Abstract:
PURPOSE:Age-related macular degeneration (AMD) is a complex genetic disorder and the leading cause of severe vision loss in the elderly. The Stargardt disease gene (ABCR) has been proposed as a major genetic risk factor in AMD. The purpose of this study was to evaluate the authors' AMD population for the specific ABCR variants proposed previously as genetic risk factors for AMD. METHODS:The authors screened their AMD population (159 familial cases from 112 multiplex families and 53 sporadic cases) and 56 racially matched individuals with no known history of AMD from the same clinic population for evidence of the ABCR variants. Grading of disease severity was performed according to a standard protocol. Patients with extensive intermediate drusen or large soft drusen, drusenoid retinal pigment epithelial (RPE) detachments, geographic atrophy of the RPE, or evidence of exudative maculopathy were considered affected. Analysis for variants was performed by polymerase chain reaction amplification of individual exons of the ABCR gene with flanking primers and a combination of single-strand conformation polymorphism, heteroduplex analysis, and high-performance liquid chromatography. All abnormal conformers detected using these techniques were characterized by direct sequencing. RESULTS:The authors identified only two of the previously reported variants in their study population. Both variants occurred in sporadic cases, and none was found in familial cases or the randomly selected population. In addition, the authors identified several newly described polymorphisms and variants in both the AMD and control populations. CONCLUSIONS:Based on these initial findings, the authors suggest that ABCR is not a major genetic risk factor for AMD in their study population. Additional genetic studies are needed to more fully evaluate the role of ABCR in AMD.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
De La Paz MA,Guy VK,Abou-Donia S,Heinis R,Bracken B,Vance JM,Gilbert JR,Gass JD,Haines JL,Pericak-Vance MAdoi
10.1016/S0161-6420(99)90449-9subject
Has Abstractpub_date
1999-08-01 00:00:00pages
1531-6issue
8eissn
0161-6420issn
1549-4713pii
S0161-6420(99)90449-9journal_volume
106pub_type
临床试验,杂志文章,随机对照试验相关文献
OPHTHALMOLOGY文献大全abstract::Complications associated with rigid contact lenses are more frequent in aphakia. The limited dexterity of older patients not only may prove an insurmountable barrier to the mastery of daily contact lens insertion and removal, but also may produce significant direct eye trauma, its seriousness determined by the integri...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(79)35431-8
更新日期:1979-06-01 00:00:00
abstract::In 2019, the American Academy of Ophthalmology (AAO) created the Task Force on Myopia in recognition of the substantial global increases in myopia prevalence and its associated complications. The Task Force, led by Richard L. Abbott, MD, and Donald Tan, MD, comprised recognized experts in myopia prevention and treatme...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2020.10.040
更新日期:2020-12-30 00:00:00
abstract::The authors analyzed the clinical and follow-up data on 277 selected patients with primary choroidal or ciliochoroidal melanoma who were treated with 60Co plaque radiotherapy between 1976 and 1982. Local recurrence of the irradiated melanoma developed in 39 (14%) patients during the follow-up interval. The 5-year tumo...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(89)32882-x
更新日期:1989-03-01 00:00:00
abstract:PURPOSE:Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. Approximately 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have been reported in only 2 pedigrees with DO...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2010.07.029
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:The authors prospectively studied visual outcome, relapse, complications, and survival of patients with acquired immune deficiency syndrome (AIDS)-related cytomegalovirus (CMV) treated with high-dose intravitreous ganciclovir (2 mg/0.1 ml) injections. The outcomes were compared with those of patients treated ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(98)98020-4
更新日期:1998-08-01 00:00:00
abstract::A 38-year-old male homosexual with the new Acquired Immunodeficiency Syndrome (AIDS) had biopsy proven Kaposi's sarcoma of the right palpebral conjunctiva, extraocular mucocutaneous areas, and lymph nodes. Histologically, the palpebral tumor was characterized by atypical spindle cell proliferation and multiple slit-li...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(83)80011-6
更新日期:1983-08-01 00:00:00
abstract:BACKGROUND:To investigate the potential contribution of inflammatory and immune-mediated processes contributing to the pathogenesis of proliferative vitreoretinopathy (PVR), an immunohistochemical study was undertaken to characterize the infiltrating inflammatory cells in epiretinal membranes surgically removed from th...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(92)31793-2
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVE:To document the long-term experience with hydroxyapatite (HA) orbital implants (Bio-Eye) and analyze the factors influencing implant exposure, including surgical type, procedural modification, use of different wrapping materials and peg materials. DESIGN:Retrospective observational case series. PARTICIPANTS...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2007.06.014
更新日期:2008-03-01 00:00:00
abstract:PURPOSE:To investigate differences in clinical characteristics and genotype distribution in Japanese patients with age-related macular degeneration (AMD) and pseudodrusen using multimodal imaging. DESIGN:Retrospective, observational case series. PARTICIPANTS:A total of 101 patients (101 eyes) with AMD and pseudodruse...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2016.06.052
更新日期:2016-10-01 00:00:00
abstract::Granulomatous uveitis has infrequently been described as a manifestation of the autoimmune phenomena of multiple sclerosis (MS). The authors describe six cases of anterior granulomatous uveitis in patients with MS. All six patients had features of iridocyclitis and three patients had features of periphlebitis, which w...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(91)32324-8
更新日期:1991-02-01 00:00:00
abstract:PURPOSE:To estimate retinal ganglion cell (RGC) losses associated with the earliest development of visual field defects in glaucoma. DESIGN:Observational cohort study. PARTICIPANTS:The study group included 53 eyes of 53 patients with suspected glaucoma who were followed as part of the Diagnostic Innovations in Glauco...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ophtha.2012.09.039
更新日期:2013-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the accuracy of computerized videokeratography, keratometry, and the Gaussian optics formula for measuring corneal refractive power in patients after myopic laser in situ keratomileusis (LASIK). DESIGN:Noncomparative case series. PARTICIPANTS:One hundred eyes of 63 patients (mean age, 45.0 +/- 1...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(01)01001-6
更新日期:2002-04-01 00:00:00
abstract:PURPOSE:To evaluate the clinical outcomes after implantation of the MyoRing (DIOPTEX GmBH, Linz, Austria) by means of femtosecond laser technology in eyes with corneal ectasia. DESIGN:Retrospective, consecutive, nonrandomized, case series. PARTICIPANTS:A total of 12 eyes of 11 patients with ages ranging from 17 to 50...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2010.12.012
更新日期:2011-07-01 00:00:00
abstract::Ten patients with prolactin-secreting pituitary adenomas (prolactinoma) and visual dysfunction were treated primarily with bromocriptine. Nine patients had improvement of visual field or acuity associated with computed tomography (CT) evidence of a decrease in tumor size and reduction of serum prolactin level (SPL). V...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(85)33853-8
更新日期:1985-10-01 00:00:00
abstract:PURPOSE:Indocyanine green (ICG) angiography may improve visualization of choroidal neovascularization (CNV) associated with serous retinal pigment epithelial detachment (RPED) in age-related macular degeneration (AMD). The features of ICG hyperfluorescence associated with serous RPED and therapeutic effect of ICG-direc...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(97)30236-x
更新日期:1997-05-01 00:00:00
abstract:PURPOSE:To analyze visual acuity (VA) outcomes before and after preplanned treatment regimen change in the VIEW studies at week 52 (W52). DESIGN:Multiple post hoc analyses for retrospectively defined subgroups in 2 multicenter, multinational, double-masked trials. PARTICIPANTS:Two thousand four hundred fifty-seven ne...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.ophtha.2015.08.014
更新日期:2015-12-01 00:00:00
abstract:PURPOSE:We studied the 3-year efficacy and safety results of a 4-year study evaluating fluocinolone acetonide (FA) intravitreal implants in eyes with persistent or recurrent diabetic macular edema (DME). DESIGN:Prospective, evaluator-masked, controlled, multicenter clinical trial. PARTICIPANTS:We included 196 eyes wi...
journal_title:Ophthalmology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.ophtha.2011.02.048
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVE:To determine the most appropriate method for measuring the effect on contrast sensitivity of neodymium:YAG (Nd:YAG) posterior capsulotomy for early posterior capsular opacification (PCO). DESIGN:Prospective comparison of five different methods for luminous contrast sensitivity testing in patients undergoing ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/S0161-6420(99)90154-9
更新日期:1999-04-01 00:00:00
abstract::A 29-year-old woman presented with marked variations in refraction. A few minutes of physical exertion or reading at a close distance induced up to 2D of myopia and 2D of myopic astigmatism, which regressed upon resting with closed eyes. Cycloplegic agents did not affect the refractive changes, which were shown to be ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(84)34314-7
更新日期:1984-02-01 00:00:00
abstract:PURPOSE:To evaluate and compare the structural differences of the ciliary body in eyes with and without malignant glaucoma. DESIGN:Cross-sectional study. PARTICIPANTS:Twenty-seven consecutive patients diagnosed with malignant glaucoma in 1 eye after trabeculectomy were recruited. They were all originally diagnosed wi...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2013.10.035
更新日期:2014-04-01 00:00:00
abstract::A review was undertaken of nine eyes of nine patients who suffered tightly bound dense premacular hemorrhage as a complication of proliferative diabetic retinopathy. Patients who did not receive vitrectomy within four weeks of the onset of the hemorrhage all progressed to late macular traction and visual acuity no bet...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(85)34014-9
更新日期:1985-04-01 00:00:00
abstract::Five hundred forty-seven reports of adverse reactions to timolol maleate received by the National Registry for Drug-induced Ocular Side Effects during an eleven-month period were reviewed. Approximately half the reports concerned systemic reactions affecting the cardiac, pulmonary, central nervous, gastrointestinal, a...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(80)35215-9
更新日期:1980-05-01 00:00:00
abstract:PURPOSE:To investigate the effect of posterior chamber intraocular lens (PC IOL) size and construction on the capsular bag in human cadaver eyes. METHODS:Studies were done at two timeframes: (1) short term (prospective)--the effect of 12 different IOLs on the capsular bag configuration after experimental implantation;...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(95)30897-4
更新日期:1995-08-01 00:00:00
abstract:PURPOSE:To establish the thresholds for "real change" in stereoacuity by defining long-term test-retest variability as 95% limits of agreement for 4 stereoacuity tests. DESIGN:Retrospective cohort study. PARTICIPANTS AND CONTROLS:We identified 36 patients (median, 17 years; range, 7-76) with any type of stable strabi...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2008.09.012
更新日期:2009-02-01 00:00:00
abstract::The purpose of this follow-up study is to measure the association between corneal allograft reactions and donor-recipient HLA-A and HLA-B compatibility. Four hundred thirty-eight consecutive adult recipients of corneal grafts with known donor-recipient HLA matching were observed for allograft reactions and failures. M...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(90)32360-6
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Orbital extraocular extension of choroidal melanoma is well known and is usually detected in eyes with medium and large tumors, but it is very rare with small melanomas. It is particularly unusual for choroidal melanomas of any size to invade the optic nerve or its meninges. DESIGN:Two case reports. PARTIC...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/S0161-6420(99)00723-X
更新日期:1999-07-01 00:00:00
abstract:PURPOSE:To understand the impact of deep learning diabetic retinopathy (DR) algorithms on physician readers in computer-assisted settings. DESIGN:Evaluation of diagnostic technology. PARTICIPANTS:One thousand seven hundred ninety-six retinal fundus images from 1612 diabetic patients. METHODS:Ten ophthalmologists (5 ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2018.11.016
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To investigate systematically the natural history of visual outcome in nonarteritic anterior ischemic optic neuropathy (NAION). DESIGN:Cohort study. PARTICIPANTS:Three hundred forty consecutive untreated patients (386 eyes) with NAION, first seen in our clinic from 1973 to 2000. METHODS:At first visit, all...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2007.05.027
更新日期:2008-02-01 00:00:00
abstract:PURPOSE:The authors studied the coagulation cascade and fibrinolysis pathway in patients with untreated glaucoma (P = 0.00001 and P = 0.0003, respectively) and patients with normal pressure glaucoma ([NPG] P = 0.00001 and P = 0.03, respectively). METHODS:Forty-two untreated patients with NPG, 25 untreated patients wit...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(97)30245-0
更新日期:1997-04-01 00:00:00
abstract::An integrated ophthalmic office computer system is now functional at five sites. The system automates clerical functions such as appointment scheduling, billing, and preparation of doctors' schedules and insurance forms. It eliminates the need for filing and storage of records. The medical system records the history a...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(81)35060-x
更新日期:1981-02-01 00:00:00