Abstract：
PURPOSE:Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is attributable to FZD4 mutations. METHODS:PCR products were generated from genomic DNA with primers designed to amplify the coding sequence of FZD4. The PCR products were screened for mutations by single-strand conformational polymorphism-heteroduplex analysis (SSCP-HA) and by direct sequencing. RESULTS:In total, eight mutations were identified, seven of which were novel. Three were deletions (c957delG, c1498delA, and c1501-1502delCT), one was a nonsense mutation (Q505X), and four were missense mutations (G36D, M105T, M157V, and S497F). CONCLUSIONS:Eight mutations have been identified in the FZD4 gene in a cohort of 40 unrelated patients with FEVR. This result indicates that FZD4 mutations are responsible for only 20% of FEVR index cases and suggests that the other FEVR loci may account for more cases than previously anticipated.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Toomes C,Bottomley HM,Scott S,Mackey DA,Craig JE,Appukuttan B,Stout JT,Flaxel CJ,Zhang K,Black GC,Fryer A,Downey LM,Inglehearn CFdoi
10.1167/iovs.03-1044keywords:
subject
Has Abstractpub_date
2004-07-01 00:00:00pages
2083-90issue
7eissn
0146-0404issn
1552-5783journal_volume
45pub_type
杂志文章abstract：PURPOSE:To describe hereditary macular degeneration observed in the cynomolgus monkey (Macaca fascicularis), which shares phenotypic features with age-related macular degeneration in humans, and to test the involvement of candidate gene loci by mutation screening and linkage analysis. METHODS:Ophthalmic examinations w...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.04-1031
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abstract：PURPOSE:To investigate functional interactions between the phosphatidylinositol 3-kinase (PI3K)/Akt pathway and the nuclear factor erythroid 2-related factor 2 (Nrf2)-dependent antioxidant system in cultured human retinal pigment epithelium (RPE) cells. METHODS:Cultured ARPE-19 cells were treated with different concen...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-1099
更新日期：2008-04-01 00:00:00
abstract：:The ability of human and rabbit ocular tissues to degrade prostaglandins (PGs) was compared by following the metabolic fate of PGF2 alpha. No metabolism was observed in vitro after 5.0 hr incubation with human cornea, iris/ciliary body, or sclera, as indicated by the absence of a decrease in [3H]-PGF2 alpha concentrat...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1990-07-01 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：:Retinal leukocyte velocity and density were estimated using blue-field entoptic imaging techniques in a controlled double-masked study to determine the relative effects of oxygen and carbon dioxide on perimacular hemodynamics in single eyes of ten normal human subjects. Mild hypoxia (inspiration of 16% O2) did not sig...
journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1992-05-01 00:00:00
abstract：PURPOSE:To assess corneal epithelial cell survival after keratoplasty. METHODS:Corneal impression cytology (CIC) was performed on sex-mismatched corneal transplants. Fluorescent in situ hybridization (FISH) with sex chromosome-specific probes was performed to identify epithelial cell mosaicism and therefore allocate t...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-5394
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abstract：PURPOSE:This study was conducted to define whether pigment epithelial-derived growth factor (PEDF), together with docosahexaenoic acid (DHA), enhances the synthesis of neuroprotectin D1 (NPD1) and the regeneration of corneal nerves damaged after surgery. METHODS:Corneal stromal dissection was performed in the left eye...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-3641
更新日期：2010-02-01 00:00:00
abstract：PURPOSE:We compared the anti-fibrotic effects of single versus multiple postoperative injections of saratin following glaucoma filtration surgery (GFS) in the rabbit model. METHODS:The experiment was in two parts. To determine the optimal frequency for postoperative therapy, seven New Zealand White (NZW) rabbits recei...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.12-10120
更新日期：2012-11-19 00:00:00
abstract：:Chloride ion (Cl-) secretion by the rabbit corneal epithelium involves a catecholamine-stimulated Cl- conductance at the apical membrane, but the characteristics of the ion channel(s) responsible are unknown. A primary cell culture system was developed that induces stratified epithelial differentiation of rat and rabb...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-15725
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abstract：PURPOSE:To test whether in an animal model of proliferative vitreoretinopathy (PVR) the Müller glial cells displayed an upregulation of purinergic P2 receptor-mediated responses. METHODS:PVR was induced by intravitreal injection of the proteolytic enzyme, dispase, in the eyes of adult rabbits. The developing PVR was e...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2002-03-01 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：:Vascular luminal castings of rabbit eyes were microdissected and studied with the scanning electron microscope to delineate the anatomy of the ciliary body microvasculature. We found regional microvascular differences corresponding to well known gross topographical and ultrastructural differences that may indicate reg...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1987-08-01 00:00:00
abstract：:We investigated the possibility that the spatial imprecision of amblyopic eyes can be accounted for by the relative insensitivity to contrast that has been documented for these eyes. Thresholds for the discrimination of spatial misalignment, a measure of spatial uncertainty, were determined for three amblyopes and one...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1988-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.04-1483
更新日期：2005-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.16-20630
更新日期：2016-12-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
abstract：PURPOSE:In normal eyes and in diseases such as age-related macular degeneration (AMD) and proliferative vitreoretinopathy (PVR), retinal pigment epithelial (RPE) cell survival is critically important. Bcl-x(L) has been shown to be among the most highly expressed survival factors in cultured human RPE cells. In the curr...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.06-1145
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2000-01-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
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更新日期：2003-08-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1997-04-01 00:00:00
abstract：PURPOSE:Antimicrobial peptides (AMPs) are multifunctional host defense molecules. Human beta-defensin 9 (HBD9) has previously been shown to be downregulated during ocular surface (OS) infection or inflammation. Here, the authors aimed to study localization of HBD9 protein in different OS regions and to determine the ro...
journal_title：Investigative ophthalmology & visual science
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更新日期：2010-09-01 00:00:00
abstract：PURPOSE:To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. METHODS:Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages 2-42; eight patients had serial data, average interval 4.5 years) to...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-18860
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To investigate spatial anisotropies in the peripheral visual field of axially myopic eyes, in an attempt to distinguish between models of isotropic and anisotropic ocular stretching. METHODS:Stimuli consisted of two high-contrast Gaussian patches presented in one of four orientations (90 degrees, 180 degrees, ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.04-0127
更新日期：2005-02-01 00:00:00
abstract：PURPOSE:This study observed biofilm formation by Pseudomonas aeruginosa and Staphylococcus aureus in contact lens cases and investigated the inhibitory effects of 2,2'-dipyridyl (2DP) and 1,2,3,4,6-penta-O-galloyl-b-D-glucopyranose (PGG). METHODS:Biofilm formation of P. aeruginosa ATCC 9027 and S. aureus ATCC 25923 an...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-17723
更新日期：2015-11-01 00:00:00
abstract：PURPOSE:This study investigated the relationship between amplitude and peak velocity of saccadic eye movements (the so-called main sequence) and the intra-individual variability of the main sequence. METHODS:Saccadic amplitudes and peak velocities were measured twice in 58 healthy subjects with an infrared reflection ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1993-12-01 00:00:00
abstract：PURPOSE:Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia ...
journal_title：Investigative ophthalmology & visual science
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更新日期：2011-07-13 00:00:00
