Abstract:
:Familial exudative vitreoretinopathy (FEVR) is a disease exhibits a wide range of clinical signs, ranging mild peripheral retinal vascular anomalies to severe retinal detachments. Individuals with mild FEVR are frequently asymptomatic with good visual function and are often undiagnosed. However, little is known about the genetic characters of the cohort. The purpose of this study was to investigate the clinical characteristics and genetic spectrum of in patients with asymptomatic mild FEVR. Herein, sixty-two patients (124 eyes) with asymptomatic mild FEVR were studied in a case series. Comprehensive ophthalmic examinations and genetic testing were performed in all patients. Clinical examinations showed that the avascular zone was seen in all 124 eyes and was the most common abnormality observed. Increased vessel branching and straightened peripheral vessel branches were found in 122 (98.4%) eyes. Late-phase angiographic posterior and peripheral leakage (LAPPEL) was observed in 80 (64.5%) eyes and V-shape degeneration was noted in 36 (29.0%) eyes. Other manifestations including extensive anastomoses, retinal ridges, and extraretinal neovascularization, which were detected in 30 (24.2%), 10 (8.1%) and 2 (1.6%) eyes respectively. Overall, pathogenic mutations were identified in 48.4% (30/62) of individuals with asymptomatic mild FEVR. Mutations in FZD4, LRP5, TSPAN12, and KIF11 were detected in 21.0% (13/62), 12.9% (8/62), 12.9% (8/62), and 1.6% (1/62) of our patients respectively. Ten novel mutations were found. In conclusion: Pathogenic mutations in the known FEVR-associated genes were detected in nearly half (48.4%) of the asymptomatic mild FEVR cohort. Among these mutations, FZD4 was predominant, appearing in 21.0% of all individuals. Patients with asymptomatic mild FEVR should receive timely examinations, lifelong monitoring, and some of them need preventive therapy and treatment. Additionally, we discovered 10 novel variants, which may enable a deeper understanding of this disease.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Chen C,Sun L,Li S,Huang L,Zhang T,Wang Z,Yu B,Ding Xdoi
10.1016/j.exer.2020.107941subject
Has Abstractpub_date
2020-03-01 00:00:00pages
107941eissn
0014-4835issn
1096-0007pii
S0014-4835(20)30004-Xjournal_volume
192pub_type
杂志文章abstract::The corneal endothelial monolayer helps maintain corneal transparency through its barrier and ionic "pump" functions. This transparency function can become compromised, resulting in a critical loss in endothelial cell density (ECD), corneal edema, bullous keratopathy, and loss of visual acuity. Although penetrating ke...
journal_title:Experimental eye research
pub_type: 杂志文章,评审
doi:10.1016/j.exer.2011.08.014
更新日期:2012-02-01 00:00:00
abstract::Preretinal pH was measured in the avascular region of 19 rabbit retinas during alternating cycles of light and dark, using a miniature, needle-type pH electrode. In 14 experiments with the rabbits breathing room air, cyclic changes in pH, decreasing in the dark and increasing in the light, were observed. The transitio...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(91)90106-o
更新日期:1991-12-01 00:00:00
abstract::Inadequate cross-linking between collagen lamellae is a characteristic feature of keratoconus corneas. The formation of covalent bonds between collagen and elastin fibrils, which maintain the biomechanical properties of the cornea, is mediated by the cuproenzyme lysyl oxidase and four lysyl oxidase-like enzymes. The a...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2012.09.005
更新日期:2012-11-01 00:00:00
abstract::To investigate the nature of the 140 kDa glycoprotein in the trabecular meshwork, polypeptides were extracted with either urea/sodium dodecyl sulfate (SDS)/beta-2-mercaptoethanol (BME) or guanidine hydrochloride followed by pepsin digestion. After electrophoresis and immunoblotting with anti-type-VI-collagen antibodie...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1994.1006
更新日期:1994-02-01 00:00:00
abstract::The proliferation, migration and transdifferentiation of the remaining lens epithelial cells (LECs) after cataract surgery are a major cause of posterior capsular opacification (PCO). It has previously been reported that salmosin, a novel disintegrin, significantly inhibits solid tumor growth in mice by perturbation o...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.2001.1150
更新日期:2002-05-01 00:00:00
abstract::Glutamine, the end product formed by the glutamine synthetase (GS) reaction, inhibits retinal GS activity in the presence of Mn2+, but not in the presence of Mg2+. In the presence of Mg2+, Mn2+ itself inhibits retinal GS activity. Other compounds which inhibit retinal GS activity significantly are methionine sulfoximi...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(85)90109-5
更新日期:1985-01-01 00:00:00
abstract::Both in vivo and in vitro models were employed in the present study to assess the relative contribution of osmotic stress and increasing calcium levels to the development of sugar cataracts. In galactose cataract obtained from galactosemic weanling rats, the concentration of total calcium increased by nearly 10% at th...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1998.0486
更新日期:1998-06-01 00:00:00
abstract::The spontaneously hypertensive rats (SHR) show a lower intraocular pressure--despite high arterial blood pressure--than the normotensive Wistar Kyoto rats (NR). In SHR the quantitative evaluation of resin casts and flat-mount preparations of the blood vessels of the ciliary body and choroid showed a significant dilati...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(85)90004-1
更新日期:1985-02-01 00:00:00
abstract::Small, experimental, non-rhegmatogenous retinal detachments (blebs) in rabbit eyes resorbed 50% more slowly when filled with autologous serum than with Hanks' solution. To study the fate of large molecules in the subretinal space, carboxyfluorescein and several sizes of FITC-dextrans were injected into blebs and their...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(85)90138-1
更新日期:1985-05-01 00:00:00
abstract::Crystalline lenses excised from 5-7-month-old rabbits and pigs were extracted for lipids with chloroform/methanol, 2/1 using the Folch method. The extracted crude lipids were analyzed at 202 MHz by 31P-NMR spectroscopy. Twelve membrane phospholipids were detected. Both rabbit and pig phospholipid profiles contained ph...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(90)90207-b
更新日期:1990-03-01 00:00:00
abstract::Phosducin is a retinal and pineal phosphoprotein assumed to play an important role in visual phototransduction. Phosducin is also a uveitopathogenic retinal antigen, but its potency has been reported to be mild. During the course of studies aimed at identifying uveitopathogenic sites in phosducin, we found that rat ph...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1997.0379
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND:Absence of collagen VII causes blistering of the skin, eyes and many other tissues. This disease is termed dystrophic epidermolysis bullosa (DEB). Corneal fibrosis occurs in up to 41% and vision loss in up to 64% of patients. Standard treatments are supportive and there is no cure. The hypomorphic mouse mode...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2018.06.008
更新日期:2018-10-01 00:00:00
abstract::Changes in activities of ascorbate free radical (AFR) reductase (NADH:AFR oxidoreductase) and H2O2-dependent NADH oxidation were correlated with levels of insoluble protein in senile cataractous human lenses. The H2O2-dependent NADH oxidation activity was measured to reflect the content of free glutathione. AFR reduct...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(90)90128-h
更新日期:1990-06-01 00:00:00
abstract::Retinitis Pigmentosa (RP) is an inherited disorder that may lead to blindness. In the rhodopsin S334ter-line-3 rat model of RP, the death of rods induces spatial rearrangement of cones into regular ring mosaics. Using this model, we discovered that the ring mosaics are restored to a homogeneous distribution upon appli...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2015.08.005
更新日期:2015-11-01 00:00:00
abstract::Choroidal neovascularization (CNV) associated with the 'wet' form of age related macular degeneration (AMD) is one of the most common causes of central vision loss among the elderly. The 'wet' form of AMD is currently treated by intravitreal delivery of anti-VEGF agents. However, intravitreal injections are associated...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2015.09.005
更新日期:2015-11-01 00:00:00
abstract::The purpose of this study was to evaluate specific keratocyte phenotypes (keratocyte, fibroblast, myofibroblast) for cell contractility and ability to contract extracellular matrix. Rabbit keratocyte phenotype was modulated by exposure to optimal proliferative doses of IGF-I, IL-1alpha, FGF2, PDGF-AB, and TGFbeta(1). ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/s0014-4835(03)00188-x
更新日期:2003-11-01 00:00:00
abstract::Age-related Macular Degeneration (AMD) is the leading cause of visual impairment and blindness in the elderly in developed countries. Neovascular/exudative (wet) AMD is the aggressive form of AMD and can involve choroidal neovascularization and vascular leakage. Anti-vascular endothelial growth factor (anti-VEGF) medi...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2016.02.010
更新日期:2016-04-01 00:00:00
abstract::The purpose of this study was to correlate potential mechanisms with site(s) of action for TNPA-induced ocular hypotension. In response to R(-)-2, 10, 11-trihydroxy-N-propyl-noraporphine hydrobromide (TNPA, 75 microg), a D2 dopamine receptor agonist, the intraocular pressure decreased by 4.5 and 8 mm Hg at 1 and 2 hr,...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1999.0734
更新日期:1999-12-01 00:00:00
abstract::In retinal degenerative disease (RD), the diminished light signal from dying photoreceptors has been considered the sole cause of visual impairment. Recent studies show a 10-fold increase in spontaneous activity in the RD network, challenging this paradigm. This aberrant activity forms a new barrier for the light sign...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2015.05.013
更新日期:2016-09-01 00:00:00
abstract::The lacrimal functional unit (LFU) is defined by the 2007 International Dry Eye WorkShop as 'an integrated system comprising the lacrimal glands, ocular surface (cornea, conjunctiva and meibomian glands) and lids, and the sensory and motor nerves that connect them'. The LFU maintains a healthy ocular surface primarily...
journal_title:Experimental eye research
pub_type: 杂志文章,评审
doi:10.1016/j.exer.2008.09.002
更新日期:2009-05-01 00:00:00
abstract::Hypoxia-inducible factor (HIF) signaling cascade plays a critical role in angiogenesis by activating the transcription of genes encoding angiogenic growth factors. This study evaluated the effects of YC-1, a HIF-1 inhibitor, on the morphological, biochemical and molecular changes in human retinal microvascular endothe...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2009.06.013
更新日期:2009-11-01 00:00:00
abstract::Research in animal models have shown that exposing the eye to positive or negative spectacle lenses can lead to predictable changes in eye growth. Recent research indicates that brief periods (1-2 h) of monocular defocus results in small, but significant changes in axial length and choroidal thickness of human subject...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2019.03.019
更新日期:2019-05-01 00:00:00
abstract::SPACRCAN is a novel proteoglycan present in the interphotoreceptor matrix (IPM) of the rat and human retina that resists aqueous extraction through its binding to hyaluronan. The purpose of this study was: to clone mouse Spacrcan; to characterize the promoter elements; to define the deduced amino acid sequence; to est...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/s0014-4835(02)00273-7
更新日期:2003-01-01 00:00:00
abstract::We have studied the growth of neurites from single retinal ganglion cells isolated from adult goldfish and maintained under various primary cell culture conditions. In 10% Leibovitz's L-15 medium at 23 degrees C, these ganglion cells remained viable for up to 10 days and generated extensive fields of neurites. We foun...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(91)90257-f
更新日期:1991-02-01 00:00:00
abstract::The aim of this study was to test the selectivity, in-vivo effectiveness, and potential mechanism of action of a linomide analogue (N-phenyl-1,2-dihydro-4-hydroxyl-2-oxo-quinoline-3-carboxamide, Lin05) for inhibition of choroidal neovascularization. The selectivity of Lin05 was tested in cell proliferation assays with...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2010.10.013
更新日期:2010-12-01 00:00:00
abstract::The causes of vitreous humor (VH) liquefaction remain unclear. Diabetes accelerates this process and other ocular diseases. The weakening of the blood-retina barrier observed with diabetes could enhance the rate of transfer of relatively small molecules such as glucose (Glu) and phospholipids (PLs) from the retina to ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/j.exer.2020.108221
更新日期:2020-11-01 00:00:00
abstract::Macromolecular cell markers are essential for the classification and characterization of the highly complex and cellularly diverse vertebrate retina. Although a plethora of markers are described in the current literature, the immunoreactivity of these markers in normal human tissue has not been fully determined. This ...
journal_title:Experimental eye research
pub_type: 杂志文章,评审
doi:10.1016/j.exer.2016.01.002
更新日期:2016-09-01 00:00:00
abstract::Na,K-ATPase was detected in crude microsomes of guinea-pig retinal layers, cornea and lens by immunoblotting using antibodies generated against purified kidney Na,K-ATPase. The antiserum cross-reacted with the alpha catalytic subunit of the enzyme from the eye tissues but not the beta glycoprotein subunit, suggesting ...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(85)90136-8
更新日期:1985-05-01 00:00:00
abstract::The in vitro and in vivo effects of a new immunomodulating agent, bucillamine, on experimental autoimmune uveitis (EAU) was studied in the rat. The capacity of S-antigen-sensitized lymphocytes to proliferate in response to the antigen or to produce antigen-specific antibodies was significantly suppressed by bucillamin...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1006/exer.1994.1036
更新日期:1994-04-01 00:00:00
abstract::The binding of monoclonal and polyclonal antibodies to glial fibrillary acidic protein (GFAP) antigenic sites in the rabbit retina was shown to be sensitive to aldehyde fixation. In chemically unfixed retina, the polyclonal anti-GFAP labeled Müller cells, astrocytes, and unidentified profiles in the outer plexiform la...
journal_title:Experimental eye research
pub_type: 杂志文章
doi:10.1016/0014-4835(90)90139-l
更新日期:1990-04-01 00:00:00