Abstract:
PURPOSE:To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 mutations were identified. METHODS:To amplify and sequence ORF15 in its entirety, a cloning strategy was developed. Families with mutations in ORF15 underwent electrophysiological testing, color vision assessment, color fundus photography, and fundus autofluorescence (AF) imaging. RESULTS:Novel protein truncation mutations were identified in two families. In family A, a 2-bp mutation was identified in ORF15+A1094C G1095T, predicted to result in a truncated protein (E364D/E365X). In family B, a G-to-T transversion (ORF15+1176G>T) resulted in a nonsense mutation (G392X). Characteristics of phenotype in both families included progressive deterioration of central vision and subsequently night vision, mild photophobia, and moderate to high myopia. Ophthalmoscopic abnormalities were generally confined to the macula. A parafoveal ring of increased AF was observed, and electrophysiological evidence of a greater generalized abnormality in cone than rod responses were consistent with a cone-rod dystrophy phenotype. CONCLUSIONS:The cloning strategy for ORF15 facilitated comprehensive sequence analysis in patients. Two families were identified with nonsense mutations, and clinical evaluation revealed them both to have a similar phenotype. The presence of a parafoveal ring of increased AF was an early indicator of affected status in these families. No disease-causing mutations in ORF15 were detected in four other families, suggesting that ORF15 mutations may not be the most common cause of XLCORD.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Ebenezer ND,Michaelides M,Jenkins SA,Audo I,Webster AR,Cheetham ME,Stockman A,Maher ER,Ainsworth JR,Yates JR,Bradshaw K,Holder GE,Moore AT,Hardcastle AJdoi
10.1167/iovs.04-1482keywords:
subject
Has Abstractpub_date
2005-06-01 00:00:00pages
1891-8issue
6eissn
0146-0404issn
1552-5783pii
46/6/1891journal_volume
46pub_type
杂志文章abstract:PURPOSE:To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes. METHODS:DNA samples were collected from 19 consanguineous Tunisian families with BBS. Genome-wide scans were performed with microsatellite markers in 12 families, and two...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-1334
更新日期:2006-08-01 00:00:00
abstract::To investigate the accumulation of tear proteins on disposable extended-wear contact lenses (42% Etafilcon A and 58% hydration), a technique involving sodium dodecyl sulfate-polyacrylamide minigel electrophoresis combined with a sensitive silver-staining method was used. Besides the binding of large amounts of tear ly...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-11-01 00:00:00
abstract::Although the lens has been shown to have the capacity to respond to insulin in vitro, little is known concerning the biochemical relationships of insulin to the lens in vivo. Therefore we have measured insulin in the aqueous humor of rabbits by a sensitive radioimmunoassay after paracentesis and feeding. The insulin c...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1980-12-01 00:00:00
abstract::Autoregulation of the retinal circulation in response to an acute elevation of intraocular pressure was investigated in 17 subjects (23 eyes) with no ocular abnormalities, by means of the blue field entoptic phenomenon. This phenomenon allows a person to observe leukocytes flowing in his own macular capillaries. Subje...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract:PURPOSE:To evaluate the structure-function relationship between ganglion cell-inner plexiform layer (GCIPL) thickness at the macula and 10-2 standard automated perimetry (SAP) in glaucoma and to evaluate the relationship using a recently proposed linear model. METHODS:In a cross-sectional analysis, structure-function ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-16943
更新日期:2015-06-01 00:00:00
abstract:PURPOSE:Tendency-oriented perimetry (TOP) is a new strategy designed to estimate the sensitivity of the visual field quickly, by using linear interpolation between test locations. This study determined the spatial resolution characteristics of TOP. METHODS:A Monte-Carlo technique was used to simulate visual fields, an...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-0828
更新日期:2003-05-01 00:00:00
abstract:PURPOSE:The increase in intraocular pressure in primary open-angle glaucoma (POAG) may involve transforming growth factor (TGF)-beta2 signaling, as TGF-beta2 is found in higher amounts than normal in the aqueous humor of patients with POAG. In vitro, TGF-beta2 causes an accumulation of extracellular matrix (ECM) in the...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0226
更新日期:2007-02-01 00:00:00
abstract:PURPOSE:To determine whether there is rod system dysfunction in the central retina of patients with age-related macular degeneration (AMD). METHODS:Dark-adapted sensitivity (500-nm stimulus) and light-adapted sensitivity (600 nm) were measured psychophysically at 52 loci in the central 38 degrees (diameter) of retina ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:Liquid perfluorocarbons are used as temporary vitreous substitutes in the surgical management of complicated retinal detachment. The purpose of this study was to determine if physiologic benefits could also be derived from the high oxygen solubility of perfluorochemicals relative to vitreous, especially during ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract:PURPOSE:To explore the role in the eye of tenomodulin (TeM), a chondromodulin (ChM)-I-related glycoprotein, the expression, localization, and antiangiogenic potential of TeM were investigated. METHODS:Gene expression and protein localization of TeM in mouse eyes were examined by Northern blot analysis, in situ hybridi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-0664
更新日期:2003-05-01 00:00:00
abstract:Purpose:Patients with diabetes have a propensity to develop dry eye symptoms (DES), with reduced tear secretion and corneal sensitivity. The underlying pathologic basis of DES was explored in patients with Type 1 diabetes. Methods:Forty-two patients with Type 1 diabetes mellitus (T1DM) (age: 49.21 ± 2.53 years, durati...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.18-25321
更新日期:2018-11-01 00:00:00
abstract:PURPOSE:To determine the response of retinal vessels to differing durations of flicker light (FL) stimulation. METHODS:We recorded retinal arterial and venous vessel dilation to 12.5 Hz FL provocation of varying duration (5, 7, 10, and 20 seconds) in 12 healthy young individuals (age range, 26-45 years). All participa...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-17089
更新日期:2015-11-01 00:00:00
abstract:PURPOSE:To determine the toxicity of various doses of intravitreal amphotericin B deoxycholate, amphotericin B lipid complex (ABLC), and liposomal amphotericin B (L-AmB). METHODS:Fifty-two rabbits were divided into two treatment groups (groups A and B). Thirteen treatments were administered intravitreally to the 104 r...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-1020
更新日期:2003-05-01 00:00:00
abstract:PURPOSE:Although the presence of IgG autoantibodies in the vitreous of spontaneous cases of equine recurrent uveitis (ERU) has been demonstrated, the potential role of IgM reactivities during ERU pathogenesis remains unexplored. The purpose of this study was to examine the presence of IgM autoantibodies in vitreous spe...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8734
更新日期:2012-01-25 00:00:00
abstract:PURPOSE:The influence of genetic and prenatal environmental factors on characteristics of saccadic performance were evaluated in young monozygotic (MZ) twins (8-19 years old) of known chorion type. METHODS:Saccadic eye movements were recorded using an infrared system. Saccadic latency, accuracy, and parameters of ampl...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:PURPOSE:To identify stem cells in the chamber angle of the monkey eye by detection of 5-bromo-2'-deoxyuridine (BrdU) long-term retention. METHODS:Four cynomolgus monkeys were treated with BrdU via subcutaneous pumps for 4 weeks. The eyes of two animals were processed immediately thereafter (group 1) while in the other...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-14872
更新日期:2014-10-16 00:00:00
abstract:PURPOSE:Corneal neovascularization remains an unsolved therapeutic problem. Platelet-derived growth factor (PDGF) is directly linked to vessel formation and stabilization. This study was undertaken to elucidate the mechanisms by which PDGF exerts its effects on corneal angiogenesis. METHODS:Corneal neovascularization ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-1071
更新日期:2006-05-01 00:00:00
abstract:PURPOSE:The purpose of the present study was to examine the roles of signaling pathways potentially activated by TGFbeta (i.e., Smad and p38 mitogen-activated kinase [MAPK]) in regulation of cell migration and proliferation of healing mouse corneal epithelium. METHODS:Activation of Smads or p38MAPK was evaluated by im...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.03-0700
更新日期:2004-01-01 00:00:00
abstract:PURPOSE:To determine directional changes in peripheral corneal thickness and corneal astigmatism over a range of severity of Fuchs' endothelial corneal dystrophy (FECD). METHODS:Eyes with FECD were categorized as mild, moderate, or advanced according to the area and confluence of guttae and the presence of clinical ed...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.15-17311
更新日期:2015-09-01 00:00:00
abstract:PURPOSE:To investigate the long-term effects of transient ligature of the ophthalmic vessels (LOV) on the inner and outer retina as well as on retinotectal projection, and whether brimonidine (BMD) has protective effects. METHODS:In adult rats, the left eye was subjected to 90 minutes of LOV. One hour before ischemia,...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0392
更新日期:2005-10-01 00:00:00
abstract:PURPOSE:To investigate mechanical properties of the human posterior lens capsule. METHODS:Twenty-five human donor eyes were obtained from an eye bank. The age of the donors ranged from 1 to 94 years. Test specimens were prepared as tissue rings from posterior lens capsules by means of excimer laser. Capsular thickness...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.02-0096
更新日期:2003-02-01 00:00:00
abstract::The short-term fluctuation in regular grid threshold static fields is commonly determined from repeated observations of a number of threshold points. In this study we estimated the short-term fluctuation from a single determination of the field. Sixty-two eyes of 62 patients were tested, using three consecutive repeti...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1990-04-01 00:00:00
abstract:Purpose:Adult central nervous system (CNS) neurons are unable to regenerate their axons after injury. Krüppel-like transcription factor (KLF) family members regulate intrinsic axon growth ability in vitro and in vivo, but mechanisms downstream of these transcription factors are not known. Methods:Purified retinal gang...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.17-23319
更新日期:2018-06-01 00:00:00
abstract:PURPOSE:We studied morphologic changes of the retinal vasculature in eyes with central retinal vein occlusion (CRVO) through the use of optical coherence tomography (OCT). METHODS:Major retinal vessels in 35 eyes from 35 consecutive patients with acute CRVO were examined prospectively and longitudinally with sequentia...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-13201
更新日期:2014-01-07 00:00:00
abstract:PURPOSE:Recently, it has been found that form deprivation myopia can be induced in fish (tilapia). This study examined the sensitivity of the tilapia eye to positive and negative lenses. It further investigated the sensitivity of the fish eye to form deprivation by examining the effect of fish weight. METHODS:Twenty-f...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-1273
更新日期:2007-10-01 00:00:00
abstract::We have investigated the involvement of cell-mediated immune responses to Herpes simplex virus type 1 (HSV-1) in the pathogenesis of HSV-1 induced corneal stromal lesions in mice. Topical corneal (TC) HSV-1 infection induced a vigorous delayed hypersensitivity response, as well as lymphoproliferative and cytotoxic res...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-12-01 00:00:00
abstract:PURPOSE:To investigate the protective effect of pioglitazone on the rat retina after ischemia/reperfusion (I/R) injury and to explore its possible mechanisms. METHODS:Retinal ischemia was induced by increasing the intraocular pressure to 110 mm Hg for 60 minutes, and pioglitazone was delivered 3 hours before the I/R. ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-11614
更新日期:2013-06-06 00:00:00
abstract:PURPOSE:Scleral proteoglycans were characterized from human donor eyes aged 2 months to 94 years to identify age-related changes in the synthesis and/or accumulation of these extracellular matrix components. METHODS:Newly synthesized proteoglycans (previously radiolabeled with 35SO4) and total accumulated scleral prot...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract:PURPOSE:Ibuprofen and indomethacin are nonselective prostaglandin synthetase inhibitors that have been shown to improve oxygen-induced retinopathy in mice. Vascular endothelial growth factor (VEGF), insulin-like growth factor (IGF)-I, and growth hormone (GH) are potent growth factors involved in retinal development. Th...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0057
更新日期:2006-07-01 00:00:00
abstract:PURPOSE:The potential of stem cells (SCs) as a source for cell-based therapy on a wide range of degenerative diseases and damaged tissues such as retinal degeneration has been recognized. Generation of a high number of retinal stem cells (RSCs) in vitro would thus be beneficial for transplantation in the retina. Howeve...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-3091
更新日期:2009-12-01 00:00:00