Abstract：
PURPOSE:To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse. METHODS:Twenty-two patients with CRB1 mutations were studied. Function was assessed with perimetry and electroretinography (ERG) and retinal structure with optical coherence tomography (OCT). Cortical structure and function were quantified with magnetic resonance imaging (MRI). Rd8 mice underwent ERG, OCT, and retinal histopathology. RESULTS:Visual acuities ranged from 20/25 to light perception. Rod ERGs were not detectable; small cone signals were recordable. By perimetry, small central visual islands were separated by midperipheral scotomas from far temporal peripheral islands. The central islands were cone mediated, whereas the peripheral islands retained some rod function. With OCT, there were small foveal islands of thinned outer nuclear layer (ONL) surrounded by thick delaminated retina with intraretinal hyperreflective lesions. MRI showed structurally normal optic nerves and only subtle changes to occipital lobe white and gray matter. Functional MRI indicated that whole-brain responses from patients were of reduced amplitude and spatial extent compared with those of normal controls. Rd8 mice had essentially normal ERGs; OCT and histopathology showed patchy retinal disorganization with pseudorosettes more pronounced in ventral than in dorsal retina. Photoreceptor degeneration was associated with dysplastic regions. CONCLUSIONS:CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages. Rd8 mice also have a disorganized retina, but there is sufficient photoreceptor integrity to produce largely normal retinal function. Differences between human and mouse diseases will complicate proof-of-concept studies intended to advance treatment initiatives.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Aleman TS,Cideciyan AV,Aguirre GK,Huang WC,Mullins CL,Roman AJ,Sumaroka A,Olivares MB,Tsai FF,Schwartz SB,Vandenberghe LH,Limberis MP,Stone EM,Bell P,Wilson JM,Jacobson SGdoi
10.1167/iovs.11-7701subject
Has Abstractpub_date
2011-08-29 00:00:00pages
6898-910issue
9eissn
0146-0404issn
1552-5783pii
iovs.11-7701journal_volume
52pub_type
杂志文章abstract：PURPOSE:To compare self-assessed driving habits and skills of licensed drivers with central visual loss who use bioptic telescopes to those of age-matched normally sighted drivers, and to examine the association between bioptic drivers' impressions of the quality of their driving and ratings by a "backseat" evaluator. ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-13520
更新日期：2014-01-15 00:00:00
abstract：PURPOSE:To determine the effects of enzymes on mammalian vitreous gel and to thus infer the structural roles of hyaluronan and chondroitin sulfate in the gel. METHODS:The wet weights of bovine vitreous gels were compared before and after incubation with Streptomyces hyaluronan lyase, chondroitin ABC lyase, testicular ...
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:Despite the potential for adaptive optics scanning light ophthalmoscopy (AOSLO) to quantify retinal disease progression at the cellular level, there remain few longitudinal studies investigating changes in cone density as a measure of disease progression. Here, we undertook a prospective, longitudinal study to ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.18-25904
更新日期：2019-04-01 00:00:00
abstract：:Ocular sympathetic nerves were stimulated chronically in awake rabbits using electrodes unilaterally implanted on the cervical sympathetic trunk. IOP was measured by pneumatonometry and aqueous inflow was measured by fluorophotometry. In each animal, continuous trains of 1 msec pulses were delivered by means of a port...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1987-10-01 00:00:00
abstract：Purpose:To investigate the action of atropine on global flash multifocal electroretinogram (gmfERG) responses to retinal defocus. Method:gmfERG recordings were made monocularly in 19 healthy adults under three lens-imposed defocus conditions (2 diopters myopic, 2 diopters hyperopic, and no defocus) before and 24 hours...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.18-24600
更新日期：2019-01-02 00:00:00
abstract：:Recently protease inhibitors were used to treat corneal ulceration and persistent epithelial defect. An organ culture system was used in this study to examine the effect of four protease inhibitors on rat corneal epithelial migration and on incorporation of 3H-leucine into trichloroacetic acid-precipitable material as...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-06-01 00:00:00
abstract：:Topical administration of 1% vanadate in a formulation designed to enhance penetration lowered intraocular pressure in monkeys' eyes. The decrease in intraocular pressure was associated with significant decreases in aqueous humor flow. Tonographic outflow facility was unaltered by topical vanadate. ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：PURPOSE:To mathematically analyze and to clinically describe specific anatomic foveal configurations predisposing to the formation of macular holes in comparison with normal foveal anatomy. METHODS:In a retrospective observational case-control series, a total of 3882 optical coherence tomography (OCT) foveal thickness...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-8191
更新日期：2011-10-21 00:00:00
abstract：Purpose:To validate the prediction accuracy of variational Bayes linear regression (VBLR) with two datasets external to the training dataset. Method:The training dataset consisted of 7268 eyes of 4278 subjects from the University of Tokyo Hospital. The Japanese Archive of Multicentral Databases in Glaucoma (JAMDIG) da...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-22907
更新日期：2018-04-01 00:00:00
abstract：PURPOSE:To determine the disease course of retinal dystrophy caused by recessive variants in the DRAM2 (damage-regulated autophagy modulator 2) gene. METHODS:Sixteen individuals with DRAM2-retinopathy were examined (six families; age range, 19-56 years, includes one pre-symptomatic case). The change in visual acuity o...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-17604
更新日期：2015-12-01 00:00:00
abstract：PURPOSE:To measure changes in nuclear gene expression resulting from mitochondrial dysfunction in retinal pigment epithelial cells. METHODS:ARPE-19 retinal pigment epithelial cells were depleted of their mitochondrial (mt)DNA by passaging in a low concentration of ethidium bromide. Loss of mitochondrial DNA was determ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.04-1327
更新日期：2005-05-01 00:00:00
abstract：PURPOSE:To examine immune processes in the lacrimal gland of patients with chronic graft-versus-host disease (cGVHD) by evaluating the expression of surface molecules associated with T-cell activation. METHODS:Antibodies to CD4, CD8, CD34, CD40, CD54, CD80, CD86, CD154, and HLA-DR were used for immunohistochemical ana...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.02-0699
更新日期：2003-05-01 00:00:00
abstract：:Liposomes 0.5 to 5 micron in diameter and of various phospholipid compositions were used as a simplified model of rod outer segment membranes to examine the phagocytic mechanism of cultured explants of retinal dystrophic Royal College of Surgeons (RCS) and normal Long-Evans (LE) rat pigment epithelium. RCS pigment epi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1981-10-01 00:00:00
abstract：PURPOSE:Alkali burning of the rabbit cornea is a well-established model for the study of anterior surface inflammation, neovascularization, and wound-healing processes. 12-hydroxyeicosanoids have been implicated as mediators of such responses. 12(S)-hydroxyeicosatetraenoic acid (12[S]-HETE) is a lipoxygenase-derived ar...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1997-09-01 00:00:00
abstract：:Chloride ion (Cl-) secretion by the rabbit corneal epithelium involves a catecholamine-stimulated Cl- conductance at the apical membrane, but the characteristics of the ion channel(s) responsible are unknown. A primary cell culture system was developed that induces stratified epithelial differentiation of rat and rabb...
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:Melanocyte is the major cell component in the uvea. Interleukin (IL)-6 is a proinflammatory cytokine. The authors studied the expression of IL-6 in cultured human uveal melanocytes (UMs) and their modulation by IL-1β and explored the relevant signal pathways. METHODS:Conditioned media and cells were collected ...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-6908
更新日期：2011-06-01 00:00:00
abstract：:During the healing of a total corneal epithelial defect extending beyond the limbus, conjunctival transdifferentiation can be inhibited by corneal vascularization as evidenced by the lack of morphological transformation of the conjunctival epithelium into a cornea-like epithelium and the persistence of goblet cells on...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1987-03-01 00:00:00
abstract：:Various noninvasive test procedures were used to evaluate retinal function in a patient who had become night blind following vincristine chemotherapy. The results obtained were strikingly similar to those reported previously in subjects with recessively inherited stationary night blindness; the dark-adaptation curve w...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-07-01 00:00:00
abstract：PURPOSE:Excessive and continuously produced free radicals in the outer retina are implicated in retinal aging and the pathogenesis of sight-threatening retinopathies, yet measuring outer retinal oxidative stress in vivo remains a challenge. Here, we test the hypothesis that continuously produced paramagnetic free radic...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.15-18420
更新日期：2015-12-01 00:00:00
abstract：PURPOSE:To investigate possible protective effects of lens epithelium-derived growth factor (LEDGF) against photoreceptor death in light-damaged, Royal College of Surgeons (RCS) and P23H rhodopsin transgenic rats. METHODS:Twelve-week-old Sprague-Dawley (SD), 6-week-old RCS, and 10-day-old P23H (line 1, heterozygote) r...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2001-04-01 00:00:00
abstract：:The irides of albino guinea pigs were photographed, and the iris arteriolar diameters were measured with the animal breathing room air, 10% O2/90% N2, or 100% O2. The iris arterioles constrict significantly in hyperoxia and dilate in hypoxia. The average constriction in 100% O2 was 27% +/- 8%, and the average dilatati...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1983-06-01 00:00:00
abstract：:Lenses from young rhesus monkeys were incubated in the presence of H2O2 or oxygen radical generating systems to determine their suitability as a model for investigating lenticular oxidative stress. Additionally, direct comparisons were made between the effects found with the monkey lenses and those observed with cultu...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1989-10-01 00:00:00
abstract：PURPOSE:To investigate the neural basis of contraction anisocoria and any implications for assessments using pupillary responses, through analysis of topographic variation in amplitudes of direct and consensual pupil responses. METHODS:Direct and consensual pupillary contraction amplitudes were analyzed from six studi...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.10-6335
更新日期：2011-04-12 00:00:00
abstract：PURPOSE:The authors describe a method for estimating the spheric aberration (SA) of the human crystalline lens in vivo. METHODS:This method was based on a comparison of the measured change in contrast sensitivity (delta log (CSF)) of the eye and the calculated change in modulation transfer function of the cornea with ...
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:The relative effect of simultaneously administered oxygen and carbon dioxide on the retinal and cerebral vessels is still controversial. The purpose of this study was to quantify and compare the superior-temporal retinal arteriole (RA) and middle cerebral artery (MCA) responses to hypercarbic and combined hyper...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-1854
更新日期：2008-12-01 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：:Prism induced shift of fixation was measured in 12 cooperative patients utilizing electro-oculography. These recordings were compared with a voluntary shift in fixation of the same eye. No differences were noted when comparing voluntary movements with prism induced movements. Trial of the prism induced eye movement fo...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1984-10-01 00:00:00
abstract：Purpose:To examine the early glial reactivity and neuron damage in response to short-term cerebrospinal fluid pressure (CSFp) reduction, as compared with intraocular pressure (IOP) elevation. Methods:The experiment included 54 male Sprague-Dawley rats with elevated translaminar cribrosa pressure difference (TLPD), def...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.17-22232
更新日期：2018-07-02 00:00:00
abstract：PURPOSE:To examine whether Na(+)-K(+)-2Cl(-) cotransport has the potential to contribute to corneal endothelial ion and fluid transport in cultured and fresh bovine corneal endothelial cells. METHODS:Cl- and Na+ sensitive fluorescent dyes were used to measure furosemide-dependent ion fluxes in cultured and fresh endot...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：2000-02-01 00:00:00
abstract：:The color matches of 46 retinitis pigmentosa (RP) patients were found to differ significantly from those of 55 unaffected observers. The color matches of group I (trichromatic) RP observers were more protanomalous (i.e., required a greater red/green mixture ratio) than those of unaffected observers. The matches of gro...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1980-08-01 00:00:00
