Abstract：
PURPOSE:Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet's membrane, and endothelium, accompanied by progressive clouding. It has been classified into three immunophenotypes--MCD types I, IA, and II--according to the serum level of sulfated keratan sulfate (KS) and immunoreactivity of the corneal tissue. Recently, mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal glucosamine N-acetyl-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of MCD. Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD. METHODS:DNA was extracted from venous blood obtained from all participants, and the coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Enzyme-linked immunosorbent assay (ELISA) was performed to assess the presence of KS in serum from the probands of MCD-affected families participating in the study. RESULTS:Six novel missense mutations--four homozygous and two compound heterozygous--were identified in the CHST6 gene. The ELISA showed that the disease in all patients participating in the study was of MCD type I, including the subtype IA. CONCLUSIONS:These novel mutations are thought to result in loss of corneal sulfotransferase function, which would account for the MCD phenotype.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
El-Ashry MF,Abd El-Aziz MM,Wilkins S,Cheetham ME,Wilkie SE,Hardcastle AJ,Halford S,Bayoumi AY,Ficker LA,Tuft S,Bhattacharya SS,Ebenezer NDkeywords:
subject
Has Abstractpub_date
2002-02-01 00:00:00pages
377-82issue
2eissn
0146-0404issn
1552-5783journal_volume
43pub_type
杂志文章abstract：PURPOSE:The purpose of the study was to assess vision-related quality of life (QoL) in patients with visual field loss (VFL) after lesions of the postchiasmatic visual pathway and to investigate the influence of VFL and reduced visual acuity (VA) on vision-related QoL. METHODS:In 312 patients with postchiasmatic damag...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-2519
更新日期：2009-06-01 00:00:00
abstract：PURPOSE:Visual sensations in patients with blindness and retinal degenerations may be restored by electrical stimulation of retinal neurons with implantable microelectrode arrays. A prospective trial was initiated to evaluate the safety and efficacy of a wireless intraocular retinal implant (EPIRET3) in six volunteers ...
journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章
doi：10.1167/iovs.08-2752
更新日期：2009-06-01 00:00:00
abstract：PURPOSE:To explore the role of integrin alpha5beta1 in proliferative vitreoretinopathy (PVR) pathogenesis by evaluating the expression alpha5beta1 on ARPE-19 cells and patient proliferative membranes, quantifying the inhibitory effects of JSM6427 (a small molecule alpha5beta1 inhibitor) on ARPE-19 cell adhesion and mig...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-3575
更新日期：2010-02-01 00:00:00
abstract：Purpose:To compare the capability of the lamina cribrosa depth (LCD) and lamina cribrosa (LC) curvature in discriminating between eyes with primary open-angle glaucoma (POAG) and healthy eyes. Methods:Seventy-seven eyes of 77 patients with POAG and 77 eyes of 77 healthy subjects who were matched for age, sex, and axia...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20802
更新日期：2017-02-01 00:00:00
abstract：PURPOSE:A prior study showed that Toll-like receptor (TLR)-5 recognizes Pseudomonas aeruginosa flagellin and triggers the production of proinflammatory cytokines in human corneal epithelial cells (HCECs). The present study was conducted to determine how the inflammatory response is modulated after TLR activation in HCE...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-0473
更新日期：2007-10-01 00:00:00
abstract：PURPOSE:To determine whether basic fibroblast growth factor (bFGF) and transforming growth factor-beta 2 (TGF-beta 2) influence the contractile activity and the expression of alpha-smooth muscle actin (alpha-SMA) in bovine lens epithelial cells (LECs). To examine whether modulation of contractile activity by these grow...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-07-01 00:00:00
abstract：:PURPOSE. To examine the biomechanical deformation of load bearing structures of the optic nerve head (ONH) resulting from raised intracranial pressure, using high definition optical coherence tomography (HD-OCT). The authors postulate that elevated intracranial pressure induces forces in the retrolaminar subarachnoid ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-6782
更新日期：2011-08-22 00:00:00
abstract：PURPOSE:Adhesion molecules play a critical role in leukocyte emigration to wound sites, but differences are evident in different vascular beds. In this study, the contributions of P-selectin to neutrophil emigration into the cornea after central epithelial abrasion were investigated. METHODS:Re-epithelialization, neut...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0381
更新日期：2006-11-01 00:00:00
abstract：PURPOSE:To examine the signal transduction pathways involved in the activation of orbital fibroblast effector functions relevant to the pathogenesis of Graves' ophthalmopathy (GO). To determine, using antisense technology, whether the c-myc protooncogene is involved in cell proliferation and glycosaminoglycan (GAG) syn...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1995-06-01 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：PURPOSE:Sildenafil increases ocular blood flow. Thus, the authors investigated if it also increases anterior chamber (AC) refilling after paracentesis. METHODS:Corriedale sheep and albino rabbits were used as animal models. Intraocular pressure (IOP) was measured, paracentesis performed on one eye, and AC refilling fo...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-8275
更新日期：2012-02-01 00:00:00
abstract：PURPOSE:To optimize a nonviral gene transfection system targeting the corneal limbal stem/progenitor cells. METHODS:A plasmid containing LacZ gene coding for beta-galactosidase (beta-gal) was transfected into human corneal epithelial cells (HCECs) and multilineage progenitor cells (MLPCs) with different transfection r...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-1263
更新日期：2008-08-01 00:00:00
abstract：PURPOSE:Acute optic neuritis (ON) is often followed by recovery of visual function. Although this recovery is mainly attributable to resolution of the acute inflammation, the redistribution of ion channels along the demyelinated membrane, and subsequent remyelination, part of it may be the result of neural plasticity. ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-4577
更新日期：2010-05-01 00:00:00
abstract：PURPOSE:To determine the role of connexin43 (Cx43) and gap junctional intercellular communication (GJIC) in the response of the human retinal pigment epithelial cell line ARPE-19 to oxidative stress. METHODS:ARPE-19 cells were treated with the chemical oxidant tert-butyl hydroperoxide (t-BOOH), and cell viability was ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-0717
更新日期：2008-02-01 00:00:00
abstract：PURPOSE:To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci. METHODS:Seventeen individuals in a large family were examined by slit lamp biomicroscopy. Blood samples were ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-3764
更新日期：2009-12-01 00:00:00
abstract：PURPOSE:To determine whether people with central visual field loss (CFL) show a smaller visual contribution to posture stabilization than people with normal vision and to determine the visual factors that predict the magnitude of visual stabilization in people with central visual field loss. METHODS:Posture informatio...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:In order to investigate the effect of traction of the vasculature on induction or acceleration of neovascularization, the chorioallantoic membranes (CAMs) of the developing chick embryo were placed under tension with 10-0 nylon sutures and subsequently examined histologically. In the initial phase of the study, CAMs f...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：:Steady-state visual evoked potentials were elicited by the appearance/disappearance of sinusoidal gratings of varying spatial frequency for both eyes of amblyopic subjects. The amblyopic eyes showed reduced responses and a phase shift relative to the nonamblyopic eyes across a wide range of spatial frequencies. Both t...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1978-06-01 00:00:00
abstract：PURPOSE:To examine the accommodative accuracy and amplitude in children with Down syndrome. Accommodation is usually assumed to be good in children and is rarely measured. METHODS:A dynamic retinoscopy technique was developed that allows rapid and reliable measures of accuracy and amplitude of accommodation in infants...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-06-01 00:00:00
abstract：PURPOSE:To investigate the role of N-cadherin and hepatocyte growth factor (HGF) in the invasion of collagen type I by human retinal pigment epithelial (RPE) cells. METHODS:RPE sheets from eight human eyes were used for characterization through Western blot analysis of the expression of cadherin in total lysates or af...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.01-1096
更新日期：2003-02-01 00:00:00
abstract：Purpose:We investigated the cross-sectional associations between macular pigment optical density (MPOD), plasma lutein (L), and zeaxanthin (Z) concentrations and cognitive function in 184 older adults of the 3-City-Bordeaux cohort. Methods:MPOD was measured using the two-wavelength autofluorescence method with a modif...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-22656
更新日期：2018-04-01 00:00:00
abstract：Purpose:To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also known as Harboyan syndrome). Furthermore, we developed a cellular model to determine if disease-associated variants induce aberrant SLC4A11 pre-mRNA splicing. ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.19-26930
更新日期：2019-07-01 00:00:00
abstract：PURPOSE:To investigate the neuroprotective effects of brain-derived neurotrophic factor (BDNF) against potassium cyanide (KCN)-induced retinal damage. METHODS:Rats were injected intravitreally with iodinated BDNF. Two days later, eyeballs were dissected into various parts, and the level of radioactivity in each part w...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1999-08-01 00:00:00
abstract：PURPOSE:It has been suggested that early menopause increases the risk of aging-macula disorder (AMD), the major cause of incurable blindness with a dry and wet late subtype, and that exposure to endogenous or postmenopausal exogenous estrogens reduces this risk. This study was undertaken to investigate whether genetic ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-0577
更新日期：2007-03-01 00:00:00
abstract：PURPOSE:To describe and evaluate a new experimental reference plane for measuring rim area in scanning laser tomography. METHODS:The experimental reference plane was positioned so that (1) it always lay entirely below the margin of the optic nerve head (ONH), (2) it remained at a set z-axis distance below the ONH in i...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.02-0039
更新日期：2003-03-01 00:00:00
abstract：:Biometry performed in patients with unilateral dense congenital cataracts and unilateral complete blepharoptosis did not show a consistent elongation of the involved eye. The antero-posterior axis of the visually deprived eye was longer than that in the normal fellow eye in some but shorter or unchanged in other patie...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1987-04-01 00:00:00
abstract：PURPOSE:To characterize retinal functional consequences of elevated intraocular pressure (IOP) in a rat model of experimental glaucoma. METHODS:Unilateral elevation of IOP was produced by hypertonic saline injection into an episcleral vein in 20 adult male Brown-Norway rats. IOP was measured in both eyes of awake anim...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.03-1411
更新日期：2004-06-01 00:00:00
abstract：PURPOSE:To study the spatial distribution of posterior pole choroidal thickness (CT) in healthy eyes using spectral domain optical coherence tomography (SD-OCT). METHODS:Fifty-nine eyes from 30 subjects with no retinal or choroidal disease were examined with high-definition (HD) OCT using macular volume cube scanning ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-8046
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:To investigate the foveal changes after repair of macula-off rhegmatogenous retinal detachment (RRD). METHODS:Prospective comparative case series. Twenty-four eyes of 24 patients with macula-off/fovea-on detachment (n = 9) and fovea-off detachment (n = 15) were studied. Serial optical coherence tomography (OCT...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-15633
更新日期：2015-01-22 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
