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 vision tests, dark adaptometry, rod- and cone-isolated electroretinograms (ERGs), multifocal ERGs, electrooculograms (EOGs), and laboratory tests. RESULTS:There were no complaints besides night vision problems and no history of systemic disease. Visual acuity was reduced to 20/40 (BR) and 20/25 (MR). Anterior segments were normal except for a discrete iris coloboma. Both patients showed a typical "fundus xerophthalmicus," featuring a progressed atrophy of the retinal pigment epithelium. Dark adaptation thresholds were elevated. In the scotopic ERG, only reduced mixed responses were recordable. The photopic ERG was reduced in BR and normal in MR; implicit times were highly (BR) to slightly (MR) elevated. There was no (BR) to little (MR) light reaction in the EOG. All-trans retinol levels were 0.19 microM and 0.18 microM (normal range, 0.7-1.5 microM) for BR and MR, respectively, and did not increase in a dose-response test. RBP was below detection threshold, and retinyl esters were normal. CONCLUSIONS:Both affected siblings had no detectable serum RBP, one sixth of normal retinol levels, and normal retinyl esters. The retinal pigment epithelium was severely affected, but besides acne there were no changes to other organs. This gives evidence for an alternative tissue source of vitamin A, presumably retinyl esters from chylomicron remnants. The normal retinol levels in the tear fluid explain the lack of xerophthalmia. However, considering the role of RBP in the tear fluid and, during development, in the yolk sac there is also evidence that there are organ-specific RBP forms not affected by the genetic defect.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Seeliger MW,Biesalski HK,Wissinger B,Gollnick H,Gielen S,Frank J,Beck S,Zrenner Esubject
Has Abstractpub_date
1999-01-01 00:00:00pages
3-11issue
1eissn
0146-0404issn
1552-5783journal_volume
40pub_type
杂志文章abstract:PURPOSE:To determine whether microtubule- and actin-altering drugs, which have been shown to increase aqueous humor outflow, cause cellular contraction in human trabecular meshwork (HTM) cells. METHODS:HTM cells were plated in culture dishes containing a polymerized deformable silicone substrate. After 48 hours, the d...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00
abstract::PURPOSE. The purpose of the study was to investigate the effects of hyperglycemia on EGFR (epidermal growth factor receptor)-mediated wound response and signal transduction in the corneal epithelium of rats with type I diabetes mellitus (DM). METHODS. Corneal epithelia were removed from streptozotocin (STZ)- and weigh...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5670
更新日期:2011-05-17 00:00:00
abstract:PURPOSE:To determine the location of parasympathetic neurons that innervate the meibomian glands in rats. METHODS:The B subunit of cholera toxin (CTB), fast blue, and a retrograde transneuronal tracer, the Bartha strain of pseudorabies virus (PRV-Ba), were injected into the upper eyelids of adult Sprague-Dawley rats a...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-10-01 00:00:00
abstract::The rates of corneal penetration and efflux of phenylephrine (PE) and its metabolites were found to be limited by the epithelium. The rate constant for corneal penetration as measured in a lucite block perfusion system was 1.06 X 10(-3) hr-1 when the epithelium was present and 1.25 X 10(-2) hr-1 when the epithelium wa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract:PURPOSE:We compared the reproducibility and mutual agreement of the subfoveal choroidal thickness measurements by expert raters and an automated algorithm in enhanced depth imaging optical coherence tomography (EDI-OCT) images of eyes with nonneovascular age-related macular degeneration (AMD). METHODS:We recruited 44 ...
journal_title:Investigative ophthalmology & visual science
pub_type: 临床试验,杂志文章
doi:10.1167/iovs.12-11521
更新日期:2013-04-23 00:00:00
abstract:PURPOSE:To compare spectral-domain optical coherence tomography (SD-OCT) standard structural measures and a new three-dimensional (3D) volume optic nerve head (ONH) change detection method for detecting change over time in severely advanced-glaucoma (open-angle glaucoma [OAG]) patients. METHODS:Thirty-five eyes of 35 ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
doi:10.1167/iovs.15-18929
更新日期:2016-07-01 00:00:00
abstract:PURPOSE:Previous studies assessed the associations between Helicobacter pylori infection and open-angle glaucoma (OAG) and produced inconsistent results. Therefore, we performed a meta-analysis to evaluate the effects of H. pylori infection on OAG risk. METHODS:Relevant studies that reported the associations between H...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,meta分析,评审
doi:10.1167/iovs.15-17059
更新日期:2015-08-01 00:00:00
abstract:Purpose:To clarify the distinct molecular pathogenesis of central serous chorioretinopathy (CSC) and pachychoroid neovasculopathy (PNV). Methods:Aqueous humor (AH) was collected from 18 acute CSC, 20 chronic CSC, and 20 PNV patients. Concentrations of 30 cytokines in the AH were analyzed using a multiplex bead immunoa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-25517
更新日期:2018-12-03 00:00:00
abstract::The relationship between intraocular and systemic blood pressures was investigated in a prospective study of 572 middle-aged men. There was no consistent relationship between intraocular pressure at first visit and age. Subjects with an intraocular pressure greater than 20 mm Hg had a significantly higher systolic blo...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-11-01 00:00:00
abstract:PURPOSE:We showed previously that single nucleotide polymorphism (SNP) rs662702 in PAX6 may be located in a microRNA-328 binding site that causes susceptibility to high myopia. Our study was done to elucidate the role of PAX6 and its relationship with microRNA-328 in myopia. METHODS:A luciferase assay was used to conf...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-9272
更新日期:2012-05-31 00:00:00
abstract:PURPOSE:The association of age and blood pressure (BP) with retinal vessel change is widely reported, with inverse relationships between retinal arteriolar and venular diameter and increasing age and elevated BP. No previous studies have dissected the separate effects of age and BP on the diameter of retinal vessels. ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0893
更新日期:2007-02-01 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:The adult lacrimal gland (LG) is highly regenerative and is able to repair itself even after substantial damage; however, this ability to regenerate is lost with the development of dry eye conditions in chronically inflamed LGs.This study compares changes in the cell adhesion and cell matrix molecules and stem ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-17477
更新日期:2015-12-01 00:00:00
abstract:PURPOSE:Anti-vascular endothelial growth factor (anti-VEGF) drugs have dramatically improved the treatment of neovascular AMD. In pivotal studies, almost 90% of patients maintain vision, with approximately 30% showing significant improvement. Despite these successes, 10% to 15% of patients continue to lose vision, even...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6550
更新日期:2011-06-08 00:00:00
abstract::PURPOSE. To define the role of the serine protease HTRA1 in age-related macular degeneration (AMD) by examining its expression level and identifying its potential substrates in the context of primary RPE cell extracellular milieu. METHODS. Primary RPE cell cultures were established from human donor eyes and screened f...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-4853
更新日期:2010-07-01 00:00:00
abstract:PURPOSE:The expression of the lens fiber cell integral membrane proteins MP20, the alpha 3 gap junction protein (connexin 46), and MP26 (MIP) was determined both during development of the bovine fetal lens and in different animal species. METHODS:The relative levels of the mRNA species coding for these proteins was de...
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 characterize inheritance, penetrance, and trinucleotide repeat expansion stability in Fuchs endothelial corneal dystrophy (FECD). Methods:One thousand unrelated and related subjects with and without FECD were prospectively recruited. CTG18.1 repeat length (CTG18.1L) was determined via short tandem repeat as...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.62.1.17
更新日期:2021-01-04 00:00:00
abstract:PURPOSE:We previously showed that pre-exposure of the cornea to Toll-like receptor (TLR)5 ligand flagellin induces strong protective innate defense against microbial pathogens and hypothesized that flagellin modulates gene expression at the transcriptional levels. Thus, we sought to determine the role of one transcript...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12453
更新日期:2013-11-15 00:00:00
abstract:PURPOSE:To detect the expression of cell adhesion molecules (CAMs), including beta integrins, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1, leukocyte-endothelial cell adhesion molecule-2, E-cadherin, and CD44, in cultured lens epithelial cells (LECs) of human cataracts. To show that LEC...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1997-03-01 00:00:00
abstract:PURPOSE:Mutations in the mitochondrial dynamin-related GTPase OPA1 cause autosomal dominant optic atrophy (ADOA), but the pathophysiology of this disease is unknown. As a first step in functional studies, this study was conducted to evaluate the expression of Opa1 in whole retina and in isolated retinal ganglion cells ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.03-1407
更新日期:2005-11-01 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:PURPOSE:To design a contrast sensitivity perimetry (CSP) protocol that decreases variability in glaucomatous defects while maintaining good sensitivity to glaucomatous loss. METHODS:Twenty patients with glaucoma and 20 control subjects were tested with a CSP protocol implemented on a monitor-based testing station. In ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1205
更新日期:2008-07-01 00:00:00
abstract::An ultrasonic pachometer was used to measure the central, mid-peripheral, and peripheral thickness in 17 locations across the corneas of 12 adult New Zealand Albino rabbit eyes. The mean thickness at each location was entered into a microcomputer to generate a three-dimensional plot of corneal thickness. The rabbit co...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-10-01 00:00:00
abstract:PURPOSE:Elevated levels of C-reactive protein (CRP), a proinflammatory marker, are associated with systemic vascular disorders. In addition, clinical studies have implicated that elevated CRP is an independent risk factor for diabetic retinopathy and age-related macular degeneration. However, the direct effect of CRP o...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1387
更新日期:2008-05-01 00:00:00
abstract:PURPOSE:To assess the variability in choroidal laser Doppler flowmetry (LDF). METHODS:Five measurements of choroidal blood flow were obtained on 5 days in both eyes of 10 subjects. Reliability, sensitivity, and sample size calculations were performed. Yield, the intensity of the returning light (direct current [DC]) d...
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 investigate the impact of ambient room lighting on the magnitude of flicker light-induced retinal vasodilations in healthy individuals. METHODS:Twenty healthy nonsmokers participated in a balanced 2 × 2 crossover study. Retinal vascular imaging was performed with the dynamic vessel analyzer under reduced or...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-14940
更新日期:2014-08-07 00:00:00
abstract:PURPOSE:To characterize retinal autoantigens in patients with cancer-associated retinopathy (CAR). METHODS:The sera of 4 patients with CAR were examined by western blot analysis, and the proteins specifically probed were partially purified from bovine retinas and identified by Edman sequence analysis of the proteolyti...
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:Although normal function of the lacrimal gland is essential for vision (and thus for human well-being), the lacrimal gland remains rather poorly understood at a molecular level. The purpose of this study was to identify new genes and signaling cascades involved in lacrimal gland development. Methods:To identif...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20315
更新日期:2017-02-01 00:00:00
abstract:PURPOSE:The purpose of the present study was to investigate metabolic changes in different compartments of the rat lens (anterior, nuclear, posterior, and equatorial) after exposure to an acute double threshold dose of ultraviolet-B radiation (UVR-B) by using high-resolution magic angle spinning (HR-MAS) (1)H nuclear m...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-1633
更新日期:2006-12-01 00:00:00
abstract::Quantitative autoradiography was used to study the incorporation of 3H-thymidine into the retina of albino rats following in vivo exposure to 300-nm radiation. Relative to background labeling in unexposed eyes, there was 8-20 times as much label per unit area in the outer nuclear layer, inner nuclear layer, and gangli...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1985-03-01 00:00:00