Abstract：
AIMS:Mutations in the PAX6 are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in PAX6 in Chinese patients with congenital aniridia. METHODS:Total genomic DNA was isolated from the peripheral blood of the aniridia patients, all healthy family members and 100 healthy volunteers. The 14 exons (including alternatively spliced exon 5a) of the PAX6 gene were amplified by polymerase chain reaction, and the products were sequenced to identify the mutation. RESULTS:Two mutations of PAX6 were detected in exon 11 in the congenital aniridia patients. One mutation was caused by the duplication of the 4 nucleic acids CTCC (c.1286insCTCC), which would lead to a frameshift. The other mutation was caused by a transition from C to T (c.1311C → T), which would generate a stop codon. Neither mutation was present in the healthy family members or 100 healthy volunteers. CONCLUSION:We examined the exon sequence of the PAX6 gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination. The mutation found in the unrelated individual has not previously been reported and represents a new addition to the spectrum of mutations in PAX6.
journal_name
Ophthalmic Resjournal_title
Ophthalmic researchauthors
Luo F,Zhou L,Ma X,He Y,Zou L,Jie Y,Liu J,Pan Zdoi
10.1159/000327593subject
Has Abstractpub_date
2012-01-01 00:00:00pages
27-31issue
1eissn
0030-3747issn
1423-0259pii
000327593journal_volume
47pub_type
杂志文章abstract：:The tear levels of cholesterol of 17 patients with chronic blepharitis and 17 healthy subjects were determined by the photometric method. The mean cholesterol level of the patients was determined to be 56.1 +/- 8.9 (SEM) mg/dl. No statistically significant difference between the tear cholesterol levels of the two grou...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267034
更新日期：1990-01-01 00:00:00
abstract：OBJECTIVES:To evaluate the efficacy of postenucleation saline wash and the effect of different antimicrobial agents on the microbial contamination of donor eyes. METHODS:Two hundred donor eyes were given saline wash and treated with any one of the following 5 randomly selected antimicrobial solutions: 1% povidone-iodi...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000095772
更新日期：2006-01-01 00:00:00
abstract：:The crystalline lens capsules of eye bank eyes, intraocular lens (IOL)-inserted eyes and those of monkey and rabbit eyes were observed in vivo and/or in vitro through a specular microscope or Scheimpflug slit images in combination with new image-processing techniques and scanning electron microscopy. Shagreen patterns...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000266575
更新日期：1988-01-01 00:00:00
abstract：:VEGF is considered as an important factor in the pathogenesis of macular edema. VEGF induces the rupture of the blood retinal barrier and may also influence the retinal pigment epithelial (RPE) outer retinal barrier. The aim of this work was to analyze the influence of the VEGF receptor pathways in the modulation of t...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000119877
更新日期：2008-01-01 00:00:00
abstract：INTRODUCTION:Diabetic Retinopathy (DR) is one of the major vision-threatening causes worldwide. Searching for an individualized therapeutic strategy to prevent its progress is challenging. OBJECTIVE:This work aimed to investigate the association of angiogenesis-inducer vascular endothelial growth factor (VEGF) gene fa...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000511087
更新日期：2020-08-24 00:00:00
abstract：PURPOSE:The purpose of this study was to evaluate the anatomical and functional findings in patients with vitreomacular traction (VMT) combined with epiretinal membrane (ERM) in the same eye. METHODS:In this retrospective, cross-sectional study, we studied 65 patients with VMT and ERM. In 36 of them, ERM/VMT had a 'un...
journal_title：Ophthalmic research
pub_type： 杂志文章,多中心研究
doi：10.1159/000446658
更新日期：2017-01-01 00:00:00
abstract：:To evaluate the possible role of nitric oxide in the pathogenesis of exogenous prostaglandin (PG) induced aqueous flare elevation, we examined the effect of NG-nitro-L-arginine methyl ester (L-NAME), an L-arginine analogue acting as a specific inhibitor of nitric oxide synthase, on the elevation of aqueous flare in pi...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267912
更新日期：1996-01-01 00:00:00
abstract：BACKGROUND:The aim of this work was to compare the efficacy of intravitreal dexamethasone implant (Ozurdex) and intravitreal ranibizumab (Lucentis) in the treatment of macular edema (ME) caused by retinal vein occlusion (RVO). METHODS:Thirty-two ME cases treated with Ozurdex and 32 ME cases treated with ranibizumab we...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000458534
更新日期：2017-01-01 00:00:00
abstract：:To evaluate the effect of single or repeated topical applications of prostaglandin E2 (PGE2) to the cornea on the blood-aqueous barrier, we have measured the extent of flare in the anterior chamber of rabbit eyes at various time intervals. PGE2 was applied to the cornea for 4 min with the use of a glass cylinder in pi...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267895
更新日期：1996-01-01 00:00:00
abstract：:The topographic distribution of enzyme activities in normal rat lenses and their changes occurring during naphthalene cataract development were investigated. Cataract formation was documented by slit images according to the Scheimpflug principle. Before the onset of visible changes and after the development of early v...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267150
更新日期：1992-01-01 00:00:00
abstract：:Extracellular recordings were performed on electrophysiologically identified achromatic neurons of the photosensitive pineal organ of the frog. The effects of iontophoretically applied aspartate and glutamate as well as one aspartate antagonist (D-alpha-aminoadipate) were observed on spontaneous activity and light-evo...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000265304
更新日期：1984-01-01 00:00:00
abstract：:Epinephrine (1, 3 and 10 micrograms/kg) was found to increase retinal and choroidal blood flow (22, 49 and 67%) when it was administered intravenously. The increase in retinal and choroidal blood flow coincided well with the increase in systemic blood pressure (44, 65 and 96%, respectively). When epinephrine (2%) was ...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000266728
更新日期：1988-01-01 00:00:00
abstract：PURPOSE:To investigate the role of integrin-linked kinase (ILK) in endothelial cell migration, proliferation and tube formation in vitro. MATERIALS AND METHODS:Cultured RF/6A cells were knocked down for ILK using small interfering RNA (siRNA). Cellular ILK expression was quantified by real-time quantitative PCR and We...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000232971
更新日期：2009-01-01 00:00:00
abstract：:Substance P (SP) immunoreactivity was demonstrated using the indirect immunofluorescence technique in one normal and one retinoblastomatous human retina. In the normal retina SP immunoreaction was located in nerve fibres but not in the neurons in the inner plexiform layer. A similar location was observed in the histol...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000265276
更新日期：1983-01-01 00:00:00
abstract：:The specific activities of the four investigated enzymes of the carbohydrate metabolism decrease with ageing. In the old tissue, phosphoglyceratemutase and enolase sustain changes in their molecular weight, and their substrate affinity is modified. ...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000265275
更新日期：1983-01-01 00:00:00
abstract：PURPOSE:To assess the natural variability in the diameter of small collagen fibrils in the lamellae of corneal stroma of healthy young rabbits. MATERIALS AND METHODS:The corneas of 6 young adult female New Zealand White rabbits (2.1 kg) were prepared for transmission electron microscopy (TEM) by fixation with a cacody...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000096228
更新日期：2006-01-01 00:00:00
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journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000265306
更新日期：1984-01-01 00:00:00
abstract：AIMS:To evaluate the biologic effects of fluoroquinolone eye solutions without preservatives on cultured human corneal epithelial cells in vitro. METHODS:We studied the effect of diverse generations of topical fluoroquinolones such as ofloxacin 0.3%, levofloxacin 0.5%, tosufloxacin 0.3%, moxifloxacin 0.5% and gatiflox...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000357976
更新日期：2014-01-01 00:00:00
abstract：PURPOSE:To investigate whether different crush durations or a different fluorogold (FG) injection timing can affect the efficiency of FG retrograde labeling of retinal ganglion cells (RGCs) in the optic nerve (ON) crush model. METHODS:We performed the ON crush in rats with a clip at different durations or a jewel forc...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000357736
更新日期：2014-01-01 00:00:00
abstract：:We hypothesize that the differential susceptibility to photic injury among different strains of rat retinas may depend on the levels of phospholipid hydroperoxide glutathione peroxidase (PHGPX) activity, one of the endogenous antioxidant enzymes in the retina. The retinas of four inbred strains of albino rat (Fischer,...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267376
更新日期：1994-01-01 00:00:00
abstract：:Lipid peroxidation was induced with porcine retinal homogenates using ferric iron or UV light. A number of lipid and aqueous-soluble antioxidants were tested and their protective effects measured after 60 min of exposure. The iron system produced up to 5 times more lipid hydroperoxides as quantified by the fluorescenc...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267103
更新日期：1991-01-01 00:00:00
abstract：:A system for isolation of capillaries from the retina has been adapted to biochemical studies in vitro. Insulin receptors were identified in human and calf retinal blood vessels. Binding of 125I insulin by calf retinal blood vessels takes place through high affinity (low capacity) and low affinity (high capacity) rece...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000265234
更新日期：1983-01-01 00:00:00
abstract：:Oxidative stress plays a role in the pathogenesis of neurodegeneration in diabetic retinopathy (DR). However, whether an excellent reactive oxygen species scavenger, U83836E, inhibits the neurodegeneration in DR remains uncertain. This study is aimed at clarifying the effects of U83836E on DR. Two weeks after streptoz...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000321952
更新日期：2011-01-01 00:00:00
abstract：:Autofluorescence and transmission values of the lens for blue-green light were determined at two locations with the use of identical fluorophotometers: in Coimbra, Portugal, in 44 healthy controls, 15 haemodialysis and 11 renal failure patients, and in Leiden, The Netherlands, in 57 healthy controls, 23 haemodialysis ...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000266736
更新日期：1988-01-01 00:00:00
abstract：:We measured prostaglandin E2 (PGE2) and prostacyclin levels in the vitreous bodies of 5 eyes of patients with diabetic retinopathy complicated by rhegmatogenous retinal detachment (RRD) and compared them with the corresponding levels in 9 nondiabetic eyes with the same condition as well as with 10 control eyes of dece...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000266995
更新日期：1990-01-01 00:00:00
abstract：:The effects of inhibition of both glutathione synthesis and of glutathione reductase and catalase activities have been determined in the regulation of hydrogen peroxide (H2O2) in the anterior chamber of pigmented rabbits. Glutathione reductase inhibition using intravitreal 1,3-bis-(2-chloroethyl)-1-nitrosourea (BCNU) ...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267124
更新日期：1991-01-01 00:00:00
abstract：PURPOSE:To examine melanocortin receptor (from MC-1 to MC-5) mRNA and the effect of alpha-melanocyte-stimulating hormone (alpha-MSH) on interleukin 8 (IL-8) and monocyte chemotactic protein 1 (MCP-1) expression in a human retinal pigment epithelial cell line (ARPE-19) stimulated with IL-1beta or tumor necrosis factor a...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000087699
更新日期：2005-09-01 00:00:00
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journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000267881
更新日期：1996-01-01 00:00:00
abstract：PURPOSE:Osthole is an agent isolated from Cnidium monnieri (L.) Cusson and has been used to treat several disorders. Corneal neovascularization is a sight-threatening condition associated with several inflammatory or infectious ocular disorders. In this study, we investigated the anti-angiogenic effects of osthole on c...
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000505976
更新日期：2020-01-01 00:00:00
abstract：AIM:The aim of the current study is to evaluate the role of povidone iodine (PVI) in the management of experimental bacterial endophthalmitis in young rabbits. METHOD:Twenty white rabbits were used. Colony-forming units (CFU) of Staphylococcus epidermidis were injected intravitreally into the right eye of each animal....
journal_title：Ophthalmic research
pub_type： 杂志文章
doi：10.1159/000217721
更新日期：2009-01-01 00:00:00
