Abstract:
PURPOSE:To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. METHODS:Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using two-point linkage analysis of the genotyping data. RESULTS:The maximum lod score, 4.05, was obtained for the marker D2S2333. Proximal and distal crossovers were observed with markers D2S286 and D2S1790, respectively. These crossovers define the critical disease locus to an interval of approximately 9 centimorgans (cM). CONCLUSIONS:Linkage analysis identified a novel locus for adNCat on chromosome 2p12 in a Pakistani family. A genome database analysis of the target interval is being undertaken to identify candidate gene(s) for the disease.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Khaliq S,Hameed A,Ismail M,Anwar K,Mehdi SQkeywords:
subject
Has Abstractpub_date
2002-07-01 00:00:00pages
2083-7issue
7eissn
0146-0404issn
1552-5783journal_volume
43pub_type
杂志文章abstract:PURPOSE:Sarcoidosis is a heterogeneous and multisystem granulomatous disorder. The etiology still is uncertain, but the disease currently is thought to be triggered by various genetic as well as environmental factors. Recently, an association between sarcoidosis and the butyrophilin-like 2 (BTNL2) gene located in close...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-10491
更新日期:2012-10-11 00:00:00
abstract:PURPOSE:To develop an imaging technique that maps the distribution of free cystine in the rat lens at subcellular resolution and enables cystine accumulation to be compared with the expression of the cystine-glutamate exchanger (Xc-). METHODS:Whole lenses were fixed, cryoprotected, and then cryosectioned in either an ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0861
更新日期:2007-03-01 00:00:00
abstract:PURPOSE:Lectin studies have shown that in the rabbit corneal epithelium, alpha-2,3 sialylation of O-linked glycans differentiates limbal and corneal epithelial cell phenotypes. Because sialic acid can be regulated at the level of the expression of sialyltransferases (STs), the purpose of the present study was to analyz...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-05-01 00:00:00
abstract:PURPOSE:The purpose of this study was to demonstrate the efficacy of the digital fluoroscopy system (DFS) for the in vivo assessment of pharmacologically induced posterior vitreous detachment (PVD) and vitreous liquefaction in a rabbit model. METHODS:Twenty eyes from 10 New Zealand white rabbits were divided into 5 gr...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-16137
更新日期:2015-07-01 00:00:00
abstract:PURPOSE:To investigate the effects of lomerizine, a Ca2+ antagonist, on the ocular tissue circulation in rabbits and on the circulation in the optic nerve head (ONH) and choroid in healthy volunteers. METHODS:Lomerizine (0.1 [n=10] or 0.3 [n=11] mg/kg) or vehicle solution (n=11) was injected intravenously in urethane-...
journal_title:Investigative ophthalmology & visual science
pub_type: 临床试验,杂志文章
doi:10.1167/iovs.02-1173
更新日期:2003-11-01 00:00:00
abstract:PURPOSE:To examine the relationship between retinal vascular geometric parameters with retinal nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer (GC-IPL) parameters in nonglaucomatous subjects. METHODS:Study subjects were identified from the Singapore Chinese Eye Study (SCES), a population-based survey ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12796
更新日期:2013-11-05 00:00:00
abstract:PURPOSE:To investigate cytokine production by leukocytes in aqueous humor (AH) during corneal graft rejection and nitric oxide (NO) production by macrophages as a potential mediator of graft damage. METHODS:Rats received corneal allotransplants and were killed during acute rejection. Leukocytes in AH that expressed tu...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-1962
更新日期:2008-11-01 00:00:00
abstract:PURPOSE:Strabismic amblyopia is typically associated with several visual deficits, including loss of contrast sensitivity in the amblyopic eye and abnormal binocular vision. Binocular summation ratios (BSRs) are usually assessed by comparing contrast sensitivity for binocular stimuli (sens(BIN)) with that measured in t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0194
更新日期:2007-11-01 00:00:00
abstract:PURPOSE:In humans, mutations in the gene encoding myosin VIIa can cause Usher syndrome type 1b (USH1B), a disease characterized by deafness and retinitis pigmentosa. Myosin VIIa is also the gene responsible for the inner ear abnormalities at the shaker1 (sh1) locus in mice. To date, none of the sh1 alleles examined hav...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract:PURPOSE:To investigate the effect of high glucose on the proliferation of human retinal endothelial cells (HRECs) and to elucidate the possible mechanisms of antiangiogenic activity of curcumin, a diferuloylmethane. METHODS:Human retinal endothelial cells were isolated from the retinal tissue obtained from human donor...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0580
更新日期:2006-05-01 00:00:00
abstract:PURPOSE:Nd:YAG laser photodisruption with nanosecond (ns) pulses in the millijoule range is an established tool for intraocular surgery. This study investigates tissue effects in cornea, lens, and retina to assess whether picosecond (ps) pulses with energies in the microjoule range can increase the surgical precision, ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract:PURPOSE:Lens case hygiene practices are important in maintaining safe contact lens wear. However, the effectiveness of various lens case cleaning practices have not been evaluated and compared. This in vitro study aimed to evaluate and compare the efficacy of cleaning practices that are most commonly carried out by len...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5796
更新日期:2010-12-01 00:00:00
abstract:PURPOSE:Interphotoreceptor retinoid-binding protein (IRBP) binds and transports retinoids and fatty acids in the interphotoreceptor space (IPS). To understand the relationship between the protein structure and its functions requires bulk quantities of human IRBP. The authors sought to produce recombinant human IRBP (rh...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract:PURPOSE:To prepare binary transgenic mouse lines that overexpress reporter genes in a corneal-epithelium-specific manner when induced by doxycycline. METHODS:A gene-targeting construct containing an internal ribosomal entry site-reverse tetracycline transcription activator (IRES-rtTA) cassette was inserted into the Kr...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.04-1464
更新日期:2005-06-01 00:00:00
abstract:PURPOSE:We identified a topographic relation of localized reticular pseudodrusen (RPD) to choroidal watershed zones (CWZ) and to changes in choroidal volumes (CV). METHODS:We included 30 eyes of 30 patients with RPD in an area <10 mm(2) and no other retinal alteration (76.7 ± 6.9 years). Patients underwent spectral-do...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-11923
更新日期:2013-05-07 00:00:00
abstract:PURPOSE:Overloading of unfolded or misfolded proteins in the endoplasmic reticulum (ER) can cause ER stress and activate the unfolded protein response (UPR) in the cell. The authors tested whether transgene overexpression in the mouse lens would activate the UPR. METHODS:Transgenic mice expressing proteins that either...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5650
更新日期:2011-04-04 00:00:00
abstract:PURPOSE:Elimination of myofibroblasts after repair of corneal injury is essential for the maintenance of corneal transparency. In the current study, the role of platelet-activating factor (PAF) in combination with tumor necrosis factor (TNF)-alpha in corneal myofibroblast apoptosis was explored. METHODS:Porcine cornea...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0581
更新日期:2006-03-01 00:00:00
abstract:PURPOSE:To examine retinal function using the full-field electroretinogram (ERG) during and after acute intraocular pressure (IOP) elevation in wild-type mice. METHODS:IOP was elevated by anterior chamber cannulation in wild-type C57/BL6 mice. The pressure-function relationship was determined by IOP elevation in steps...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-3814
更新日期:2009-12-01 00:00:00
abstract::Nonenzymatic glycated lens alpha-crystallin, isolated from human diabetic cataract lenses, does not differ in subunit size and secondary structure from nonglycated alpha-crystallin. The tertiary structure, however, has undergone a significant change as reflected in the changes of near-ultraviolet (UV) circular dichroi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-05-01 00:00:00
abstract:PURPOSE:To compare a multisampling suprathreshold strategy with conventional suprathreshold and full-threshold strategies in detecting localized visual field defects and in quantifying the area of loss. METHODS:Probability theory was applied to examine various suprathreshold pass criteria (i.e., the number of stimuli ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-1036
更新日期:2003-06-01 00:00:00
abstract::We have investigated suprathreshold contrast sensitivity and binocular interactions in strabismic and anisometropic amblyopes using a reaction time paradigm. For every spatial frequency, reaction time increased as the grating contrast decreased. At all spatial frequencies and contrast values the reaction times using t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1979-07-01 00:00:00
abstract:PURPOSE:The betaB2-crystallin gene (Crybb2) is expressed at an increasing level in the postnatal lens cortex. It has been assumed that the gene functions as structural protein, although this has not been directly tested. Here the in vivo functions of betaB2-crystallin are examined via the generation of mice with a targ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2179
更新日期:2008-12-01 00:00:00
abstract:PURPOSE:Vanishing optotypes (VOs) are pseudo high-pass letters whose mean luminance matches the background so that they "vanish" when the recognition acuity threshold is reached in the fovea. We determined the effect of increasing blur on acuity for these optotypes and conventional letters, in both foveal and extrafove...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-9864
更新日期:2012-10-09 00:00:00
abstract:PURPOSE:Videokeratography of early keratoconus may be difficult to distinguish from contact lens-induced corneal warpage, even by experienced examiners. Furthermore, topographic irregularity may be judged inconsistently if quantitative standards are not applied. Quantitative measures based on videokeratographic data we...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract:PURPOSE:Fibroblast growth factor-binding proteins (FGF-BPs) have been identified recently in blood and other biologic fluids and have been shown to be identical to a truncated form of the high-affinity cell surface FGF receptor. The authors examined the hypothesis that FGF-BPs also are present in human vitreous fluid. ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::Contrast sensitivity functions for sinusoidal gratings of different spatial frequencies and stimulus durations have been determined for both eyes of amblyopic subjects. For both long and short stimulus durations, the entire contrast sensitivity function of the amblyopic eyes is lower than that of the nonamblyopic eyes...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Hypothesis-driven science is expected to result in a continuum of studies and findings along a discrete path. By comparison, serendipity can lead to new directions that branch into different paths. Herein, I describe a diverse series of findings that were motivated by hypotheses, but driven by serendipity. I summarize...
journal_title:Investigative ophthalmology & visual science
pub_type:
doi:10.1167/iovs.11-8330
更新日期:2011-09-29 00:00:00
abstract:PURPOSE:This study evaluated the role for poly(ADP-ribose) polymerase (PARP) in diabetes-induced cataractogenesis and early retinal changes. METHODS:Control and streptozotocin (STZ)-diabetic rats were treated with or without the PARP inhibitors 1,5-isoquinolinediol (ISO; 3 mg kg(-1) d(-1) intraperitoneally) and 10-(4-...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2191
更新日期:2009-04-01 00:00:00
abstract:PURPOSE:To characterize the chemokines and chemokine receptors that mediate the effect of proinflammatory cytokines, interleukin (IL)-1 and tumor necrosis factor (TNF)-alpha, on the recruitment of MHC class II(+) Langerhans cells (LCs) in the corneal epithelium. METHODS:A standard model for corneal LC recruitment, app...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.04-0658
更新日期:2005-04-01 00:00:00
abstract:PURPOSE:To examine the rate of retinal ganglion cell (RGC) layer and retinal nerve fiber layer (RNFL) changes in nonoptic neuritis (NON) eyes of relapsing remitting multiple sclerosis (RRMS) patients, and to find a specific imaging parameter useful for identifying disease progression. METHODS:Forty-five consecutive RR...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-19047
更新日期:2016-04-01 00:00:00