Abstract:
PURPOSE:Orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of motility abnormalities in congenital fibrosis of the extraocular muscles type 3 (CFEOM3), a disorder resulting from missense mutations in TUBB3, which encodes neuron-specific beta-tubulin isotype III. METHODS:Ophthalmic examinations in 13 volunteers from four CFEOM3 pedigrees and normal control subjects, were correlated with TUBB3 mutation and MRI findings that demonstrated extraocular muscle (EOM) size, location, contractility, and innervation. RESULTS:Volunteers included clinically affected and clinically unaffected carriers of R262C and D417N TUBB3 amino acid substitutions and one unaffected, mutation-negative family member. Subjects with CFEOM3 frequently had asymmetrical blepharoptosis, limited vertical duction, variable ophthalmoplegia, exotropia, and paradoxical abduction in infraduction. MRI demonstrated variable, asymmetrical levator palpebrae superioris and superior rectus EOM atrophy that correlated with blepharoptosis, deficient supraduction, and small orbital motor nerves. Additional EOMs exhibited variable hypoplasia that correlated with duction deficit, but the superior oblique muscle was spared. Ophthalmoplegia occurred only when the subarachnoid width of CN3 was <1.9 mm. A-pattern exotropia was frequent, correlating with apparent lateral rectus (LR) muscle misinnervation by CN3. Optic nerve (ON) cross sections were subnormal, but rectus pulley locations were normal. CONCLUSIONS:CFEOM3 caused by TUBB3 R262C and D417N amino acid substitutions features abnormalities of EOM innervation and function that correlate with subarachnoid CN3 hypoplasia, occasional abducens nerve hypoplasia, and subclinical ON hypoplasia that can resemble CFEOM1. Clinical and MRI findings in CFEOM3 are more variable than those in CFEOM1 and are often asymmetrical. Apparent LR innervation by the inferior rectus motor nerve is an overlapping feature of Duane retraction syndrome and CFEOM1. These findings suggest that CFEOM3 is an asymmetrical, variably penetrant, congenital cranial dysinnervation disorder leading to secondary EOM atrophy.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Demer JL,Clark RA,Tischfield MA,Engle ECdoi
10.1167/iovs.10-5438subject
Has Abstractpub_date
2010-09-01 00:00:00pages
4600-11issue
9eissn
0146-0404issn
1552-5783pii
iovs.10-5438journal_volume
51pub_type
杂志文章abstract:PURPOSE:To quantify the role of anterior zonular tension on the optomechanical lens response during simulation of accommodation in primates. METHODS:Postmortem cynomolgus monkey eyes (n = 14; age range, 3.0-11.5 years) were dissected leaving intact the lens, zonules, ciliary body, hyaloid membrane, anterior vitreous, ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.08-2638
更新日期:2009-08-01 00:00:00
abstract:PURPOSE:To characterize the features and possible mechanism of plus disease in the mouse oxygen-induced retinopathy (OIR) model for retinopathy of prematurity. METHODS:Wild-type and Adam (A Disintegrin And Metalloproteinase) knockout mice were exposed to 75% oxygen from postnatal day 7 to 12 (P7 to P12) (hyperoxia), t...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-11492
更新日期:2013-08-07 00:00:00
abstract:Purpose:To investigate transepidermal water loss (TEWL) from the ocular area in dry eye disease (DED) and evaluate the correlation between ocular TEWL and other DED parameters. Methods:Transepidermal water loss from the ocular area in 56 eyes with DED and 38 healthy eyes was measured using a Tewameter TM300 that was e...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20109
更新日期:2016-09-01 00:00:00
abstract:PURPOSE:Focal opacities are signs of early cataractogenesis in the human lens. They progress slowly over a lifetime and may be precursors of mature cataracts. The authors analyzed changes in proteins, phospholipids, and cholesterol in these opacities using in situ techniques: Raman microspectroscopy, filipin cytochemis...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:PURPOSE:To evaluate the glaucoma progression in patients with a history of refractive corneal surgery (RCS). METHODS:A total of 313 eyes of 313 glaucoma patients (RCS group, 34 eyes; non-RCS group, 279 eyes) with a mean follow-up period of 2.7 years were included. Glaucoma progression was determined either by experts'...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.12-9862
更新日期:2012-07-03 00:00:00
abstract:PURPOSE:Previous studies have demonstrated that in 129alpha3Cx46-/- mice, age-related nuclear cataract is formed. In the present study, a more in vivo-relevant model was generated to test the hypothesis that the calpain 3 gene is involved in age-related nuclear cataractogenesis in alpha3Cx46 knockout mice. METHODS:To ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0926
更新日期:2007-06-01 00:00:00
abstract:PURPOSE:Dietary supplementation with vitamin A is sometimes prescribed as a treatment for retinitis pigmentosa, a group of inherited retinal degenerations that cause progressive blindness. Loss-of-function mutations in the ABCA4 gene are responsible for a subset of recessive retinitis pigmentosa. Other mutant alleles o...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-1470
更新日期:2008-09-01 00:00:00
abstract::Acute laser injury to the tapetum of the feline retina produces thrombosis of the choriocapillaris. Early changes are characterized by the appearance of platelet-fibrin thrombi within capillary loops and disruption of endothelial integrity. By 4 days, thrombi have disappeared, and the endothelium shows regenerative ch...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1984-09-01 00:00:00
abstract:PURPOSE:To assess the comparative accuracy of potential screening tests for open angle glaucoma (OAG). METHODS:Medline, Embase, Biosis (to November 2005), Science Citation Index (to December 2005), and The Cochrane Library (Issue 4, 2005) were searched. Studies assessing candidate screening tests for detecting OAG in ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,meta分析,评审
doi:10.1167/iovs.07-1501
更新日期:2008-12-01 00:00:00
abstract:PURPOSE:To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS:SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.09-3734
更新日期:2010-05-01 00:00:00
abstract:PURPOSE:To compare anterior segment parameters, assessed by anterior segment optical coherence tomography (ASOCT), in subjects categorized as primary angle closure suspect (PACS), primary angle closure (PAC), primary angle closure glaucoma (PACG), and previous acute PAC (APAC); and to identify factors associated with A...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.13-12285
更新日期:2013-08-07 00:00:00
abstract:PURPOSE:To demonstrate corneal endothelial (CE) integrity enhanced during eye banking by a brief treatment of human donor corneoscleral explant (explant) with CE autocrine trophic factor vasoactive intestinal peptide (VIP). METHODS:Paired explants were used as control versus VIP (10 nM)-treated before storage in corne...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-5983
更新日期:2011-07-29 00:00:00
abstract:PURPOSE:Modalities for inhibiting neovascularization may be one avenue to the development of effective therapies for retinopathy. The effect of squalamine, an antiangiogenic amino sterol, on oxygen-induced retinopathy (OIR) was assessed in a mouse model. METHODS:OIR was induced in C57BL6 mice by a 5-day exposure to 75...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:To characterize the effect of postural IOP elevation and pharmacological IOP lowering on retinal ganglion cell (RGC) function in the DBA/2J mouse model of glaucoma. METHODS:Four groups of DBA/2J mice (3 months old, n = 7; 5 months old, n = 7; 10 months old, n = 7; and 11 months old, n = 8) were anesthetized by...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0582
更新日期:2007-10-01 00:00:00
abstract:Purpose:To evaluate the potential of lactoferrin (Lf) as a diagnostic biomarker for ocular diseases using a meta-analytic approach. Methods:All original studies reporting an estimate of the average Lf concentration in healthy subjects and those affected by ocular diseases were searched up to March 2020. The DerSimonia...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.61.12.9
更新日期:2020-10-01 00:00:00
abstract:PURPOSE:Optic neuritis (ON) is a condition involving primary inflammation, demyelination, and axonal injury in the optic nerve and leads to apoptotic retinal ganglion cell (RGC) death, which contributes to the persistence of visual loss. Currently, ON has no effective treatment. The goal was to determine the effectiven...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8419
更新日期:2012-01-25 00:00:00
abstract::To determine whether glaucoma selectively injures a particular size of optic nerve fiber (and its cell body), we induced chronic experimental glaucoma in one eye each of ten monkeys. With automated image analysis, the number and diameter of optic nerve fibers were compared between each glaucomatous eye and its normal ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1987-06-01 00:00:00
abstract:PURPOSE:Vergence eye movements undergo adaptive recalibration in response to a training stimulus in which the initial disparity is changed just after vergence begins (the double-step paradigm). In the present study the changes in the dynamic properties of convergence, speed and acceleration, were examined by using this...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-06-01 00:00:00
abstract::The laser Doppler technique was used to measure alterations in retinal blood flow in human subjects under dark-adapted conditions compared to light-adapted conditions. Retinal blood flow increased 40 to 70% after the transition from light to dark. We show quantitatively that the measured increases in retinal blood flo...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00
abstract:PURPOSE:Activation of complement has been implicated as one of the major causes of age-related macular degeneration (AMD). Evidence is accumulating for a role of complement in other retinal diseases, such as diabetic retinopathy and proliferative vitreoretinopathy. Because of the paucity of animal models that directly ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6002
更新日期:2011-05-18 00:00:00
abstract:PURPOSE:To determine the interaction of M3 muscarinic receptors (M3AChR) and P2X(7) receptors to increase intracellular [Ca2+] ([Ca2+]i) and stimulate protein secretion in rat lacrimal gland cells. METHODS:Exorbital lacrimal glands from male Sprague-Dawley rats were divided into pieces or digested with collagenase to ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-7210
更新日期:2011-05-01 00:00:00
abstract:PURPOSE:To determine whether human retinal pigment epithelial (hRPE) cells produce activin, a growth factor in the transforming growth factor beta family, and to characterize growth regulatory effects of activin on retinal pigment epithelium. METHODS:mRNA expression was examined using polymerase chain reaction with pr...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract:PURPOSE:The Farnsworth-Munsell 100-Hue test (FM100) is a standardized measure of chromatic discrimination, based on colored cap-sorting, which has been widely used in both adults and children. Its dependence on seriation ability raises questions as to its universal suitability and accuracy in assessing purely sensory d...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-16094
更新日期:2015-05-01 00:00:00
abstract:PURPOSE:To investigate immediate and long-term changes in static ocular alignment with acute acquired superior oblique palsy (SOP) in monkeys. METHODS:The trochlear nerve was severed intracranially in two rhesus monkeys. After the surgery, the paretic eye was patched for 6 to 9 days, and then binocular viewing was all...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-1316
更新日期:2007-06-01 00:00:00
abstract:PURPOSE:To examine the possibility that ocular surface epithelial cells might be grown in culture for use as grafts. METHODS:The proliferative capacity of epithelial cells cultured from the conjunctiva, limbus, and central cornea of normal human eyes was compared. Single cells disaggregated from approximately 1 mm2 bi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1993-08-01 00:00:00
abstract::Ocular malformations and visual deficits are pathognomic of fetal alcohol syndrome (FAS). However, there are no reports on retinal visual function. To determine if prenatal (human second-trimester equivalent) or prenatal plus 10 days of postnatal (human third-trimester equivalent) ethanol exposure produced scotopic an...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract:Purpose:The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods:Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, exte...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20427
更新日期:2017-02-01 00:00:00
abstract::A method of analysing fluorescein angiograms that yields a parameter of intraocular blood flow designated as the fluorescein appearance rate is presented. The appearance rate was decreased in those eyes in which intraocular pressure (Pi) was found to be increased. The appearance rate was also decreased in the two case...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1983-03-01 00:00:00
abstract::The capacities of porcine choroidal fibroblasts, retinal glial cells, and retinal pigment epithelial cells to contract collagen gels in vitro were compared. Experiments with varied cell numbers indicated that glial cells are the most effective, followed by choroidal fibroblasts and retinal pigment epithelial cells. An...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1992-07-01 00:00:00
abstract:Purpose:To examine the impact of small pupils and light levels on reading performance of distance-corrected presbyopes. To determine whether small pupils would enable presbyopes to read at near even at low light levels. Methods:To establish the lower range of text luminances, we quantified the space-averaged luminance...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.16-20008
更新日期:2016-10-01 00:00:00