Abstract：
PURPOSE:To report a novel mutation of the CYP1B1 gene in a Japanese patient with primary infantile glaucoma. METHODS:DNA was extracted from leukocytes of six unrelated patients with primary infantile glaucoma. The coding regions of the CYP1B1 gene were amplified by polymerase chain reaction, examined by agarose gel separation and heteroduplex methods, and directly sequenced. RESULTS:One of the patients with primary infantile glaucoma had a mutation of the CYP1B1 gene, with an abnormal shift in agarose gel separation and heteroduplex analysis. Direct sequencing disclosed a homozygous insertion of guanine at nucleotide 1620 of exon 3, which produced a frameshift leading to premature termination of amino acid translation. The patient was male and had sporadic, classic primary infantile glaucoma. None of the other five patients with infantile glaucoma, the 30 patients with primary adult-onset glaucoma, or the 70 healthy control subjects showed any abnormalities in the CYP1B1 gene. CONCLUSIONS:This is the first report of CYP1B1 gene mutation in primary infantile glaucoma from the Eastern world. CYP1B1 gene mutation for primary infantile glaucoma spreads worldwide, but its prevalence may have ethnic or geographic differences.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Kakiuchi T,Isashiki Y,Nakao K,Sonoda S,Kimura K,Ohba Ndoi
10.1016/s0002-9394(99)00143-9subject
Has Abstractpub_date
1999-09-01 00:00:00pages
370-2issue
3eissn
0002-9394issn
1879-1891pii
S0002939499001439journal_volume
128pub_type
杂志文章abstract：:We compared quantitative histologic counts of ten subjects with vernal conjunctivitis to counts of 15 subjects with contact lens-associated giant papillary conjunctivitis and to counts of 15 normal subjects. Both vernal conjunctivitis and contact lens-associated giant papillary conjunctivitis subjects had abnormalitie...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(79)90247-2
更新日期：1979-04-01 00:00:00
abstract：PURPOSE:To critically evaluate the potential impact of the coronavirus disease (COVID-19) pandemic on global ophthalmology and VISION 2020. DESIGN:Perspective supplemented with epidemiologic insights from available online databases. METHODS:We extracted data from the Global Vision Database (2017) and Global Burden of...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.11.016
更新日期：2020-12-09 00:00:00
abstract：PURPOSE:To report an unusual complication of accommodative intraocular lens (IOL) implantation after clear lens extraction for hyperopia correction. DESIGN:Observational case report. METHOD:A 48-year-old woman underwent clear lens exchange for the correction of moderate hyperopia. A Crystalens Model AT-45 Accommodati...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.02.040
更新日期：2005-08-01 00:00:00
abstract：PURPOSE:beta-Adrenergic blocking drugs lower intraocular pressure. The question of whether these drugs also alter, either directly or indirectly, orbital hemodynamics is potentially of great importance for patients with normal-tension glaucoma who may have some degree of reversible vasospasm. METHODS:We compared the e...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0002-9394(14)72604-2
更新日期：1995-08-01 00:00:00
abstract：:We treated 84 patients with a partially refractive accommodative esotropia with bifocals. Twelve patients were able to fuse without bifocals at the end of therapy; in 19, the bifocal power could be reduced and further improvement can be expected in the future. Thirty-nine remained dependent on bifocals; and in 14, fus...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)78113-9
更新日期：1978-06-01 00:00:00
abstract：PURPOSE:To document and study the cross-sectional structures of polypoidal elements using optical coherence tomography in eyes with idiopathic polypoidal choroidal vasculopathy. METHODS:Optical coherence tomography images of two eyes with idiopathic polypoidal choroidal vasculopathy were correlated with slit-lamp biom...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(98)00411-5
更新日期：1999-03-01 00:00:00
abstract：:We reviewed the charts of 29 patients with large subretinal hemorrhages involving the center of the fovea to evaluate factors that might be prognostic of visual outcome. The average final visual acuity was 20/480 with a mean follow-up of three years. Patients with thick hemorrhages (causing an obvious elevation of the...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75575-8
更新日期：1990-01-15 00:00:00
abstract：PURPOSE:To analyze factors influencing corneal graft re-epithelialization after penetrating keratoplasty (PK) and evaluate the effect of topical autologous serum in promoting graft re-epithelialization. DESIGN:Prospective interventional study. METHODS:We analyzed 165 eyes of 165 patients who underwent PK between Janu...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.03.024
更新日期：2010-09-01 00:00:00
abstract：PURPOSE:To measure peripapillary retinal nerve fiber layer volume in normal subjects and patients with ocular hypertension, primary open-angle glaucoma, and low-tension glaucoma. METHODS:Sixty-five subjects were classified into four groups of normal subjects and subjects with ocular hypertension, primary open-angle gl...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00464-x
更新日期：2000-05-01 00:00:00
abstract：PURPOSE:To describe the clinical features and management of ocular surface squamous neoplasia (OSSN) after corneal graft. DESIGN:Retrospective case series of 4 patients. METHODS:Four eyes of 4 patients treated for OSSN after corneal graft in an institutional setting were included. All 4 patients were treated with top...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2009.07.026
更新日期：2010-01-01 00:00:00
abstract：PURPOSE:To expand our understanding of the uncommon entity, referred to as perifoveal exudative vascular anomalous complex (PEVAC) by describing multimodal imaging findings, including optical coherence tomography angiography (OCT-A). DESIGN:Retrospective cohort study. METHODS:Patients diagnosed with PEVAC were identi...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2017.10.009
更新日期：2017-12-01 00:00:00
abstract：:Ultrashort, Q-switched or mode-locked, neodymium-YAG laser pulses focused within 2 mm of the retina caused reproducible retinal damage in four eyes of two monkeys and in four eyes of three rabbits. The distance of the laser focus from the retina for clinically observed threshold retinal damage was characterized for pu...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)77782-7
更新日期：1983-08-01 00:00:00
abstract：:In 98 patients, 112 eyes with chronic closed-angle or combined glaucoma were operated on using filtering iridocycloretraction, including preparation of two limbal-based scleral strips that were introduced through scleral incisions into the anterior chamber and the supraciliary space. The intraocular pressure was contr...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(85)90366-6
更新日期：1985-03-15 00:00:00
abstract：PURPOSE:The Vogt-Koyanagi-Harada's (VKH) Disease Committee established the "Revised diagnostic criteria for VKH disease" in 2001. The purpose of the present study was to assess the concordance between these criteria and the traditional Sugiura's diagnosis system. DESIGN:Observational case series. METHODS:The medical ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.01.046
更新日期：2005-06-01 00:00:00
abstract：PURPOSE:To report a new method to perform intraoperative video fluorescein angiography (VFA) using an optical fiber-free intravitreal surgery system (OFFISS) and retinal blood flow analysis during surgery. DESIGN:Observational case series. METHODS:Four eyes of four patients with macular edema as a result of branch re...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.06.079
更新日期：2004-12-01 00:00:00
abstract：:Long-term medical therapy and laser trabeculoplasty have been implicated as risk factors in the outcome of glaucoma filtration surgery. A retrospective analysis was performed of patients undergoing primary trabeculectomy during three key periods: before use of beta-blockers and laser trabeculoplasty (1975 and 1976), a...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)73068-5
更新日期：1994-02-15 00:00:00
abstract：PURPOSE:To evaluate the safety and potential efficacy of gevokizumab, an anti-interleukin 1β (IL-1β) monoclonal antibody, in the treatment of active, noninfectious, non-necrotizing anterior scleritis. DESIGN:Phase 1/2, open label, nonrandomized, prospective, single-arm pilot trial. METHODS:Eight patients with active,...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ajo.2016.09.017
更新日期：2016-12-01 00:00:00
abstract：:We have written a program in BASIC language which stores, recalls, and manipulates a limited amount of clinical information that we use in teaching and clinical practice. The program runs on an IBM personal computer with Microsoft DOS and BASIC. An illustrative search routine uses simple data simulation of the results...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(85)90007-8
更新日期：1985-04-15 00:00:00
abstract：:With a recently developed technique for quantifying the geometry of the anterior chamber in optical cross section (slit-lamp photography using the Scheimpflug principle and computer correction for the optical effects of the cornea), we studied the iris contour before and after iridotomy in six patients with narrow ant...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)76341-x
更新日期：1990-09-15 00:00:00
abstract：PURPOSE:To identify factors related to graft rejection following Descemet stripping automated endothelial keratoplasty (DSAEK) in the Cornea Preservation Time Study (CPTS). DESIGN:Cohort study within a multicenter randomized clinical trial. METHODS:A total of 1330 eyes of 1090 subjects undergoing DSAEK were randomize...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.ajo.2018.10.005
更新日期：2018-12-01 00:00:00
abstract：PURPOSE:To characterize crystalline lens dimensions derived from in-vivo spectral-domain optical coherence tomography (SD-OCT) and identify associations between these parameters, ocular biometry and age. METHODS:In this retrospective study, lens thickness (LT), lens diameter (LD) and lens volume (LV) were measured int...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.12.021
更新日期：2020-12-29 00:00:00
abstract：:Using immunohistochemical techniques, we studied ligneous conjunctival lesions from two patients. A significant immune reaction was detected that was characterized by activated T lymphocytes and focal accumulation of plasma cells and B lymphocytes. Immunofluorescent studies demonstrated that IgG was a prominent compon...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(89)90216-x
更新日期：1989-02-15 00:00:00
abstract：:Ophthalmomyiasis interna caused severe intraocular inflammation and loss of vision in two eyes. In the first eye, the organism was found in the vitreous and created a severe uveitis; a second-stage larva of Hypoderma lineatum was later removed from the anterior chamber. Phthisis bulbi ensued with loss of all vision. I...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(84)90381-7
更新日期：1984-05-01 00:00:00
abstract：PURPOSE:To report a surgical procedure for excising subfoveal neovascular membranes and translocating the fovea in an attempt to maintain the function of the sensory retina to preserve central vision, based on the technique of macular relocation. METHODS:Three patients with subfoveal neovascular membranes underwent su...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70479-9
更新日期：1996-11-01 00:00:00
abstract：PURPOSE:To report the successful use of topical linezolid 0.2% in the treatment of gram-positive bacterial keratitis. STUDY DESIGN:Retrospective, interventional case series. METHODS:All cases of bacterial keratitis treated at the University of Illinois Eye and Ear Infirmary with topical linezolid were identified from...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2013.01.010
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:To report bilateral optic disk edema and blindness as the unusual initial presentation of acute lymphocytic leukemia (ALL) in an adult. METHODS:A 19-year-old man presented with a history of headaches, back pain, and 10 days of worsening vision that progressed to blindness. Ocular examination revealed light per...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01465-4
更新日期：2002-07-01 00:00:00
abstract：:Conjunctivodacryocystorhinostomy with a Jones tube is an accepted procedure for the treatment of epiphora resulting from obstructed canaliculi. Because of our clinical impression that a high rate of functional success after surgery is associated with a lower rate of patient satisfaction, we analyzed the results and pa...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70070-4
更新日期：1994-05-15 00:00:00
abstract：:During a two-year period a randomly selected age-stratified sample of subjects 65 years old and older living in Gisborne, New Zealand, was examined by an ophthalmologist to investigate visual acuity and the prevalence of the major disorders of vision in old age. A total of 481 subjects (a response rate of 86.2%) compl...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(82)90073-3
更新日期：1982-08-01 00:00:00
abstract：PURPOSE:To characterize perifoveal intraretinal cavities observed around full-thickness macular holes (MH) using en face optical coherence tomography and to establish correlations with histology of human and primate maculae. DESIGN:Retrospective nonconsecutive observational case series. METHODS:Macular en face scans ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2015.02.013
更新日期：2015-06-01 00:00:00
abstract：PURPOSE:To investigate the impact of Bruch membrane pathology on the choroid in pseudoxanthoma elasticum (PXE). DESIGN:Monocenter cross-sectional prospective case series. METHODS:The study included 61 eyes of 51 patients with PXE and 54 eyes of 54 normal subjects. The diagnosis of PXE was based on skin biopsy, geneti...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2014.04.005
更新日期：2014-07-01 00:00:00
