Abstract:
PURPOSE:We identified a novel mutation in Paired Box gene 6 (PAX6) and characterized its associated clinical features of severe ocular malformation in a Chinese family with congenital aniridia. METHODS:We studied two patients with aniridia from a Chinese family. All patients and noncarriers in this family underwent full ophthalmologic, general and urinary examinations. Total genomic DNA was isolated from peripheral blood of two aniridia patients. PAX6 levels were determined by PCR and its mutational status was determined by sequencing. Direct sequencing detected variations in PAX6. RESULTS:Patients had bilateral congenital nystagmus, anterior polar cataract, absence of iris tissue, and foveal hypoplasia with severely reduced visual acuity. A novel heterozygous PAX6 mutation in exon 6 c.662G>A (p.W100X) was identified which created a premature termination codon. This observed sequence alteration was not found in 100 normal controls and has not been previously reported. CONCLUSIONS:We identified a novel PAX6 mutation in a family with severe ocular malformation. Our study expands the mutational spectrum of PAX6 and enriches our knowledge of the relationship between genotype and phenotype due to these mutations.
journal_name
Curr Eye Resjournal_title
Current eye researchauthors
He Y,Pan Z,Luo Fdoi
10.3109/02713683.2012.688165subject
Has Abstractpub_date
2012-10-01 00:00:00pages
879-83issue
10eissn
0271-3683issn
1460-2202journal_volume
37pub_type
杂志文章abstract:PURPOSE:Histidine is an indispensable amino acid with an imidazole ring and it is a precursor of histamine, carnosine, and anserine. Histidine has been proposed to act as a neurotransmitter or neuromodulator in mammalian central nervous system (CNS), including retina. In this study, we report histidine-like immunoreact...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1076/ceyr.16.6.600.5084
更新日期:1997-06-01 00:00:00
abstract:PURPOSE:To establish autologous iris pigment epithelial (IPE) cell transplantation in monkey eyes. METHODS:Autologous IPE cells from three monkeys were obtained by peripheral iridectomy, and cell culture was performed with autologous serum. The cultured cells were labeled with DiI, and transplantation was performed by...
journal_title:Current eye research
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:PURPOSE:To evaluate the predictive association between the horizontal anterior chamber diameter (HACD) and other measurements using Scheimpflug imaging, and to assess whether a method superior to using fixed constants can be proposed. METHODS:This hospital-based study was performed in the Cornea and Refractive Surgery...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713683.2016.1151529
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:To characterize the effect of glutamate receptor activation/inhibition on the secretion of vascular endothelial growth factor (VEGF) in retina-specific glial (Müller) cells under experimental conditions of hyperglycemia and hypoxia, two intrinsic pathologic conditions of diabetic retinopathy. METHODS:Purified ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713683.2010.483312
更新日期:2010-08-01 00:00:00
abstract::In the unsutured partial thickness penetrating wounds of the cornea, the epithelium migrates over the wounded stromal surface prior to the onset of stromal regeneration. To determine the possible affects of the epithelial ingrowth on the organization of the stromal scar tissues, the healing of unsutured and sutured wo...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713689508995803
更新日期:1995-09-01 00:00:00
abstract:PURPOSE:This study was carried out in order to determine the most potent and novel uveitopathogenic sites of recoverin using synthetic peptides. METHODS:Several synthetic peptides containing the recoverin sequence plus adjuvants were injected into Lewis rats, and the uveitopathogenic sequence was defined, clinically, ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1076/ceyr.22.4.304.5503
更新日期:2001-04-01 00:00:00
abstract:PURPOSE:To determine retinal vessel diameter variations in response to neuronal activity induced by diffuse luminance flicker. METHODS:The diameter of retinal arteries and veins was measured in 9 normal subjects by computer analysis of fundus pictures taken in monochromatic light under normal conditions of illuminatio...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1076/ceyr.16.12.1252.5021
更新日期:1997-12-01 00:00:00
abstract:PURPOSE:To evaluate 24-hr intraocular pressure (IOP) and blood pressure (BP) with timolol or latanoprost/timolol fixed combination (LTFC). METHODS:Patients with primary open-angle glaucoma or ocular hypertension with normal blood pressure were randomized to LTFC, dosed each evening, or timolol dosed twice daily in a c...
journal_title:Current eye research
pub_type: 杂志文章,随机对照试验
doi:10.1080/02713680902850075
更新日期:2009-05-01 00:00:00
abstract::Purpose/aim of the study: To observe and analyze the weekly changes in morphology and size of vacuoles, so called Wedl cells, in eyes with posterior subcapsular cataract (PSC). MATERIALS AND METHODS:Thirty-six eyes of 36 patients with pronounced PSC were included in this prospective study. High-resolution retroillumi...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713683.2017.1343852
更新日期:2017-12-01 00:00:00
abstract::Many tissues which require vitamin A store the vitamin as long-chain fatty acyl esters of retinol. As part of a study designed to characterize vitamin A metabolism in the lacrimal gland, which transports retinol from blood to lacrimal gland fluid, extracts from lacrimal glands of rabbits and rats were analyzed by non-...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688809015147
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy of intravitreal (IV) triamcinolone acetonide (IVTA) versus subtenon (ST) triamcinolone acetonide (STTA) injection for the treatment of diabetic macular edema (DME). METHODS:Searches for randomized clinical trials published between 1 January 1950 and 15 March 2011 were conducted using ...
journal_title:Current eye research
pub_type: 杂志文章,meta分析,评审
doi:10.3109/02713683.2012.705412
更新日期:2012-12-01 00:00:00
abstract:PURPOSE:Acanthamoeba keratitis is a sight-threatening corneal infection. It is known that: (i) more amoebae bind to the surface of injured corneas than to the normal corneal surface and (ii) mannose-containing glycoproteins (GPs) possess binding sites for Acanthamoeba. The present study was undertaken to determine whet...
journal_title:Current eye research
pub_type: 杂志文章
doi:
更新日期:1998-08-01 00:00:00
abstract::Utilizing a rapid colorimetric assay that relates cell number to cytoplasmic hexosaminidase activity, we conducted drug-induced cytotoxicity experiments on human ocular fibroblasts cultured from Tenon's capsule specimens. The effects of two different agents--dimethyl sulfoxide (DMSO) or mitomycin C--on the proliferati...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713689008999599
更新日期:1990-06-01 00:00:00
abstract::Samples of aqueous humor from rabbits and humans were examined for growth effects on subconfluent monolayer fibroblast cultures from ocular and extraocular tissues. At a concentration of 20% aqueous by medium volume, both homologous and heterologous aqueous stimulated DNA synthesis in fibroblasts from both species. Th...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688209020019
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND:Spectral domain optical coherence tomography (SD-OCT) in patients can deliver retinal cross-sectional images with high resolution. This may allow the evaluation of the extent of damage to the retinal pigment epithelium (RPE) and the neurosensory retina after laser treatment. This article aims to investigate ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713680902964892
更新日期:2009-07-01 00:00:00
abstract::The cell content of the precorneal tears of eight subjects was sampled following overnight wear of a contact lens in one eye. This was compared with morning samples taken from the other eye, and afternoon samples taken several days later from both eyes. In the morning the median number of desquamated epithelial cells ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688908996380
更新日期:1989-04-01 00:00:00
abstract::Uveal melanoma develops in one of the most capillary-rich tissues of the body and is disseminated hematogenously. Knowledge of the nature and the spatiotemporal expression of angiogenic factors in uveal melanoma is essential to the development of new treatment strategies, especially with regard to improving survival. ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713680600865052
更新日期:2006-09-01 00:00:00
abstract:PURPOSE:Phoria is used in the diagnosis of binocular dysfunctions, such as convergence insufficiency. A common treatment for convergence insufficiency is vision therapy, yet it is controversial whether the phoria changes as a result of rehabilitation. Phoria can vary due to the duration and/or the type of prior visual ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713683.2012.694551
更新日期:2012-11-01 00:00:00
abstract:PURPOSE:To evaluate central corneal thickness (CCT) and corneal volume (CV) in healthy eyes using swept source anterior segment optical coherence tomography (SS-AS-OCT) and other devices. METHODS:Thirty-three healthy right eyes of 33 subjects were investigated. CCT was measured with SS-AS-OCT, rotating Scheimpflug cam...
journal_title:Current eye research
pub_type: 临床试验,杂志文章
doi:10.3109/02713683.2012.745878
更新日期:2013-05-01 00:00:00
abstract:PURPOSE:Compare the efficacy of treatment of pneumococcal keratitis with cholesterol, moxifloxacin, or a mixture of the two (moxifloxacin/cholesterol). MATERIALS AND METHODS:New Zealand white rabbits were injected intrastromally with 10(6) colony-forming units (CFU) of a clinical keratitis strain of Streptococcus pneu...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713683.2010.512114
更新日期:2010-12-01 00:00:00
abstract:PURPOSE:To compare the clinical outcomes following Descemet's membrane endothelial keratoplasty (DMEK) with 100% air tamponade versus 10% sulfur hexafluoride (SF6) tamponade. METHODS:Retrospective analysis of 108 consecutive DMEK cases subdivided by anterior chamber tamponade with 54 eyes receiving 10% SF6 and 54 eyes...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713683.2018.1431286
更新日期:2018-04-01 00:00:00
abstract::To enhance efforts directed at unraveling the role and mechanisms of leukocytes in mediating injury to corneal epithelium, an isolated bovine corneal cup was developed and evaluated. Bovine peripheral leukocytes and lysates were added to the corneal epithelial surface of isolated cornea for various periods after which...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688508999964
更新日期:1985-01-01 00:00:00
abstract:SIGNIFICANCE:Adopting a risk stratification system and appropriate listing of cases reduces the rates of intraoperative complications during phacoemulsification. Such listing would allow both safe surgery and enhance training, by ensuring an appropriately experienced surgeon is available to operate on a case or supervi...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713683.2020.1801759
更新日期:2020-07-30 00:00:00
abstract::Purpose/Aim: Corneal abrasions and nonhealing corneal epithelial defects are common conditions that cause pain and sometimes are slow to heal. Histatins, a family of histidine-rich peptides, have been implicated in oral and skin epithelial wound healing, and have been shown to be effective in vitro in human corneal ep...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1080/02713683.2018.1490772
更新日期:2018-10-01 00:00:00
abstract::The reactions of lectins with dissociated and cultured epithelial cells from hyperplastic lenses of two unrelated chick strains, Hy-1 and Hy-2, characterised by hyperplasia of the lens epithelium, and lenses of a normal genotype (N) were investigated using four different lectins. Three methods of monitoring lectin-bin...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688509000845
更新日期:1985-03-01 00:00:00
abstract::We established growth curves for Propionibacterium acnes isolates recovered from eyes with chronic postoperative endophthalmitis. The growth curve plotted the average of the duplicate bacterial concentration against time. The generation time for P. acnes calculated from the growth curves was approximately 5.1 hours. T...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713689408999875
更新日期:1994-06-01 00:00:00
abstract::We assessed in vitro the antimicrobial activity of four agents (vancomycin, teicoplanin, mupirocin, and imipenem) which are effective against Gram-positive cocci causally associated with bacterial keratitis, as well as their corneal epithelial cytotoxicity. Minimal inhibitory concentrations inhibiting 90% of strains (...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713689309001839
更新日期:1993-07-01 00:00:00
abstract:PURPOSE:We have previously described a metabolic acidosis-induced retinopathy in the neonatal rat, similar to retinopathy of prematurity (ROP). We also have reported exacerbation of oxygen-induced retinopathy by postnatal growth retardation, produced by raising newborn rats in 'expanded' litters. In the present study, ...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.1076/ceyr.22.2.133.5531
更新日期:2001-02-01 00:00:00
abstract::3-aminotriazole (3AT) is known to reduce catalase levels in ocular tissues when given intravenously or orally. Rabbits were given either 4 ml/kg of a 3M solution of 3AT intravenously or a 2% solution as drinking fluid. Intravenous 3AT administration was followed at 4 hrs by an intracameral injection of hydrogen peroxi...
journal_title:Current eye research
pub_type: 杂志文章
doi:10.3109/02713688709044504
更新日期:1987-12-01 00:00:00
abstract:PURPOSE:Frequent steroid drops represent a challenge in patient compliance. This study evaluated the safety and efficacy of 5 minute topical dexamethasone sodium phosphate-Visulex (DSP-Visulex) treatment regimen (two applications on the first week then weekly after) compared to daily prednisolone acetate 1% (PA) for no...
journal_title:Current eye research
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1080/02713683.2018.1540707
更新日期:2019-02-01 00:00:00