Abstract：
PURPOSE:To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa. METHODS:Patients from two families, one with a mutation in codon 167 (Gly167Asp) leading to macular degeneration and another with a mutation in codon 210 (Pro210Ser) leading to retinitis pigmentosa, were studied with clinical examinations and measurements of rod and cone sensitivities and dark adaptation, electroretinography, and rhodopsin levels. RESULTS:Mildly affected patients had sizable rod and cone electroretinograms, reduced levels of rhodopsin, and minor losses of sensitivity. In both mutations, there were delays of rod and cone dark adaptation after bleaching, and the adaptational abnormalities were observed in peripheral and central retinal locations. Analysis of the kinetics of rod adaptation indicates that the underlying abnormalities are similar in both mutations and that the effects of the mutations are similar to those caused by mild systemic vitamin A deficiency. CONCLUSIONS:Patients with the Gly167Asp and Pro210Ser mutations in the peripherin/RDS gene have widely different clinical phenotypes but show the same abnormality, slowed dark adaptation, of rod and cone photoreceptor function. The similarities of the characteristics of the adaptational abnormalities in the two genotypes suggest that, in addition to the structural roles normally assumed for it, peripherin influences or participates in the function of the visual cycle.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Kemp CM,Jacobson SG,Cideciyan AV,Kimura AE,Sheffield VC,Stone EMsubject
Has Abstractpub_date
1994-07-01 00:00:00pages
3154-62issue
8eissn
0146-0404issn
1552-5783journal_volume
35pub_type
杂志文章abstract：:Topical application of Prostaglandin F2 alpha (PGF2 alpha) to the eye reduces intraocular pressure (IOP) in all mammalian species studied thus far, including humans. The L-isopropylester derivative is currently the one most commonly used in experimental and clinical studies. Dose-response relationships were determined...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-03-01 00:00:00
abstract：Purpose:The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. Methods:We recruited RP families and sporadic RP patients, and performed whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we investigated the...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-22952
更新日期：2017-12-01 00:00:00
abstract：PURPOSE:To assess the reproducibility of the ocular response analyzer (ORA) in nonoperated eyes and the impact of corneal biomechanical properties on intraocular pressure (IOP) measurements in normal and glaucomatous eyes. METHODS:In the reliability study, two independent examiners obtained repeated ORA measurements i...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-0280
更新日期：2008-03-01 00:00:00
abstract：:Retinal dysplasia is a failure in normal retinal development. The morphologic sequence of the dysplastic processes was examined in fetuses and neonates from dogs affected with an inherited form of retinal dysplasia. The dysplastic change has its onset at 45-50 days' gestation and is most prominent in the dorsal peripa...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：PURPOSE:To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-and-fleck retinopathy, lozenge, and macular hole. METHODS:The type IV collagen chains present in the normal retina were determined immunohistoche...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章,多中心研究
doi：10.1167/iovs.08-3323
更新日期：2010-03-01 00:00:00
abstract：PURPOSE:To evaluate the occurrence and time course of hem- and lymphangiogenesis after normal-risk corneal transplantation in the mouse model and to test whether pharmacologic strategies inhibiting both processes improve long-term graft survival. METHODS:Normal-risk allogeneic (C57BL/6 to BALB/c) and syngeneic (BALB/c...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.03-1380
更新日期：2004-08-01 00:00:00
abstract：Purpose:The purpose of this study was to study the effect of minocycline and several neurotrophic factors, alone or in combination, on photoreceptor survival and macro/microglial reactivity in two rat models of retinal degeneration. Methods:P23H-1 (rhodopsin mutation), Royal College of Surgeon (RCS, pigment epithelium...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.18-24621
更新日期：2018-09-04 00:00:00
abstract：PURPOSE:The fibrotic lens disorder posterior capsule opacification (PCO) develops in millions of patients following cataract surgery. PCO characteristics are extensive extracellular matrix (ECM) production and contraction of the posterior lens capsule, resulting in light-scattering ECM modification (wrinkling). The pro...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.12-9457
更新日期：2012-06-26 00:00:00
abstract：PURPOSE:To investigate the role of angiopoietin-1 (Ang1) in choroidal neovascularization (CNV) and vascular leakage. METHODS:We generated laser-induced CNV in mice and measured the size of CNV and vascular leakage after intravitreal administration of Ang1. The expressions and distributions of endothelial junctional pr...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-13897
更新日期：2014-04-07 00:00:00
abstract：Purpose:Rapid identification of pathogens causing endophthalmitis may improve treatment outcomes through early administration of species-specific medication. The current study reports a new molecular application of peptide nucleic acid-fluorescence in situ hybridization (PNA-FISH) with Staphylococcus-specific molecular...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-21535
更新日期：2017-08-01 00:00:00
abstract：PURPOSE:To analyze the mechanism of action of adrenomedullin (AM), a peptide recently isolated from human pheochromocytoma, in isolated canine central retinal arteries and to compare the action of calcitonin gene-related peptide (CCRP). METHODS:Changes in isometric tension were recorded in helical strips of the arteri...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：PURPOSE:Dietary supplementation with vitamin A is sometimes prescribed as a treatment for retinitis pigmentosa, a group of inherited retinal degenerations that cause progressive blindness. Loss-of-function mutations in the ABCA4 gene are responsible for a subset of recessive retinitis pigmentosa. Other mutant alleles o...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.07-1470
更新日期：2008-09-01 00:00:00
abstract：PURPOSE:To study the effects of nipradilol, a nonselective beta-blocker with alpha 1-blocking activity and nitroglycerin-like activity, on aqueous humor dynamics and optic nerve head (ONH) circulation in albino rabbits. METHODS:Experiments were carried out during the dark phase, in conscious rabbits conditioned to a s...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1998-04-01 00:00:00
abstract：PURPOSE:To investigate macular changes in acute retinopathy of prematurity (ROP). METHODS:Fifty-four premature infants with ROP and 20 controls underwent routine ROP screening with indirect ophthalmoscopy and imaging. A tabletop spectral domain optical coherence tomography (SD-OCT) scanner (Spectralis; Heidelberg Engi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-7155
更新日期：2011-07-15 00:00:00
abstract：PURPOSE:To identify the tyrosine-phosphorylated protein(s) in bovine rod outer segments (ROS) that are associated with phosphatidylinositol 3-kinase (PI3K). METHODS:Glutathione-S-transferase (GST) fusion proteins containing two SH2 domains of the p85 regulatory subunit of PI3K-GST-p85 (N-SH2), GST-p85 (C-SH2), and res...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2001-12-01 00:00:00
abstract：:Endothelial cells from both human retinal microvessels (HME) and fetal bovine aortic endothelium (FBAE) were grown in aggregate cultures alone, or with either retinal pigment epithelium (RPE) cells or fibroblasts. The levels of plasminogen activator (PA) and plasminogen activator inhibitor (PAI) in the conditioned med...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1990-06-01 00:00:00
abstract：:Normal adult rabbit corneas were digested with 5% pepsin and their collagens extracted with acetic acid. Collagen extracts were fractionated by differential salt precipitation. The 2.5 M NaCl fraction was then redissolved with tris buffer and precipitated with sodium acetate. The precipitate contained a high-molecular...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1988-05-01 00:00:00
abstract：PURPOSE:To design a glucocorticoid-inducible virus vector overexpressing recombinant matrix metalloproteinase 1 (MMP1) and counteract extracellular matrix deposition in the trabecular meshwork only when steroid is present. METHODS:Endogenous MMP1 expression was measured in primary human trabecular meshwork cells (HTM)...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-4918
更新日期：2010-06-01 00:00:00
abstract：PURPOSE:Recent studies demonstrated that short peptides derived from activity-dependent neurotrophic factor (ADNF) and activity-dependent neuroprotective protein (ADNP) are neuroprotective at femtomolar concentrations. We evaluated these findings in cultures of purified rat retinal ganglion cells (RGCs) using two such ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.04-0766
更新日期：2005-03-01 00:00:00
abstract：:Gross correlation coefficient between light-scattering intensity and the optical parameters obtained for 48 sections of eight lenses with nuclear cataracts were evaluated. On the basis of these and other data in the literature, the structural elements, within the lens fiber are identified. These give rise to the optic...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
abstract：PURPOSE:Sensory imbalances in humans with amblyopia have been well documented using luminance-modulated (first-order) stimuli. However, little is known regarding whether there is a deficient binocular combination in amblyopes for stimuli defined by modulations in contrast (second-order stimuli). To address this, we ask...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-18253
更新日期：2016-04-01 00:00:00
abstract：:In recent years, there has been great interest in recording the pattern electroretinogram (PERG) in glaucomatous and diabetic populations. The Dawson, Trick, and Litzkow thread electrode (DTLTE) and the gold foil electrode (GFE), commonly used for recording PERGs, were compared for variations in amplitude of response,...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1992-02-01 00:00:00
abstract：PURPOSE:We characterized fluorescent bone marrow cells (YFP(+) BMCs) in the thy1-YFP mouse and determine if they promote trigeminal ganglion (TG) cell neurite growth. METHODS:Excimer laser annular keratectomy was performed in thy1-YFP mice, and corneas were imaged. BMCs were harvested from femur and tibia, and the exp...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-12237
更新日期：2013-09-03 00:00:00
abstract：PURPOSE:Aquaporin (AQP) is a hexahelical integral membrane protein that functions as a constitutive channel for water and regulated channel for cations in fluid transporting tissues, including many in the eye. Although AQP1 has been cloned from a cDNA library prepared from cultures of retinal pigment epithelial (RPE) c...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.03-0001
更新日期：2003-06-01 00:00:00
abstract：:PURPOSE. To investigate the normative data of corneal and anterior segment biometric parameters and their associations in Chinese adults, for use in preoperative assessment for corneal and anterior segment surgery. METHODS. This cross-sectional, population-based study included 750 subjects aged > or =50 years. The sub...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.09-4307
更新日期：2010-07-01 00:00:00
abstract：:The retinal blood vessels serve for nutrition of the retinal ganglion cells and their axons. This study was undertaken to evaluate the vessel diameter in normal and glaucoma eyes. The calibers of the superior temporal and inferior temporal retinal artery and vein were measured at the optic disc border and at a distanc...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-07-01 00:00:00
abstract：:Selenium toxicity was investigated in cultured rabbit lenses to provide further information about the role of Ca++ in Se cataract. At a dose of 0.1 mM for 20 hr, Se induces a 10% change in Na levels within 6 hr, a 30% increase after 20 hr, and a three-fold increase within 48 hr of subsequent culture after removal of S...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：PURPOSE:To determine whether the Ganzfeld ERG photopic negative response (PhNR), an assay of inner retinal activity, is altered in childhood optic glioma (OPG). METHODS:Seventeen pediatric patients with a diagnosis of OPG, established on neuro-ophthalmologic and brain/orbit magnetic resonance imaging (MRI) criteria, w...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.14-16235
更新日期：2015-04-01 00:00:00
abstract：Purpose:To evaluate the relationship between refractive error, circadian phase, and melatonin with consideration of prior light exposure, physical activity, and sleep. Methods:Healthy young myopic (spherical equivalent refraction [SER] ≤-0.50DS) and emmetropic adults underwent noncycloplegic autorefraction and axial l...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.61.8.45
更新日期：2020-07-01 00:00:00
abstract：PURPOSE:To determine the effect of continuous light exposure on ocular growth and emmetropization in infant monkeys. METHODS:Nine infant rhesus monkeys were reared with the normal vivarium lights on continuously. The 24-hour light cycle was initiated between 1 and 4 weeks of age and maintained for 6 months. The ocular...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2001-05-01 00:00:00
