Abstract：
:Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular tissue), the so-called MAC spectrum. This review gives a brief overview of the developmental biology behind coloboma and its clinical presentation/spectrum. Special attention will be given to two prominent, syndromic forms of coloboma, namely, CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies/deafness) and COACH (Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) syndromes. Approaches employed to identify genes involved in optic fissure closure in animal models and recent advances in live imaging of zebrafish eye development are also discussed.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
George A,Cogliati T,Brooks BPdoi
10.1016/j.exer.2020.107940subject
Has Abstractpub_date
2020-04-01 00:00:00pages
107940eissn
0014-4835issn
1096-0007pii
S0014-4835(19)30600-1journal_volume
193pub_type
杂志文章,评审abstract：:Previous evidence has shown clearly that sugar cataract formation results from unusually high intracellular levels of polyol. Documentation of polyol-related histological changes in the cortical fiber cells of the equatorial zone has been extensive. However, little attention has been given to the early changes in the ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(90)90107-6
更新日期：1990-06-01 00:00:00
abstract：:Elevated intraocular pressure (IOP) is thought to create distortion or stretching of the juxtacanalicular and Schlemm's canal cells and their extracellular matrix (ECM) leading to a cascade of events that restore IOP to normal levels, a process termed IOP homeostasis. The ECM of the trabecular meshwork (TM) is intrica...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2016.06.009
更新日期：2017-05-01 00:00:00
abstract：:With the combined purpose of facilitating useful vision over a lifetime, a number of ocular cells have evolved specialized features not found elsewhere in the body. The trabecular meshwork (TM) cell at the irido-corneal angle, which is a key regulator of intraocular pressure, is no exception. Examination of cells in c...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2016.07.009
更新日期：2017-05-01 00:00:00
abstract：:Recent studies have shown that lactate coupled water flux is the underlying mechanism of the corneal endothelial pump, which is highly dependent on the presence of bicarbonate. In this study we test the hypothesis that the increased intracellular pH (pHi) caused by bicarbonate stimulates glycolytic activity and the pr...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2020.108193
更新日期：2020-10-01 00:00:00
abstract：:Diabetic retinopathy is a sight-threatening complication of diabetes, characterized by loss of retinal pericytes and abnormal angiogenesis. We previously demonstrated that extracellular vesicles (EVs) derived from mesenchymal stem cells cultured in diabetic-like conditions are able to enter the pericytes, causing thei...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2018.07.003
更新日期：2018-11-01 00:00:00
abstract：:Jin H. Kinoshita has had a major role in fostering investigations on the molecular biology of the eye during his tenure as Scientific Director of the National Eye Institute (N.E.I.). His appreciation and support of molecular biology have been the basis for many advances in this area in the N.E.I. and have led to a fer...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/0014-4835(90)90121-a
更新日期：1990-06-01 00:00:00
abstract：:The extracellular matrix (ECM) plays a significant role in cellular and retinal health. The study of retinal tyrosine-sulfated proteins is an important first step toward understanding the role of ECM in retinal health and diseases. These secreted proteins are members of the retinal ECM. Tyrosine sulfation was shown to...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2014.07.007
更新日期：2015-04-01 00:00:00
abstract：:Over the past 40 years, several groups have shown that epithelial debridement results in the death of keratocytes subjacent to the wound area. More recently this cell death has been shown to involve apoptosis. The purpose of this project was to examine the proliferative response of the normally quiescent keratocytes t...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2000.0926
更新日期：2001-01-01 00:00:00
abstract：:Argon laser energy was applied to the trabecular meshwork of pigmented rabbits in an attempt to develop an animal model of 'glaucoma'. Laser energy was varied to determine the optimal level needed to produce sustained ocular hypertension. An initial response of ocular hypertension followed by hypotension was observed ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(86)90067-9
更新日期：1986-12-01 00:00:00
abstract：:In a previous investigation into the fate of fluorescently labelled antigen (Ag) injected into the anterior chamber (AC) of the rat eye, a large number of Ag+ cells were noted in the conventional and non-conventional aqueous humour outflow pathways together with the external limbus. The aim of this study was to invest...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2004.06.009
更新日期：2004-10-01 00:00:00
abstract：:Recent studies indicate a key role of Mitf (microphthalmia-associated transcription factor) in the differentiation of the retinal pigment epithelium (RPE). To explore transdifferentiation processes, we used small interfering RNA (siRNA) targeting Mitf. Transfection of embryonic chick RPE cells with a non-silencing flu...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2005.01.004
更新日期：2005-07-01 00:00:00
abstract：:To trace the path taken by the putative postganglionic secretomotor fibres to the lacrimal gland the contents of the orbital and pterygopalatine fossa were removed whole, cut coronally into slabs and embedded in resin. Thin sections were cut at varying intervals to reconstruct the pathway taken. One group of rami orbi...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2003.06.001
更新日期：2004-03-01 00:00:00
abstract：:Electrical field stimulation produced contractions of the rabbit isolated iris sphincter muscle which were completely blocked by tetrodotoxin (10(-6) M). Low frequency (0.16-5 Hz) responses were atropine-resistant, but were prevented by sensory (trigeminal) denervation, and were considered to be owing to antidromic st...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(84)90099-x
更新日期：1984-02-01 00:00:00
abstract：:The purpose of our study was to establish a system for culturing normal human conjunctival epithelial (NHCE) cells under serum-free culture conditions without compromising their ability to differentiate into a mucous epithelium. To this end, small pieces of normal conjunctiva were biopsied from patients undergoing cat...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2007.04.005
更新日期：2007-08-01 00:00:00
abstract：:Specific [3H]-dexamethasone binding sites were demonstrated in bovine corneal cytosol using titration analyses. Specific glucocorticoid binding to corneal cytosol exhibited a single class of sites with apparent dissociation constants of 4-6 nM and 68-72 fmol binding sites mg-1 cytosolic protein. Association of steroid...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(84)90188-x
更新日期：1984-04-01 00:00:00
abstract：:A lateral potential drop along the outer surface of the cornea could be measured at the edge of wounds made in the corneal epithelium of the isolated bovine eye when the cornea was covered by simulated tear film of modified Hanks' solution. These lateral fields (LFs) had an average magnitude of 42 +/- 1.4 mV mm-1 in t...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(92)90164-n
更新日期：1992-06-01 00:00:00
abstract：:Ultraviolet A (UVA) light-based photoactivation of riboflavin (Rf) to induce corneal crosslinking (CXL) and mechanical stiffening is now a well-known treatment for corneal ectasia and Keratoconus that is being used in a topographically guided photorefractive intrastromal CXL (PiXL) procedure to treat low degrees of re...
journal_title：Experimental eye research
pub_type： 杂志文章,评审
doi：10.1016/j.exer.2020.108199
更新日期：2020-10-01 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 Raman microspectroscopic method was used to determine the local water and protein content in human lenses. In 18 lenses of varying age position-defined water/protein content measurements were carried out along the visual and the equatorial axis. A main characteristic of the human lens is its constant and relativel...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(91)90079-t
更新日期：1991-08-01 00:00:00
abstract：:Cell lines derived from the lens generally fail to maintain synthesis of crystallins in long-term culture. Here we demonstrate that the N/N1003A line of undifferentiated lens epithelial cells, derived from a newborn rabbit, does not produce detectable levels of alpha-, beta- or gamma-crystallin transcripts, yet is cap...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(89)90026-2
更新日期：1989-01-01 00:00:00
abstract：:Tissue from the outflow system of six surgically enucleated aged eyes was used for an ultrastructural immunocytochemical study of the distribution of laminin and type IV collagen. The immunogold technique provided precise localization of laminin beneath lining endothelial cells of the inner wall of Schlemm's canal. La...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(90)90054-x
更新日期：1990-12-01 00:00:00
abstract：:Matrix metalloproteinase-2 (MMP-2), matrix metalloproteinase-9 (MMP-9) and vascular endothelial growth factor (VEGF) are all implicated in the development of neovascularization. To investigate the possible role of these factors in corneal neovascularization we have analysed the expression of MMP-2, MMP-9 and VEGF in a...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.1999.0790
更新日期：2000-04-01 00:00:00
abstract：:The purpose of this study was to investigate the roles of endothelium-derived factors in the retinal arteriolar responses to acute severe elevation in systemic blood pressure (BP) in cats. Acute elevation of mean arterial BP by 60% for 5 min was achieved by inflating a balloon-tipped catheter in the descending aorta. ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2012.08.007
更新日期：2012-10-01 00:00:00
abstract：:Mice carrying the rd mutation are affected with an autosomal recessive disease characterized by the total degeneration of retinal photoreceptor cells, which begins at postnatal day 8 and reaches completion by 3 wk of life. Biochemical studies have led to the proposal that a lesion in cGMP metabolism may be the cause o...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/s0014-4835(89)80079-x
更新日期：1989-02-01 00:00:00
abstract：:Bubble-based acoustic radiation force aims to measure highly localized tissue viscoelastic properties. In the current investigation, acoustic radiation force was applied to laser-induced bubbles to measure age-related changes in the spatial distribution of elastic properties within in vitro porcine lenses. A potential...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2006.10.007
更新日期：2007-02-01 00:00:00
abstract：:To assess the ability of dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) to detect blood retinal barrier (BRB) damage in patients with diabetic macular edema (DME). DCE-MRI with 0.1 mmol Gd-DTPA was used to measure BRB permeability in 10 healthy and visually normal subjects and eight patients with DME, ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2005.01.015
更新日期：2005-07-01 00:00:00
abstract：:The response of the poikilothermal lens to various incubation temperatures in vitro was compared with that of the homothermal lens. The rainbow trout lens was used as the poikilothermal lens and the rat lens as the homothermal lens. In contrast to rat lenses, cataract developed at 37 degrees C in rainbow trout lenses,...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/0014-4835(85)90021-1
更新日期：1985-08-01 00:00:00
abstract：:Fatty Liver Shionogi (FLS) mice have been shown to develop a hereditary disorder characterized by localized retinochoroidal defects of the ventral fundus very similar to human typical ocular coloboma without microphthalmia. The objective of this study was to determine when and how the failure of the optic fissure clos...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2011.12.004
更新日期：2012-01-01 00:00:00
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 ...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1016/j.exer.2020.107941
更新日期：2020-03-01 00:00:00
abstract：:Innervated myotendinous cylinders (IMCs) in rabbit extraocular muscles (EOMs) were identified for the first time. The nature of IMC nerve terminals was demonstrated by means of electron microscopy and double fluorescent staining. The distal EOM portions of four rabbits of different age and sex were prepared for transm...
journal_title：Experimental eye research
pub_type： 杂志文章
doi：10.1006/exer.2001.1085
更新日期：2001-12-01 00:00:00
