Abstract：
PURPOSE:To investigate the genetic findings and phenotypic characters of autosomal dominant optic atrophy (ADOA). DESIGN:Case report and experimental study. METHODS:Molecular genetic analysis and clinical examinations were performed in a Chinese family with ADOA. Mutations in OPA1 were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. RESULTS:Nine family members were diagnosed with ADOA and some of them were accompanied with hearing loss and/or high myopia. A novel heterozygous mutation, c.2848_2849delGA(p.Asp950CysfsX4), was detected in all ADOA patients. The mutation and the mutation bearing haplotype cosegregated with the nine affected members. One family member had high myopia without vision or hearing loss. This patient along with unaffected ones did not harbor the mutation. CONCLUSIONS:A novel mutation, c.2848_2849delGA in OPA1, was identified in a Chinese family with ADOA. This mutation is associated with hearing loss, but likely not high myopia.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Chen S,Zhang Y,Wang Y,Li W,Huang S,Chu X,Wang L,Zhang M,Liu Zdoi
10.1016/j.ajo.2006.06.049subject
Has Abstractpub_date
2007-01-01 00:00:00pages
186-188issue
1eissn
0002-9394issn
1879-1891pii
S0002-9394(06)00774-4journal_volume
143pub_type
杂志文章abstract：PURPOSE:To provide evidence that corticosteroid-induced ocular hypertension has a genetic component. DESIGN:Evidence-based perspective. METHODS:We conducted a comprehensive literature search for studies exploring genetic influences on intraocular pressure responses to corticosteroid treatment. RESULTS:Studies demons...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.ajo.2019.02.001
更新日期：2019-06-01 00:00:00
abstract：PURPOSE:To demonstrate techniques of iris reconstruction (pupilloplasty) at the time of penetrating keratoplasty (PKP) for a variety of pupil abnormalities, and to evaluate the effect of pupilloplasty on graft survival and visual outcome. DESIGN:Case-control study. METHODS:Thirty-five cases (combined PKP and pupillop...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2007.10.006
更新日期：2008-02-01 00:00:00
abstract：PURPOSE:To report a case of persistent polymicrobial postoperative endophthalmitis caused by Alcaligenes xylosoxidans and Propionibacterium acnes in a pseudophakic eye. A. xylosoxidans is a gram-negative bacteria resistant to most antibiotics. METHODS:Case report. RESULTS:A 72-year-old man presented with clinical sig...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(00)00405-0
更新日期：2000-06-01 00:00:00
abstract：:Extraocular bacterial culture was performed in 100 patients with hypovitaminosis A xerophthalmia. There was corneal ulceration in 29 cases and corneal perforation in 22 cases. Eighty-six percent of the patients harbored frankly pathogenic bacteria (46 patients) and potentially pathogenic bacteria (40 patients). All bu...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90399-2
更新日期：1975-10-01 00:00:00
abstract：PURPOSE:To determine if topical dorzolamide, as observed with the use of systemic acetazolamide and methazolamide, would be effective in treating cystoid macular edema (CME) in patients with retinitis pigmentosa (RP). DESIGN:Prospective, nonrandomized clinical trial. METHODS:setting: Institutional. patients: Fifteen ...
journal_title：American journal of ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1016/j.ajo.2005.12.030
更新日期：2006-05-01 00:00:00
abstract：PURPOSE:To report refractive changes after cataract surgery and intraocular lens implantation in infants and children. METHODS:In an ongoing prospective study, the refractive errors of all patients younger than 18 years undergoing intraocular lens implantation were determined at 6 weeks, 3 months, 6 months, and 1 year...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(98)00247-5
更新日期：1998-12-01 00:00:00
abstract：PURPOSE:To evaluate the characteristics of rhegmatogenous retinal detachment (RD) in patients with previous laser in situ keratomileusis (LASIK) and compare them to RD in patients with previous laser assisted subepithelial keratomileusis (LASEK) and myopic patients with no previous refractive surgery. DESIGN:Retrospec...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2013.12.004
更新日期：2014-03-01 00:00:00
abstract：:Total retinal detachment and neovascular glaucoma occurred after a penetrating injury to the left globe that left the eye blind and painful. A retrobulbar injection of alcohol and enucleation modified but did not relieve the orbital discomfort. At surgery, we discovered a neuroma with cartilaginous metaplasia involvin...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75139-6
更新日期：1980-11-01 00:00:00
abstract：:Of a series of 57 formerly amblyopic patients who attained equal visual acuities (20/20 or better in each eye), only 29 were able to alternate after treatment. The oldest patient was 5 years old. The pattern visual-evoked response of the previously amblyopic eye in nonalternators showed a reduced amplitude as compared...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75868-4
更新日期：1985-01-15 00:00:00
abstract：PURPOSE:To report the response of calcification in choroidal melanoma after transpupillary thermotherapy. METHODS:Interventional case report. A 66-year-old male with a posterior uveal melanoma measuring 10 x 8 x 4.4 mm underwent infrared diode laser transpupillary thermotherapy three times, each 12 weeks apart. For ea...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(01)01186-2
更新日期：2001-12-01 00:00:00
abstract：PURPOSE:To evaluate the behavior and attitudes among ophthalmology trainees toward pharmaceutical promotions. DESIGN:Questionnaire survey. METHODS:A questionnaire on behavior and attitudes toward interactions with pharmaceutical representatives was distributed to 110 ophthalmology residency programs in the United Sta...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2009.05.011
更新日期：2009-10-01 00:00:00
abstract：PURPOSE:To perform a cross-sectional study on the distribution of central corneal thickness and its association with intraocular pressure in an elderly population. METHODS:We measured central corneal thickness and intraocular pressure in 395 subjects (352 control subjects, 13 patients with ocular hypertension, and 30 ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)71125-0
更新日期：1997-06-01 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：:A 34-year-old man had a six-month history of bilateral visual loss that was secondary to cystoid macular edema, which was assumed to be secondary to neurosyphilis on the basis of cerebrospinal fluid serology, cell count, and protein. Good visual acuity was recovered with systemic corticosteroids only after they were u...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(79)90747-5
更新日期：1979-07-01 00:00:00
abstract：PURPOSE:To detect the prognostic factors associated with initial reattachment after primary pars plana vitrectomy (PPV) with gas tamponade for retinal detachment attributable to macular hole (MHRD). DESIGN:Retrospective, multicenter, interventional case series. METHODS:This study included 49 eyes of 48 patients with ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2008.04.022
更新日期：2008-08-01 00:00:00
abstract：PURPOSE:To report two cases of acute exudative polymorphous vitelliform maculopathy. DESIGN:Observational case reports. METHODS:Fluorescein angiography, optical coherence tomography, and electrophysiology were performed. RESULTS:Both patients presented with sudden onset of blurred vision and bilaterally symmetric, c...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(03)00426-4
更新日期：2003-10-01 00:00:00
abstract：PURPOSE:To determine a possible correlation specifically between hemoglobin A1C (HgbA1C) levels and the presence and severity of retinopathy during diabetic eye screening. DESIGN:Retrospective medical record review of all new patients examined in a Veteran Affairs Medical Center (VAMC) diabetic screening clinic in 200...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2007.04.008
更新日期：2007-09-01 00:00:00
abstract：PURPOSE:To analyze the indocyanine green angiographic findings of drusen in the early stages of age-related macular degeneration. METHODS:Sixty-nine eyes of 53 consecutive patients with drusen but without exudative complications of age-related macular degeneration were studied. Drusen were classified into four groups:...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)70826-8
更新日期：1997-09-01 00:00:00
abstract：PURPOSE:To assess the results of iris suture fixation of subluxated intraocular lenses. DESIGN:Retrospective study. METHODS:This was a nonrandomized chart review of eyes with subluxated intraocular lenses that underwent iris suture fixation at an academic institutional care center. Seventy-two eyes of 67 consecutive ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2014.11.009
更新日期：2015-02-01 00:00:00
abstract：PURPOSE:To evaluate clinically a recently developed confocal scanning laser ophthalmoscope for simultaneous fluorescein and indocyanine green angiography. METHODS:After comprehensive ophthalmic examination, including stereoscopic biomicroscopy, and after color fundus photographs, simultaneous confocal scanning laser f...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)80095-6
更新日期：1998-02-01 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 investigate the effect of yellow-tinted intraocular lenses (IOLs) on short-wavelength automated perimetry (SWAP). DESIGN:Cross-sectional observation study. METHODS:Twenty-two patients who had implantation of yellow-tinted IOLs (AcrySof SN60AT or SN60WF; Alcon Laboratories) in 1 eye and nontinted IOLs (Acry...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.02.023
更新日期：2010-08-01 00:00:00
abstract：PURPOSE:To assess the safety of VR 3D headset (virtual reality 3-dimensional binocular-stereoscopic near-eye display) use in young children. Product safety warnings that accompany VR headsets ban their use in children under age 13 years. DESIGN:Prospective, interventional, before-and-after study. METHODS:Recordings w...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2019.07.020
更新日期：2020-01-01 00:00:00
abstract：PURPOSE:To evaluate serum levels of triamcinolone acetonide after intravitreal high-dose injection. DESIGN:Prospective, interventional case series study. METHODS:For 20 consecutive patients, venous blood samples were taken before and 13 +/- 19 days (range 4 to 92) after an intravitreal injection of 20 to 25 mg triamc...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2004.01.008
更新日期：2004-06-01 00:00:00
abstract：PURPOSE:To describe the genetic and phenotypic characteristics of a cohort of patients with PROM1 variants. DESIGN:Case-case study. METHODS:We screened a cohort of 2216 families with inherited retinal dystrophies using classical molecular techniques and next-generation sequencing approaches. The clinical histories of...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2019.05.014
更新日期：2019-11-01 00:00:00
abstract：PURPOSE:To describe changes in the acquired immunodeficiency syndrome (AIDS) epidemic that are important to ophthalmologists, to provide an overview of issues relevant to current evaluation and treatment of human immunodeficiency virus (HIV)-related eye disease, and to identify problems related to the eye and vision th...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,评审
doi：10.1016/j.ajo.2007.12.001
更新日期：2008-03-01 00:00:00
abstract：PURPOSE:To describe the pre-exudative stage of exudative perifoveal vascular anomalous complex (ePVAC), referred to as nonexudative PVAC (nePVAC). DESIGN:Retrospective noncomparative case series. METHODS:Patients diagnosed with nePVAC were identified at 4 retina referral centers worldwide. Multimodal retinal imaging,...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2020.04.025
更新日期：2020-10-01 00:00:00
abstract：PURPOSE:To determine whether hypothermia of 8 degrees C can protect cultured human retinal pigment epithelial (ARPE-19) cells and rat retinal ganglion cells (RGC-5) against trypan blue (TB) toxicity. DESIGN:Laboratory investigation. METHODS:ARPE-19 cells and RGC-5 were exposed to balanced salt solution as controls, a...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.10.054
更新日期：2006-04-01 00:00:00
abstract：PURPOSE:To test the hypothesis that neovascular age-related macular degeneration is related to oxidative stress involving the macular retinal pigment epithelium. This study investigated, as a function of age, levels of enzymes that defend tissues against oxidative stress in the macular retinal pigment epithelium of hum...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(99)00032-x
更新日期：1999-06-01 00:00:00
abstract：PURPOSE:To provide an overview of angiogenesis and vascular endothelial growth factor (VEGF) and discusses the development approach, safety, and efficacy results of current and emerging anti-VEGF therapies for ocular diseases. DESIGN:Analysis of literature and current clinical trials of antiangiogenic agents for age-r...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2006.05.061
更新日期：2006-10-01 00:00:00
