Abstract：
PURPOSE:Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. Affected individuals have ptosis and exotropic ophthalmoplegia, and their disease has been mapped to chromosome 11q13. Here, we describe the phenotypic findings in a similarly affected Yemenite family and analyze the family for linkage to the CFEOM2 locus, as well as to the autosomal dominant CFEOM1 and CFEOM3 loci on chromosomes 12cen and 16q24, respectively. METHODS:The family was ascertained through two affected daughters. There are four unaffected siblings, and the parents are consanguineous. Each family member was examined, and linkage analysis was performed using markers from the CFEOM1, CFEOM2, and CFEOM3 loci. RESULTS:Both affected daughters have congenital bilateral ophthalmoplegia. The 15-month-old proband has restrictive exotropia. She fixates with either eye in abduction and with a compensatory head turn to the opposite side. Her 4-year-old sister has a small exotropia and severely limited eye movements. All other family members have normal ophthalmologic examinations. Genetic analysis excluded linkage of the family's disease to the CFEOM2 and CFEOM3 loci. A lod score of 2.0 (the maximum possible, given the family size and structure), was obtained at the CFEOM1 locus, and the alleles reduced to homozygosity in both affected daughters and none of the other children. CONCLUSIONS:These data establish that there is genetic heterogeneity in autosomal recessive CFEOM and suggest that this second recessive locus may be allelic to the autosomal dominant CFEOM1 locus at 12cen.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Traboulsi EI,Lee BA,Mousawi A,Khamis AR,Engle ECdoi
10.1016/s0002-9394(99)00467-5subject
Has Abstractpub_date
2000-05-01 00:00:00pages
658-62issue
5eissn
0002-9394issn
1879-1891pii
S0002939499004675journal_volume
129pub_type
杂志文章abstract：PURPOSE:To evaluate the natural history and ophthalmologic morbidity of Mycoplasma pneumoniae-induced rash and mucositis (MIRM) and propose a treatment algorithm. DESIGN:Retrospective, interventional case series. METHODS:Retrospective chart review of all MIRM patients examined by the department of ophthalmology at a ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.06.010
更新日期：2020-11-01 00:00:00
abstract：:Nine patients with polyradiculomyeloneuropathy after acute hemorrhagic conjunctivitis (AHC) infection were studied serologically. All except one patient had neutralization titers larger than or equal to 1:16 against the prototype J670/71 strain of AHC virus in at least one of their serum samples. The development of a ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90279-2
更新日期：1975-11-01 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 assess the effect of verteporfin photodynamic therapy (PDT) in juxtafoveal choroidal neovascularization (CNV) secondary to pathologic myopia (PM). DESIGN:Prospective, open-label, consecutive, interventional case series. METHODS:We prospectively followed a series of 48 consecutive patients (49 eyes) with pa...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2006.11.037
更新日期：2007-03-01 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：:We analyzed the surgical results for 197 eyes that underwent vitrectomy for diabetic traction detachment of the macula. The retina was successfully reattached in 130 of the 197 cases (66%), although the final level of vision depended on the amount of permanent macular damage from the previous detachment and on the eff...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(83)90330-6
更新日期：1983-01-01 00:00:00
abstract：PURPOSE:To determine the optical coherence tomographic images that are commonly observed in eyes with choroidal osteoma (choroidal ossification). METHODS:Three patients with choroidal osteoma were examined by optical coherence tomography. RESULTS:We found two optical coherence tomographic patterns in the eyes with ch...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(00)00503-1
更新日期：2000-07-01 00:00:00
abstract：PURPOSE:To characterize spontaneous dislocation of the fluocinolone acetonide sustained release implant (Retisert; Bausch & Lomb) drug pellet from its strut. DESIGN:Retrospective, observational case series. METHODS:The medical records of 224 patients in whom 407 fluocinolone acetonide implants were placed by either o...
journal_title：American journal of ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.ajo.2015.01.031
更新日期：2015-05-01 00:00:00
abstract：PURPOSE:To report the clinical and histological findings of a luxated intraocular lens (IOL) in the capsular bag. METHODS:Review of a case. RESULTS:Twenty-three months after a triple procedure of vitrectomy, phacoemulsification, and IOL implantation for diabetic vitreous hemorrhage and cataract, the encapsulated IOL ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(00)00630-9
更新日期：2000-12-01 00:00:00
abstract：:We conducted a retrospective study of 107 penetrating keratoplasties in 99 eyes (99 patients) performed from 1970 to 1979 at the Wills Eye Hospital. The follow-up periods ranged from one to 12 years (median, three years). Overall, 86 of the 107 transplants (80%) remained clear and 63 eyes (59%) achieved good to excell...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(83)90384-7
更新日期：1983-05-01 00:00:00
abstract：PURPOSE:To determine the incidence of cystoid macular edema (CME) after cataract surgery among eyes with and without uveitis using optical coherence tomography (OCT) and to determine risk factors for postoperative CME among eyes with uveitis. DESIGN:Prospective, comparative cohort study. METHODS:Single-center, academ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2009.02.029
更新日期：2009-07-01 00:00:00
abstract：:The medical records of 13 patients with primary malignant lesions of the lacrimal gland revealed adenoid cystic carcinoma as the most common malignant tumor. The histologic cell type, neural invasion, and bony destruction were correlated with localized control and ultimate survival. Surgical removal of the lacrimal gl...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(75)90455-9
更新日期：1975-01-01 00:00:00
abstract：PURPOSE:To evaluate optical coherence tomography in allergy-prone uveitis patients. METHODS:Thirty-four patients (43 eyes) with posterior uveitis (31 eyes) and intermediate uveitis (12 eyes) were evaluated by fluorescein angiography, indocyanine green angiography, and optical coherence tomography. Follow-up examinatio...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(00)00586-9
更新日期：2000-11-01 00:00:00
abstract：:We noted two instances of forceps-induced fragmentation of the bar used for scleral plug storage during vitreous surgery. The silicone bar material was adherent to the plug in both cases. Because this represents a significant intraocular foreign body hazard, the scleral plug should be carefully inspected before insert...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(82)90542-6
更新日期：1982-03-01 00:00:00
abstract：PURPOSE:To characterize the locations, circumstances, and outcomes of falls in patients with varying degrees of glaucoma. DESIGN:Prospective cohort study. METHODS:Patients with suspected or diagnosed glaucoma completed monthly calendars reporting falls. After each fall, a 30-item questionnaire was administered to det...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2018.04.024
更新日期：2018-08-01 00:00:00
abstract：:We evaluated whether the rate of occurrence of glaucomatous disk damage in eyes with an optic disk hemorrhage differed from the rate of occurrence in control eyes. We compared 24 patients with a disk hemorrhage to 24 control patients, who had been matched for diagnosis, disk appearance, and visual fields. Cup volume a...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)74272-2
更新日期：1987-04-15 00:00:00
abstract：:A 73-year-old man developed conjunctivitis, epiphora, pancytopenia, dermatitis, and a polyclonal gammopathy. Diffuse infiltration and thickening of the conjunctiva and lacrimal canaliculi by plasma cells was present. Histopathologic examination suggested a reactive, chronic inflammatory response rather than neoplasia....
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/0002-9394(76)90499-2
更新日期：1976-09-01 00:00:00
abstract：PURPOSE:To evaluate the effectiveness of an orbital tissue expander designed to stimulate orbital bone growth in an anophthalmic socket. DESIGN:Retrospective, noncomparative, interventional case series. METHODS: SETTINGS:Institutional. STUDY POPULATION:Nine consecutive patients with unilateral congenital anophthalm...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2010.09.009
更新日期：2011-03-01 00:00:00
abstract：PURPOSE:To evaluate the percentage and risk indicators leading to retinal redetachment in HIV (human immunodeficiency virus) patients with CMV (cytomegalovirus) retinitis related retinal detachments that were repaired with silicone oil, and then subsequently underwent oil removal. DESIGN:Retrospective, noncomparative ...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.04.059
更新日期：2005-11-01 00:00:00
abstract：PURPOSE:To evaluate the complications associated with the primary placement of a motility coupling post (MCP) in spherical porous polyethylene (PP) implants at the time of enucleation. DESIGN:Retrospective, interventional case series. METHODS:The records of all patients who had undergone primary enucleation and spher...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2007.01.049
更新日期：2007-05-01 00:00:00
abstract：PURPOSE:This study sought to investigate retinal function in patients with noninfectious uveitis by using full-field electroretinography (ERG) and correlate the ERG to disease duration and severity of inflammation. DESIGN:Prospective cohort study. METHODS:Patients (n = 200) with noninfectious uveitis and a disease du...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2019.05.028
更新日期：2019-11-01 00:00:00
abstract：:Total outflow facility was determined in cynomolgus monkeys by two-level constant pressure perfusion. Topical epinephrine increased facility by 30% to 35% three to four hours after dosing, whether given as a single 600-micrograms dose or as twice daily 600-micrograms doses for three days. A single 5.5-micrograms intra...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)75985-9
更新日期：1990-02-15 00:00:00
abstract：PURPOSE:To document a branch retinal vein obstruction secondary to a congenital arteriovenous communication. METHOD:Case report of a young patient with retinal arteriovenous communication. RESULTS:A 12-year-old girl had a grade 2 retinal arteriovenous communication in her right eye. She was asymptomatic and was subse...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(98)00103-2
更新日期：1998-09-01 00:00:00
abstract：PURPOSE:To determine the natural history of asymptomatic, clinical rhegmatogenous retinal detachment. DESIGN:Single observer, prospective, consecutive, observational case series. METHODS:Consecutive patients were included who were referred to the author's clinical practice with rhegmatogenous retinal detachment exten...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2005.01.014
更新日期：2005-05-01 00:00:00
abstract：:A 61-year-old white woman, who had progressive arthritis over a two-year period, developed bilateral peripheral corneal degeneration. The superior cornea thinned to a thickness of approximately two thirds of normal. She died suddenly in the hospital and a primary occlusive vasculitis of the anterior ciliary arteries w...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(14)77721-9
更新日期：1978-03-01 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 investigate the effect of refractive astigmatism on all-distance visual acuity (VA) in eyes implanted with a diffractive trifocal or bifocal intraocular lens (IOL). DESIGN:Cross-sectional study. METHODS:Fifty eyes with trifocal IOLs (PanOptix; Alcon) and 50 eyes with bifocal IOLs (ReSTOR +3D) were enrolled...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2020.07.051
更新日期：2021-01-01 00:00:00
abstract：PURPOSE:To determine if optical coherence tomography (OCT) measurements of nerve fiber layer (NFL) thickness can be used to predict the presence of visual field defects (VFD) associated with glaucoma. DESIGN:Quota-sampled, cross-sectional study. METHODS:Retrospective study of OCT NFL thickness measurements in 276 eye...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/s0002-9394(02)01683-5
更新日期：2002-10-01 00:00:00
abstract：PURPOSE:To identify which presenting features of rhegmatogenous retinal detachment (RRD) suggest the presence of multiple retinal breaks and to ascertain relevant patterns in retinal break location. DESIGN:Observational single-center case series. METHODS:We collected data from 851 eyes undergoing surgery for RRD betw...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2013.09.011
更新日期：2014-01-01 00:00:00
abstract：PURPOSE:To study the glistening formation in various hydrophobic-acrylic intraocular lens (IOL) models, and to evaluate the effect of glistenings on light scattering in these IOLs. DESIGN:Laboratory investigation. METHODS:The susceptibility of the hydrophobic-acrylic material to develop glistenings was evaluated in 6...
journal_title：American journal of ophthalmology
pub_type： 杂志文章
doi：10.1016/j.ajo.2018.08.032
更新日期：2018-12-01 00:00:00
