, London, UK.

Purpose: Mutations in encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we performed next-generation sequencing to reveal additional arRP cases associated with variants.

Methods: Whole-genome sequencing (WGS) or whole-exome sequencing (WES) was performed in 1,051 unrelated individuals recruited for the UK Inherited Retinal Disease Consortium and NIHR-BioResource Rare Diseases research studies. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128700PMC
November 2018
14 Reads
1.990 Impact Factor

Targeted disruption of the endogenous zebrafish locus as models of rapid rod photoreceptor degeneration.

Mol Vis 2018 27;24:587-602. Epub 2018 Aug 27.

Department of Biological Science, Florida State University, Tallahassee, FL.

Purpose: Retinitis pigmentosa (RP) is a collection of genetic disorders that results in the degeneration of light-sensitive photoreceptor cells, leading to blindness. RP is associated with more than 70 loci that may display dominant or recessive modes of inheritance, but mutations in the gene encoding the visual pigment rhodopsin (RHO) are the most frequent cause. In an effort to develop precise mutations in zebrafish as novel models of photoreceptor degeneration, we describe the generation and germline transmission of a series of novel clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-induced insertion and deletion (indel) mutations in the major zebrafish locus, . Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128699PMC
November 2018
6 Reads

Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?

Mol Vis 2018 10;24:560-573. Epub 2018 Aug 10.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.

Purpose: Our previous study reported that 5.5% of probands with early-onset high myopia (eoHM) had mutations in or . Why were the probands initially considered to have eoHM but not Stickler syndrome (STL)?

Methods: Probands and family members with eoHM and mutations in or were followed up and reexamined based on the criteria for STL. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089037PMC
November 2018
3 Reads
1.990 Impact Factor