Abstract:
PURPOSE:To correlate retinal histopathology with functional changes caused by the rhodopsin Q64ter mutation. METHODS:A 50-year-old female heterozygote was evaluated clinically and with psychophysical and electroretinographic measurements of rod and cone function. The retinas obtained after death were examined microscopically, including immunolabeling with antibodies against the C- and N-termini of rhodopsin. RESULTS:On clinical examination 4 months before death, patient's acuity was 20/60, and she had midperipheral scotomas with retained function centrally and in the far periphery. The rod electroretinogram (ERG) was undetectable, and the cone ERG was reduced in amplitude with abnormal receptoral and postreceptoral responses. A previous study of the phenotype of mildly affected family members of the donor suggested that the rod outer segments (ROS) were shortened and that only wild-type rhodopsin was functional. The retinas contained only scattered cones in the midperiphery; the maculas and far peripheral regions contained reduced numbers of rods and cones with short to absent outer segments. The ROS appeared to contain wild-type, but not mutant, rhodopsin, and many peripheral rods had sprouted long rhodopsin-positive neurites that projected into the inner retina. Many cone synapses were abnormal, and the axons of some peripheral cones reached the inner plexiform layer. CONCLUSIONS:Microscopic changes in the donor retinas correlated well with the abnormalities in visual function in the patient donor and other family members. Postreceptoral ERG defects may relate to the abnormal photoreceptor processes found in the inner retina.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Milam AH,Li ZY,Cideciyan AV,Jacobson SGsubject
Has Abstractpub_date
1996-04-01 00:00:00pages
753-65issue
5eissn
0146-0404issn
1552-5783journal_volume
37pub_type
杂志文章abstract:PURPOSE:There is a correlation between cell volume changes and changes in the rate of aqueous humor outflow; agents that decrease trabecular meshwork (TM) cell volume increase the rate of aqueous humor outflow. This study investigated the effects of the nitric oxide (NO)-independent activators of soluble guanylate cycl...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-3127
更新日期:2009-07-01 00:00:00
abstract:Purpose:The purpose of this study was to evaluate macular preganglionic function and to verify its relationship with retinal and choroidal morphology in patients with intermediate age-related macular degeneration (iAMD) patients. Methods:All included patients performed multifocal electroretinogram (mfERG) for investig...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.5.11
更新日期:2020-05-11 00:00:00
abstract::The elastic fiber consists of several components: a central core of alpha-elastin and a microfibrillar sheath containing three components: fibrillin, microfibril-associated glycoprotein, and a 35-kD protein with amine oxidase activity. Elastin is a major component of the elastic fibers of the extracellular matrix (ECM...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-09-01 00:00:00
abstract:PURPOSE:To compare intraocular pressure (IOP) measurements obtained using the Topocon noncontact tonometer (NCT), the Goldmann applanation tonometer (GAT), and the Corvis ST (CST), a newly developed tonometer with features of visualization and measurement of the corneal deformation response to an air impulse. A seconda...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-10984
更新日期:2013-01-23 00:00:00
abstract:PURPOSE:To compare the developmental sequences of two basic measures of pattern vision, Vernier acuity and grating acuity, using steady state visual-evoked potentials (VEPs) and an analysis designed to isolate pattern-specific responses from those due to motion in the Vernier stimulus. METHODS:The authors recorded VEP...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract:Purpose:Diabetic retinopathy (DR) is a leading cause of vision impairment and blindness worldwide in the working-age population, and the incidence is rising. Until now it has been difficult to define initiating events and disease progression at the molecular level, as available diabetic rodent models do not present the...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.2.43
更新日期:2020-02-07 00:00:00
abstract:PURPOSE:To report the impact of intravitreous bevacizumab therapy on contrast sensitivity in patients with neovascular age-related macular degeneration (nAMD). METHODS:This was a prospective, multicenter, double-masked, randomized, controlled trial of 131 patients with nAMD. The patients with nAMD had received intravi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1167/iovs.10-6208
更新日期:2011-05-11 00:00:00
abstract::In an anisotonic medium the tendency of the lens to swell or shrink in response to the osmotic gradient is countered by a change in the content of lens solute, so that the change in the volume of lens water is minimal. This phenomenon is known as volume regulation. The rapid phase of volume regulation occurs in less t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
abstract:PURPOSE:We tested variants in genes related to lutein and zeaxanthin status for association with age-related macular degeneration (AMD) in the Carotenoids in Age-Related Eye Disease Study (CAREDS). METHODS:Of 2005 CAREDS participants, 1663 were graded for AMD from fundus photography and genotyped for 424 single nucleo...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究
doi:10.1167/iovs.13-13216
更新日期:2014-01-29 00:00:00
abstract:PURPOSE:Neural ectopic rewiring in retinal degeneration such as retinitis pigmentosa (RP) may form functional synapses between cones and rod bipolar cells that cause atypical signal processing. In this study, the multifocal electroretinograms (mfERGs) of a large animal model of RP, the rhodopsin P347L transgenic (Tg) p...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1159
更新日期:2008-05-01 00:00:00
abstract::One eye of each of eight subjects was exposed to gases containing oxygen concentrations of 1.0%, 2.5%, 4.9%, 7.5%, 10.1%, and 21.4% (oxygen partial pressures ranging from 8 to 158 mmHg) for 8 hr. The precorneal oxygen concentration required to avoid corneal edema for the group as a whole was 10.1% (an oxygen tension o...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1984-04-01 00:00:00
abstract:PURPOSE:The selective degeneration of pericytes and the proliferation of endothelial cells (ECs) appear to be associated with microaneurysm formation, an initial deficit in the early stage of diabetic retinopathy. The preventive effect of aldose reductase (AR) inhibitor (ARI) for high glucose-induced pericyte loss and ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1643
更新日期:2008-07-01 00:00:00
abstract:PURPOSE:Mutations in the genes that control cell proliferation in cutaneous melanoma are generally uncommon in uveal melanoma. Despite the absence of known activating mutations, the RAF-MEK-ERK, or mitogen-activated protein kinase (MAPK), pathway is usually activated in uveal melanoma. An assay with increased potential...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0722
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:Lens epithelial cells transdifferentiate to myofibroblasts during the formation of anterior subcapsular cataracts and secondary cataracts. One of the defining characteristics of myofibroblasts is the expression of alpha-smooth muscle actin (alpha-SMA). This study investigated some of the factors that influence ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:PURPOSE:The primary purpose of this study was to characterize photoreceptor apoptosis in the rd mouse. Given that apoptosis is the final common pathway in many cases of retinal degeneration, the ability to retard or even arrest this process may ameliorate retinal disorders such as retinitis pigmentosa (RP). The absence...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0248
更新日期:2005-10-01 00:00:00
abstract:PURPOSE:Retinal ischemia/reperfusion (IR) is common in eye disorders. Pattern-recognition receptors (PRRs) are reported to initiate sterile inflammatory response. The role of PRRs in retinal IR injury is currently unknown. Thus, we investigated the expression and function of membrane and cytoplasmic PRRs during retinal...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-14380
更新日期:2014-08-05 00:00:00
abstract:PURPOSE:To assess the role of vitamin E (VE) in age-related changes in the retinal tissues by using a mouse model of severe VE deficiency. METHODS:Pups of alpha-tocopherol transfer protein null (a-TTP(-)(/)(-)) mice were fed a VE-deficient diet for 4 or 18 months (VE (-) group). Wild-type C57BL/6 mice were fed a 0.002...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0872
更新日期:2007-01-01 00:00:00
abstract:PURPOSE:To provide a clinical and genetic description of a patient cohort with Stargardt disease (STGD1) with identifiable foveal sparing. METHODS:Patients with retinal atrophy (defined as an absence of autofluorescence) that surrounded the fovea by at least 180° and did not include the fovea were defined as having fo...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-13825
更新日期:2014-10-16 00:00:00
abstract:PURPOSE:To evaluate immunohistochemical staining of the endothelia of corneas from patients with clinical diagnoses of iridocorneal endothelial (ICE) syndrome. METHODS:Corneas diagnosed with ICE syndrome and removed during corneal transplantation were freshly frozen, sectioned, and stained with monoclonal antibodies t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1995-04-01 00:00:00
abstract:PURPOSE:To describe the prevalence of AMD in an elderly urban Chinese population in China. METHODS:A population-based, cross-sectional study was conducted using a cluster random sample of residents aged 50 years or older living in the Jiangning Road Subdistrict, Jing'an District, Shanghai, China. All participants unde...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-14899
更新日期:2014-09-04 00:00:00
abstract:PURPOSE:To investigate the expression pattern of claudins in human corneal endothelium, and to evaluate the functional role of the claudin-10b subtype. METHODS:Corneal endothelium with Descemet's membrane and the corneal epithelium were stripped from donor human corneal stroma. Reverse transcription-polymerase chain r...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12022
更新日期:2013-11-08 00:00:00
abstract:PURPOSE:This study compared the performance of a video-based infrared three-dimensional eye tracker device (Chronos) with the scleral search coil method. METHODS:Three-dimensional eye movements were measured simultaneously with both systems during fixation, saccades, optokinetic stimulation, and vestibular stimulation...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.05-0234
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:The existence of an organic cation transport process in rabbit cornea and conjunctiva that mediates absorption of carnitine has previously been suggested. This study was conducted to determine the expression and localization of the carnitine/organic cation transporter (OCTN1 and OCTN2) in corneal or conjunctiva...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1528
更新日期:2008-11-01 00:00:00
abstract:PURPOSE:In addition to photoreceptor degeneration, excessive light causes degenerative alterations in the inner retina and ganglion cell death. A disturbance in osmohomeostasis may be one causative factor for the alterations in the inner retina. Because Müller cells mediate inner retinal osmohomeostasis (mainly through...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-1723
更新日期:2008-08-01 00:00:00
abstract:PURPOSE:We investigated the therapeutic effect of liposomal doxorubicin (Lipo-dox) on experimental proliferative vitreoretinopathy (PVR). METHODS:The toxicity of Lipo-dox was determined in vitro in cultured rabbit retinal pigment epithelium (RPE) cells by tetrazolium-based (MTT) assay for cell viability performed 48 a...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-7972
更新日期:2012-06-29 00:00:00
abstract:PURPOSE:We investigated the hypothesis that cyclic adenosine monophosphate (cAMP) modifies the basolateral membrane chloride conductance of chick retinal pigment epithelium (RPE). METHODS:Placing freshly dissected chick retina-RPE-choroid tissues in a perfusion chamber that allows separate perfusion of its retinal and...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-02-01 00:00:00
abstract::We evaluated the dose relationship between the antiproliferative and toxic effects of 5-fluorouracil (5-FU) on the ocular surface epithelium following experimental corneal epithelial wounding in rabbits. Central corneal epithelial defects 8 mm in diameter were made using n-heptanol. 5-FU (0.05 mg, 0.5 mg, or 5.0 mg pe...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-10-01 00:00:00
abstract::Tendon and cornea of 17-day-old chick embryos primarily synthesize type I collagen as the major collagenous component nd type V collagen as a minor collagenous component. Matrix-free cells isolated from cornea and tendon synthesize and secrete mainly type I procollagen. A short lag period for the secretion of collagen...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1982-12-01 00:00:00
abstract:PURPOSE:The exact pathophysiological processes underlying keratoconus remain an enigma. In this study, laser scanning in vivo confocal microscopy (IVCM) was used to define further the microstructural abnormalities in the keratoconic cornea and to establish the relationship with disease severity. METHODS:This was a pro...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0968
更新日期:2008-07-01 00:00:00
abstract:PURPOSE:Subretinal fibrosis causes damage to visual acuity, especially if the lesion is in the macula, as is frequently observed in advanced age-related macular degeneration. Exudate leukocytes form abnormal vessels that initiate regional inflammation accompanied with local glial proliferation and matrix production. Th...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5189
更新日期:2011-08-01 00:00:00