Abstract:
PURPOSE:Age-related cataract (ARC) is one of the most common causes of severe visual impairment among the elderly worldwide with four subtypes, such as cortical, nuclear, subcapsular, and mixed types. DNA damage and malfunction of DNA repair are believed to contribute to the pathogenesis of ARC. This study examined the associations of 18 single nucleotide polymorphisms (SNPs) in four DNA repair genes (BLM, WRN, ERCC6, and OGG1) with ARC in Han Chinese from the Jiangsu Eye Study, a population-based epidemiologic study. We also determined the possible functional consequence of the SNPs to DNA damage. METHODS:Eighteen SNPs in four DNA repair genes were genotyped in 789 ARC patients and 531 normal controls from the Jiangsu Eye Study. The Comet assay was to assess the extent of DNA damage in peripheral lymphocytes of selected subjects. RESULTS:The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). However, the significances of some of the above-cited associations disappeared after multiple testing corrections. WRN-rs11574311 remains associated with cortical and mixed cataract and WRN-rs2725338 with mixed cataract after multiple testing correction. We did not find any correlation between DNA damage of peripheral lymphocytes and SNP types. CONCLUSIONS:We concluded that WRN genes might be involved in ARC pathogenesis in the Han Chinese population. The associations were ARC subtype specific. These findings stress the importance of detailed phenotyping in ARC subtypes, which may be associated with different risk factors and disease mechanisms.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Su S,Yao Y,Zhu R,Liang C,Jiang S,Hu N,Zhou J,Yang M,Xing Q,Guan Hdoi
10.1167/iovs.12-10940subject
Has Abstractpub_date
2013-02-01 00:00:00pages
1201-7issue
2eissn
0146-0404issn
1552-5783pii
iovs.12-10940journal_volume
54pub_type
杂志文章abstract:Purpose:Ocular structural and functional changes, collectively termed spaceflight-associated neuro-ocular syndrome (SANS), have been described in astronauts undergoing long-duration missions in the microgravity environment of the International Space Station. We tested the hypothesis that retinal vascular remodeling, pa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.14.34
更新日期:2020-12-01 00:00:00
abstract:Purpose:To investigate diurnal variation in the length of mouse rod outer segments in vivo. Methods:The lengths of rod inner and outer segments (RIS, ROS) of dark-adapted albino mice maintained on a 12-hour dark:12-hour light cycle with light onset 7 AM were measured at prescribed times (6:30 AM, 11 AM, 3:30 PM) durin...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.3.9
更新日期:2020-03-09 00:00:00
abstract:Purpose:To evaluate the potential of lactoferrin (Lf) as a diagnostic biomarker for ocular diseases using a meta-analytic approach. Methods:All original studies reporting an estimate of the average Lf concentration in healthy subjects and those affected by ocular diseases were searched up to March 2020. The DerSimonia...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.12.9
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:To investigate in vitro the cell toxicity and antioxidant effects of two major tear substitutes, hyaluronic acid and a widely used carbomer, with and without preservative. METHODS:Chang conjunctival cells were treated with different concentrations of unpreserved or preserved carbomer 934P (0.03% and 0.3%), unp...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract:PURPOSE:Intrastromal inlays for refractive correction of presbyopia are being adopted into clinical practice. An important concern is the effect of the inlay on the long-term health of the cornea due to disturbances in the concentration profiles of metabolic species. A three-dimensional metabolic model for the cornea i...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-13844
更新日期:2014-05-15 00:00:00
abstract:PURPOSE:To examine the reliability and usefulness of a video-based Hirschberg test under clinical conditions. METHODS:The authors estimated ocular deviation in 87 patients with strabismus through automated analysis of corneal reflex displacement using a video refractor. The reproducibility of measurement, the comparis...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract:PURPOSE:To describe the dark-adaptation (DA) functions in subjects with molecularly proven achromatopsia (ACHM) using refined testing conditions with a view to guiding assessment in forthcoming gene therapy trials. METHODS:The DA functions of nine subjects with ACHM were measured and compared with those of normal obse...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-14910
更新日期:2014-08-28 00:00:00
abstract:PURPOSE:RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy. This project was designed to determine the amount of regenerable opsin in Rpe65-/- mice during developmen...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-0567
更新日期:2003-01-01 00:00:00
abstract:Purpose:To investigate the chromatic characteristics and intensity-response function of light-induced reflex lacrimation and its correlation with the melanopsin-driven postillumination pupil response (PIPR). Methods:Eleven visually normal participants completed the experiment. Lacrimation was measured in one eye by pl...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-21285
更新日期:2017-03-01 00:00:00
abstract:PURPOSE:To characterize the thickness profile of the corneal epithelium and the Bowman's layer across the horizontal meridian. METHODS:Forty-four eyes of 22 healthy subjects were investigated in this study. Ultra-high resolution anterior segment spectral domain-optical coherence tomography (SD-OCT) was used to assess ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4748
更新日期:2011-06-01 00:00:00
abstract:PURPOSE:To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). METHODS:Thirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15247
更新日期:2014-09-04 00:00:00
abstract:PURPOSE:The purpose of this study was to investigate the mutational incidence and spectrum of mitochondrial ND1 gene in subjects with Leber's hereditary optic neuropathy (LHON). METHODS:A cohort of 1281 Han Chinese probands and 478 control subjects underwent sequence analysis of mitochondrial (mt)DNA. Resultant varian...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
doi:10.1167/iovs.16-19243
更新日期:2016-05-01 00:00:00
abstract:PURPOSE:The authors describe a method for estimating the spheric aberration (SA) of the human crystalline lens in vivo. METHODS:This method was based on a comparison of the measured change in contrast sensitivity (delta log (CSF)) of the eye and the calculated change in modulation transfer function of the cornea with ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
abstract:PURPOSE:To compare the risk factors for bilateral and unilateral disease in normal-tension glaucoma (NTG). METHODS:The study analyzed data from consecutive NTG patients with either bilateral (n = 194) or unilateral (n = 193) disease. Multivariate regression models were used to evaluate the following potential risk fac...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-1886
更新日期:2009-03-01 00:00:00
abstract:PURPOSE:Evidence suggests that altered metabolism of amyloid precursor protein (APP) may play a role in the pathophysiology of retinal ganglion cell (RGC) death in the etiology of glaucoma. The authors sought to determine the distribution of APP and amyloid-beta (Abeta) in DBA/2J glaucomatous mouse retinas. METHODS:Th...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-1249
更新日期:2007-11-01 00:00:00
abstract::The purpose of this study was to determine whether unilateral gonadectomy caused any change in intraocular pressure. Repeated measurements in 22 male and nine female rabbits after unilateral gonadectomy were made by three different methods of determining intraocular pressure. We were unable to find a decrease in intra...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract::Effects of substance P (SP) and vasoactive intestinal peptide (VIP) on motor function of bovine sphincter, dilator, and ciliary muscles were investigated pharmacologically, with and without field stimulation. SP contracted the sphincter and the maximum response was only about 25% of that in the presence of equimolar d...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-12-01 00:00:00
abstract:PURPOSE:To describe the phenotype caused by a retinol deficiency in a family with compound heterozygous missense mutations (Ile41Asn and Gly75Asp) in the gene for serum retinol binding protein (RBP). METHODS:The two affected sisters, 17 (BR) and 13 (MR) years old, were examined clinically and with perimetry, color vis...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Electroretinographic studies of myctalopic Appaloosa horses demonstrated photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. The phototopic abnormalities consisted of reduced b-wave amplitudes and slower than normal b-wave im...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1978-08-01 00:00:00
abstract:PURPOSE:Methylprednisolone (MP) is commonly used to treat traumatic optic neuropathy and optic neuritis, but its benefit in terms of neuronal survival remains controversial. The aim of this study was to investigate the effects of MP on retinal ganglion cell (RGC) survival and visual function after ischemia in rats. ME...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-1869
更新日期:2008-11-01 00:00:00
abstract:Purpose:To investigate foveal avascular zone (FAZ) changes in the superficial (SCP) and deep (DCP) capillary plexuses in beta-thalassemia major (BTM) patients, as shown in optical coherence tomography angiography. Methods:Nonrandomized, comparative case series of 54 eyes of 27 BTM patients and 46 eyes of 23 healthy co...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.19-27291
更新日期:2019-09-03 00:00:00
abstract:PURPOSE:To investigate corneal sensitivity to selective mechanical, chemical, heat, and cold stimulation in patients with fibromyalgia (FM). METHODS:Twenty patients with FM (18 women, 2 men; 51.9 +/- 2.3 years old) and 18 control subjects (16 women, 2 men; 51.7 +/- 2.4 years) participated voluntarily in the study. Sub...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-3083
更新日期:2009-09-01 00:00:00
abstract:PURPOSE:To test whether retinal pigment epithelial (RPE) cells are able to induce myeloid-derived suppressor cell (MDSC) differentiation from bone marrow (BM) progenitors. METHODS:BM cells were cocultured with or without RPE cells in the presence of GM-CSF and IL-4. Numbers of resultant MDSCs were assessed by flow cyt...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8377
更新日期:2012-02-23 00:00:00
abstract:PURPOSE:In amblyopia, neuronal deficits deteriorate spatial vision including visual acuity, possibly because of a lack of use-dependent fine-tuning of afferents to the visual cortex during infancy; but temporal processing may deteriorate as well. METHODS:Temporal, rather than spatial, resolution was investigated in pa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1604
更新日期:2009-11-01 00:00:00
abstract:PURPOSE:To investigate the application of anterior corneal and ocular aberrations in detecting mildly ectatic corneas. METHODS:This study retrospectively reviewed the data of 220 eyes separated into three groups by the NIDEK Corneal Navigator System automated corneal classification software: normal (N) (n = 123); form...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8803
更新日期:2012-05-17 00:00:00
abstract::Tunicamycin (TM), a selective inhibitor of dolichylphosphate-dependent oligosaccharide biosynthesis, effectively blocks glycosylation, but not synthesis, of opsin, the rod visual pigment apoglycoprotein. In parallel with this inhibition, vesicular membrane material accumulates in the compartment between rod inner and ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1986-11-01 00:00:00
abstract:PURPOSE:Orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of motility abnormalities in congenital fibrosis of the extraocular muscles type 3 (CFEOM3), a disorder resulting from missense mutations in TUBB3, which encodes neuron-specific beta-tubulin isotype III. METHODS:Ophthalmic ex...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5438
更新日期:2010-09-01 00:00:00
abstract:PURPOSE:To evaluate the effects of unilateral, stereotactic, posteroventral pallidotomy on saccadic eye movements in patients with Parkinson disease (PD). METHODS:Eye movements of 31 patients with moderate to advanced PD were recorded with an infrared system 1 month before and 3 months after pallidotomy. Two kinds of ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract:PURPOSE:Macular drusen are hallmarks of age-related maculopathy (ARM), but these focal extracellular lesions also appear with age in the peripheral retina. The present study was conducted to determine regional differences in morphology that contribute to the higher vulnerability of the macula to advanced disease. METH...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1466
更新日期:2008-03-01 00:00:00
abstract:PURPOSE:To test the validity of the color component subtraction method, a new objective technique of measuring nuclear cataract, and to correlate the tangent values of the different degrees of nuclear opacities to their corresponding subjective nuclear cataract grading using the Lens Opacities Classification System II ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00