DNA methyltransferase inhibitor suppresses fibrogenetic changes in human conjunctival fibroblasts.
Conclusions: In HConF, fibrogenetic changes were partly suppressed with a DNA methyltransferase inhibitor, suggesting an indirect inhibitory effect of the inhibitor on the COL1A2 promoter in HConF. PMID: 31523116 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

TonoVet versus Tonopen in a high intraocular pressure monkey model.
Conclusions: In animals with normal IOP, the TonoVet and Tonopen tonometers produced consistent measurements. However, in a monkey model of chronic high IOP, the measurements obtained by these tonometers were inconsistent, with higher IOPs associated with larger measurement errors. Therefore, it is necessary to be aware that among different tonometers, there may be systemic errors and deviations in IOP measurements. These findings should facilitate efforts to obtain more accurate individualized diagnoses and prevent the utilization of misleading IOP values. PMID: 31523117 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

The effects of dopamine and dopamine receptor agonists on the phototransduction cascade of frog rods.
Conclusions: Dopamine induces a decrease in rod sensitivity, mostly by reducing the activation rate of the cascade, and to a much lesser extent, speeding up the turning off of the cascade. The sign of the reaction to all tested drugs, lack of selectivity of dopamine and dopamine receptor agonist action, and analysis of factors that determine sensitivity of photoreceptors suggest that, in rod outer segments (ROSs), dopamine action is mediated by D1-D2 receptor heterodimers but not D1R or D2R alone. This work supports the assumption made earlier by other authors that dopamine exercises its regulatory effect via at least two ...
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Therapeutic efficacy of mesenchymal stem cells for the treatment of congenital and acquired corneal opacity.
Conclusions: UMSC transplantation was successful in recovering some corneal transparency in injured corneas of wild-type, Col5a1f/f and Col5a1∆st/∆st mice. The production of collagen V by transplanted UMSCs may account for the regeneration of corneal transparency, as exemplified by better collagen fiber organization, as revealed with SHG signals. PMID: 31523119 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Conclusions: In this study, we identified four novel mutations in crystallin genes in Chinese families with congenital cataracts. The results expand the mutational spectrum of crystallin genes, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine. PMID: 31523120 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Association of severity of primary open-angle glaucoma with serum vitamin D levels in patients of African descent.
Conclusions: In this AD cohort, patients with advanced glaucoma had lower serum levels of vitamin D compared with early glaucoma and normal subjects. PMID: 31523121 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Dimethyl fumarate mitigates optic neuritis.
Conclusions: This work underscores the potential of DMF to mitigate the severity and recurrence of optic neuritis episodes in patients with RRMS. PMID: 31523122 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Wheel running exercise protects against retinal degeneration in the I307N rhodopsin mouse model of inducible autosomal dominant retinitis pigmentosa.
Conclusions: Voluntary wheel running partially protected against retinal degeneration and inflammation, and RPE disruption in a model of inducible adRP. This is the first report of exercise protection in an adult adRP animal model. It is also the first report of an RPE phenotype in the I307N Rho mouse. These findings add to a growing literature reporting that modest whole-body exercise is protective across a wide range of models of retinal damage and disease, and further highlights the potential for this accessible and inexpensive therapeutic intervention in the ophthalmic clinic. PMID: 31523123 [PubMed - in process] (...
Source: Molecular Vision - September 17, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Genomic/proteomic analyses of dexamethasone-treated human trabecular meshwork cells reveal a role for GULP1 and ABR in phagocytosis.
Conclusion: The DEX-induced inhibition of phagocytosis may be caused by the downregulation of ABR and GULP1 disrupting the αvβ5 integrin/RAC1-mediated engulfment pathway. The downregulation of GULP1 by αvβ3 integrin further suggests that this integrin may be a negative regulator of phagocytosis by transcriptionally downregulating proteins needed for phagocytosis. In summary, these results represent new insights into the effects of glucocorticoids and integrin signaling on the phagocytic process in the TM. PMID: 31516309 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 14, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Conclusions: Genetic variation associated with PCG in this study reflects the ethnic heterogeneity of the Mauritanian population. However, a larger cohort is needed to identify additional families carrying these mutations and confirm their biologic role. PMID: 31367175 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - August 3, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

RNA sequencing profiling of the retina in C57BL/6J and DBA/2J mice: Enhancing the retinal microarray data sets from GeneNetwork.
Conclusions: Retinal transcriptome features of B6 and D2 mouse strains provide a useful reference for a better understanding of the mouse retina. Generally, the microarray database presented on GeneNetwork shows good agreement with the RNA-seq data, but we note that any allelic difference between B6 and D2 mice should be verified with the latter. PMID: 31354228 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 31, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

The anti-inflammatory effect of minocycline on endotoxin-induced uveitis and retinal inflammation in rats.
Conclusions: This study indicates minocycline is far beyond an antibiotic. It not only attenuates rat EIU but also inhibits retinal inflammation through inactivating microglia, inhibiting inflammatory cell recruitment and inflammatory cytokine production. PMID: 31354229 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 31, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Gene expression signatures in tree shrew sclera during recovery from minus-lens wear and during plus-lens wear.
Conclusions: One day of recovery is not long enough for the emmetropization mechanism to produce significant gene expression changes in the sclera or refractive recovery. After 4 days, recovery and plus-lens wear produced altered scleral gene expression, but the patterns ("signatures") differed as to which genes showed altered expression, and whether the gene expression was up- or downregulated. Thus, myopia produced altered scleral mRNA expression in recovery and plus-lens wear, confirming that signals initiated by the retina reached the sclera, but the sclera in the elongated recovering eye responded differentl...
Source: Molecular Vision - July 26, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Osmotic induction of cyclooxygenase-2 in RPE cells: Stimulation of inflammasome activation.
Conclusions: The expression of COX2 in RPE cells is osmoresponsive, and depends on NFAT5. COX2 activity stimulates hyperosmotic expression of angiogenic (VEGFA) and inflammatory factor (IL1B and NLRP3) genes, and activation of the NLRP3 inflammasome in RPE cells. PMID: 31341381 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 26, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Altered expression of aquaporin 1 and aquaporin 5 in the cornea after primary blast exposure.
Conclusions: Primary blast exposure resulted in edema-related changes in the cornea manifested by the altered expression of the edema-regulating proteins AQP1 and AQP5 with blast overpressure-specific impulses. These findings support potential acute corneal injury mechanisms in which the altered regulation of water permeability is caused by primary blast exposure. PMID: 31263351 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.
Authors: Nanda GG, Alone DP Abstract Fuchs' endothelial corneal dystrophy (FECD) is the most prominent reason for corneal-endothelial transplantations across the globe. The disease pathophysiology manifests through a combination of various genetic and non-heritable factors. This review provides a comprehensive list of known genetic players that cause FECD, and discusses the prominent pathological features that participate in disease progression, such as channel dysfunction, abnormal extracellular matrix deposition, RNA toxicity, oxidative stress, and apoptosis. Although current practices to correct visual acuity in...
Source: Molecular Vision - July 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Expressional and functional involvement of gap junctions in aqueous humor outflow into the ocular trabecular meshwork of the anterior chamber.
Conclusions: The GJA1 and GJA8 gap junction proteins, in particular, are robustly expressed in human TM cells and tissues. Pharmacological inhibition of gap junction channels causes an increased resistance of AH outflow and an elevation of IOP in mice. The present findings suggest the functional role of gap junction channels for regulation of AH outflow in the TM, and activation of gap junctions might represent a therapeutic strategy for treatment of glaucoma. PMID: 31205407 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Analysis of interleukin-20 receptor complexes in trabecular meshwork cells and effects of cytokine signaling in anterior segment perfusion culture.
Conclusions: Type I and type II IL-20 receptor complexes are expressed in human TM cells with predominant expression of the type I receptor (IL-20RA and IL-20RB), which propagates signals from all three IL-20 family cytokines. However, there was a variable response in the outflow rates following perfusion of cytokines in two different species. This may explain why some people are more susceptible to developing elevated IOP in response to inflammation. PMID: 31205408 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Investigating a downstream gene of Gpnmb using the systems genetics method.
Conclusions: These results suggest that Stc1 may be a downstream candidate of Gpnmb, and that both genes interact with other genes in a network to develop glaucoma pathogenesis through mechanisms such as apoptosis and oxidative stress. PMID: 31057322 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - May 8, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.
Conclusions: CRISPR-mediated base editing can be used to facilitate a permanent and stably inherited cytosine-to-thymine nucleotide correction of the rs1061170 SNP in the CFH gene with minimal off-target effects. PMID: 30996586 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Differential stability of variant OPN1LW gene transcripts in myopic patients.
Conclusions: None of the variants identified in myopic individuals appeared to alter the efficiency of transcript splicing. However, two resulted in a significant reduction in the number of spliced and unspliced transcripts, indicating an overall reduction in steady-state transcript stability. Such a change would be expected to result in a reduced amount of photopigment, and this may be a contributing factor in the development of myopia. PMID: 30996587 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Reliability and reproducibility of a rodent model of choroidal neovascularization based on the subretinal injection of polyethylene glycol.
Conclusions: Subretinal injection of PEG induced retina/choroid degenerative modifications that mimic the initial steps of human CNV. However, ocular changes were heterogeneous among animals from PBS and PEG groups and did not follow a consistent pattern while most PBS-injected animals showed similar degenerative changes. Abnormal growth of new vessels originating from the choroidal vasculature was not observed. Therefore, we consider that this model does not consistently reproduce CNV and that researchers should choose other rodent models of CNV to avoid misinterpreting their results. PMID: 30996588 [PubMed - in proce...
Source: Molecular Vision - April 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Conclusions: Mutations in RPE65 were responsible for 11 of the cohort of 187 Chinese families with LCA, which expands the spectrum of RPE65-related LCA in the Chinese population and potentially facilitates its clinical implementation. PMID: 30996589 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.
Conclusions: Mutations in the RB1 gene in Vietnamese patients were heterogeneous and highly prevalent with pathogenic truncated mutations. With advancement in therapeutics, early detection of RB is important for eye salvation. PMID: 30996590 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 19, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

MiR-21 promotes pterygium cell proliferation through the PTEN/AKT pathway.
Authors: Li X, Dai Y, Xu J Abstract 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. The HPF cell lines were divided i...
Source: Molecular Vision - April 12, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Automatic analysis of the retinal avascular area in the rat oxygen-induced retinopathy model.
Authors: Simmons MA, Cheng AV, Becker S, Gerkin RD, Hartnett ME Abstract 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. T...
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Human lens weights with increasing age.
Conclusions: The data support the biphasic growth model for human lenses. Male lenses are significantly larger than female lenses at the conclusion of the prenatal growth mode, but the rate of weight accrual is constant thereafter. Lens weights increase continuously throughout life and can be described with equations that incorporate terms for prenatal and postnatal growth. PMID: 30820139 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Conclusions: The mutation in RP1-140A9.1 suggests the long non-coding RNA as the candidate cataract gene associated with the autosomal dominant inherited congenital cataract from CCV. The mutation has the potential to destroy exon/intron splicing of both transcripts of RP1-140A9.1. Sanger and massive deep resequencing of the linkage region failed to identify alternative candidates suggesting the mutation in RP1-140A9.1 is causative for the CCV phenotype. PMID: 30820140 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Protective effect of myricetin derivatives from Syzygium malaccense against hydrogen peroxide-induced stress in ARPE-19 cells.
Conclusions: The results showed that myricetin derivatives from S. malaccense have the capacity to exert considerable exogenous antioxidant activities and stimulate endogenous antioxidant activities. Therefore, these derivatives have excellent potential to be developed as therapeutic agents for managing DR. PMID: 30820141 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Conclusions: Four novel mutations in FZD4 were identified in Chinese patients with FEVR. No correlation in the reduced luciferase activity and the ocular phenotype was observed in this study. This study further emphasized the complexity of the FEVR-causing machinery. PMID: 30820142 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Comparison of histologic findings in age-related macular degeneration with RPE flatmount images.
Authors: Zhang Q, Chrenek MA, Bhatia S, Rashid A, Ferdous S, Donaldson KJ, Skelton H, Wu W, See TRO, Jiang Y, Dalal N, Nickerson JM, Grossniklaus HE Abstract 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 fro...
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.
Conclusions: Our results support previous studies of systemic complement components being potential biomarkers for AMD, but they suggest that smoking and disease do not synergistically affect complement levels. We also suggest a novel susceptibility and protective haplotypes in the South Carolinian AMD population. Our studies indicate that augmented complement activation associated with advanced AMD could be attributed to a decrease in CFH activity in younger patients. PMID: 30820144 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.
Conclusions: We identified two novel loci for canine PCAG. Further investigation is required to elucidate candidate variants that underlie canine PCAG. PMID: 30820145 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Conclusions: Employing a cost-effective targeted next-generation sequencing procedure, we identified the genetic causes of different retinal disorders in the majority of Iranian families in this study. PMID: 30820146 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Polyphenol-enriched fraction of Vaccinium uliginosum L. protects selenite-induced cataract formation in the lens of Sprague-Dawley rat pups.
Conclusions: FH showed a preventive effect against cataract formation by inhibiting m-calpain-mediated proteolysis and oxidative stress in the lens. These results suggest that FH could be a potential anticataract agent in age-related cataract. PMID: 30820147 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1 +/-) in mice.
Conclusions: The results show that the heterozygous deletion of the Yap1 gene in mice leads to complex ocular abnormalities, including microphthalmia, corneal fibrosis, anterior segment dysgenesis, and cataract. PMID: 30820148 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Full retraction: Rajendra S. Kadam, Jason Williams, Puneet Tyagi, Henry F. Edelhauser, Uday B. Kompella. Suprachoroidal delivery in a rabbit ex vivo eye model: influence of drug properties, regional differences in delivery, and comparison with intravitreal and intracameral routes. Mol Vis. 2013; 19:1198-1210.
Authors: Abstract [This retracts the article on p. 1198 in vol. 19, PMID: 23734089.]. PMID: 30820149 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Conclusions: In conclusion, results of the present study enhance our understanding of the genetic basis of PCG, support the notion of a genetic modifier of CYP1B1, and contribute to the development of genetic testing protocols and genetic counseling for PCG in Pakistani families. PMID: 30820150 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Conclusions: The PDE6B c.1921-9C>G intronic mutation is a founder mutation that accounts for at least 40% (6/15 families) of autosomal recessive RP among Caucasus Jews. This result is highly important for molecular diagnosis, carrier screening, and genetic counseling in this population. PMID: 30820151 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

The C-terminus of the retinal homeobox (rax) gene product modulates transcription in a context-dependent manner.
Conclusions: The present data indicate that the C-terminus of Rax can function to repress or activate transcription in a context-dependent manner. These data support our hypothesis that the highly conserved OAR domain, in combination with other regulatory elements in the Rax C-terminus, coordinates Rax activity, perhaps through functional interaction with the N-terminal OP motif. Taken together, these data provide insight into the structural features that regulate Rax activity. PMID: 30820152 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 4, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Changes in tear biomarker levels in keratoconus after corneal collagen crosslinking.
Authors: Recalde JI, Duran JA, Rodriguez-Agirretxe I, Soria J, Sanchez-Tena MA, Pereiro X, Suarez T, Acera A Abstract 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 u...
Source: Molecular Vision - February 27, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Injury induces endothelial to mesenchymal transition in the mouse corneal endothelium in vivo via FGF2.
Conclusions: These findings suggest that after surgical injury, FGF2 induces the expression of EndoMT-related genes Snai1, Zeb1, Col1a1, Col1a2, Fn1, Vim, Cdk2, and Ccne1 in the mouse corneal endothelium in vivo, similar to the human corneal endothelium ex vivo. PMID: 30804659 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 27, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
Conclusions: This study identified eight novel EYS variants and expanded the spectrum of EYS mutations in Chinese RP patients. PMID: 30804660 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 27, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry.
Conclusions: This study expands the understanding of the protein composition of pathological PEX material deposited on the ocular lens in patients with PEX syndrome and provides useful insights into the pathophysiology of this disease. This study together with the previous study by our group (Sharma et al. Experimental Eye Research 2009;89(4):479-85) demonstrate that using neat PEX material, devoid of the underlying lens capsule, for proteomics analysis is an effective approach for deciphering the protein composition of complex and highly insoluble extracellular pathological ocular deposits present in patients with PEX syn...
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Bulk changes in posterior scleral collagen microstructure in human high myopia.
Authors: Markov PP, Eliasy A, Pijanka JK, Htoon HM, Paterson NG, Sorensen T, Elsheikh A, Girard MJA, Boote C Abstract 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 × 0.5 mm spatial intervals across the posterior sclera of seven non-myopic human eyes and three eyes with high myopia (>6D of refractive error). At each sampled point, WAXS provided thickness-averaged measures of the angular distribution of preferentially ...
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.
Conclusions: Nphp5-/-; Nrl-/- cones persistently express cone pigments in the inner segments without obvious degeneration, providing an extended duration interval for viral gene expression. Viral expression of full-length NPHP5 initiates ciliogenesis between P15 and P60, and mutant cones are, in part, functional, encouraging future retina gene replacement therapy. PMID: 30713422 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Conclusions: The results highlight the importance of early genetic diagnosis in infants with congenital cataract and show that mutations in the OCRL gene can present as apparently isolated congenital cataract. PMID: 30713423 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Immunophenotypic characterization of telocyte-like cells in pterygium.
Conclusions: Because of the distribution and immunophenotype, TCs in pterygium may represent a subpopulation of relatively immature cells with regenerative potential. In addition, the expression of nestin may suggest possible involvement of TCs as active players in the regeneration of ultraviolet-damaged stroma and vascular remodeling. The fibrotic transformation in the cicatricial area may stand for a breakdown of the regenerative process. PMID: 30713424 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Comprehensive characterization of the adult ND4 Swiss Webster mouse retina: Using discovery-based mass spectrometry to decipher the total proteome and phosphoproteome.
Authors: Harman JC, Guidry JJ, Gidday JM Abstract 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. Methods: Retinas from eight male and eight female 30-week-old outbred ND4 Swiss Webster mice were harvested and immediately processed for MS ana...
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research

Age-related aqueous humor (AH) and lens epithelial cell/capsule protein carbonylation and AH protein concentration in cataract patients who have pseudoexfoliative diseases.
Authors: Papadopoulou G, Zisimopoulos D, Kalaitzopoulou E, Makri OΕ, Tsapardoni FN, Georgakopoulos CD, Georgiou CD Abstract 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 ...
Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research