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 (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. METHODS:Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. RESULTS:Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10(-4)), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10(-3) and 1.48 × 10(-3), respectively) and to 7p15 of refraction (empiric P = 9.43 × 10(-4)). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10(-3)), a region previously linked to high myopia. CONCLUSIONS:The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Klein AP,Duggal P,Lee KE,Cheng CY,Klein R,Bailey-Wilson JE,Klein BEdoi
10.1167/iovs.10-7096subject
Has Abstractpub_date
2011-07-13 00:00:00pages
5220-5issue
8eissn
0146-0404issn
1552-5783pii
iovs.10-7096journal_volume
52pub_type
杂志文章abstract::Visual thresholds and rhodopsin levels were determined in nine subjects with autosomal dominant retinitis pigmentosa. The subjects fell into two groups, corresponding to two subtypes of the disease revealed by two-color, dark-adapted static perimetry. In the first of these subtypes, rod-mediated function was variably ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
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abstract::While using cobalt (Co2+) to block synaptic transmission in an in vitro preparation of chick retina, the authors observed significant changes in the DC electroretinogram (DC ERG). Cobalt (3.0 mM) increased the amplitudes of all three photoreceptor-dependent responses of the retinal pigment epithelium (RPE): the c-wave...
journal_title:Investigative ophthalmology & visual science
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doi:
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abstract::Sodium removal from the solution bathing the isolated rabbit corneal endothelium caused a reduction in both unidirectional and net flux of bicarbonate, whereas chloride withdrawal from the solution had no effect on the net bicarbonate flux but increased the unidirectional fluxes. These data correlate with previously p...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1981-10-01 00:00:00
abstract::Recent work demonstrated that a mannose receptor is involved in the phagocytosis of rod outer segments by the rat retinal pigment epithelium (RPE). In this study the binding of soluble mannose-containing ligands by human RPE explants is described. In addition, the authors report the isolation of a mannose receptor fro...
journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:1991-05-01 00:00:00
abstract:PURPOSE:To isolate and characterize ciliary body epithelial antigens reactive with a monoclonal antibody, 2B4.14.1. METHODS:A mouse monoclonal antibody generated against human corneal endothelium, 2B4.14.1 reacts with nonpigmented epithelium of human and guinea pig ciliary bodies. The ciliary body proteins reactive wi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
abstract::Checkerboard reversal stimuli were used to evoke transient pattern electroretinograms (P-ERGs) from the eyes of 14 patients with amblyopia and 14 normal subjects. In the control group, and in normal eyes of patients, pattern electroretinograms were obtained with monocular central fixation. Amblyopic eyes were examined...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-01-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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doi:
更新日期:2002-09-01 00:00:00
abstract::The scleral spur and trabecular mesh of the human eye contain approximately 5% elastic tissue. Elastic tissue forms less than 2% of the sclera. ...
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:To determine whether ciliary neurotrophic factor (CNTF) or brain-derived neurotrophic factor (BDNF) treatment leads to long-term photoreceptor survival in hereditary retinal degeneration. METHODS:An autosomal dominant feline model of rod-cone dystrophy was used throughout the study with two normal animals. In ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-11-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0392
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2539
更新日期:2009-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.03-0560
更新日期:2003-10-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1167/iovs.08-3332
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-3651
更新日期:2009-11-01 00:00:00
abstract:PURPOSE:To determine the role of the small guanosine triphosphate (GTP)-binding protein Rho in the migration of corneal epithelial cells. METHODS:The presence of the Rho target proteins Rho-associated coiled coil-containing protein kinase (ROCK)-1 and ROCK-2 in rabbit cornea was examined by immunohistochemical analysi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract::The uveal absorption of aqueous humor at two different intraocular pressures was measured in rhesus monkeys by sampling vortex vein blood during anterior chamber perfusion of Ringer's solution containing both fluorescein and 125I albumin. At 20 mm. Hg, an excess of fluorescein equivalent in amount to 0.45 microliter/m...
journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
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doi:
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journal_title:Investigative ophthalmology & visual science
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更新日期:2010-02-01 00:00:00
abstract::Ultrastructural cytochemistry was used to localize a previously undescribed retinal enzyme activity, ie, "manganese-dependent pyrimidine 5'-nucleotidase" (MDPNase) activity in retinas from rats raised in cyclic light and killed at various times in the lighting cycle. In retinas fixed during the last 3 hr of darkness, ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
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journal_title:Investigative ophthalmology & visual science
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abstract:PURPOSE:Retinal nerve fiber (RNFL) thickness and visual field loss data from patients with glaucoma were analyzed in the context of a model, to better understand individual variation in structure versus function. METHODS:Optical coherence tomography (OCT) RNFL thickness and standard automated perimetry (SAP) visual fi...
journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.08-2697
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journal_title:Investigative ophthalmology & visual science
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-07-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00