Abstract:
BACKGROUND:To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy characterized by associated ocular developmental abnormalities. DESIGN:Family genetic study. PARTICIPANTS:A total of 23 members, both affected and unaffected, of 1 kindred with vitreoretinopathy. METHOD:Individuals within the kindred were examined clinically and blood samples taken for DNA analysis. Genetic analysis was performed for the proximal region of chromosome 5q by means of polymerase chain reaction (PCR). MAIN OUTCOME MEASURES:Detection of vitreoretinopathy and associated abnormalities. RESULTS:This novel, hereditary vitreoretinopathy, showing the classic features of vitreous pathology and early-onset retinal detachments, was associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous. There were no associated systemic features. Genetic mapping with markers from the proximal region of 5q13-q14 showed linkage to a 5-cM region between the markers D5S626 and D5S2103. CONCLUSIONS:The 5-cM region is within that implicated in the etiology of both Wagner and erosive vitreoretinopathies. This suggests that this novel condition may be allelic, refines the genetic mapping for vitreoretinopathies that map to 5q13-q14, and implicates a gene important not only in vitreous production but also in early ocular development.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
Black GC,Perveen R,Wiszniewski W,Dodd CL,Donnai D,McLeod Ddoi
10.1016/S0161-6420(99)90486-4subject
Has Abstractpub_date
1999-11-01 00:00:00pages
2074-81issue
11eissn
0161-6420issn
1549-4713pii
S0161-6420(99)90486-4journal_volume
106pub_type
杂志文章相关文献
OPHTHALMOLOGY文献大全abstract:OBJECTIVE:To characterize the clinical features of ocular Whipple's disease (WD) and determine the long-term prognosis after antibiotic treatment. DESIGN:Retrospective case series. PARTICIPANTS:Medical records of patients referred between January 1993 and December 2010 were reviewed for chronic corticosteroid-resista...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2012.01.024
更新日期:2012-07-01 00:00:00
abstract::Acyclovir, an oral antiviral agent that inhibits viral DNA replication, was used to treat 27 patients (16 males, 11 females) (mean age, 50 years) with vision-threatening herpes simplex virus (HSV) infections. Twenty patients had active stromal keratitis or keratouveitis, four had controlled nonnecrotizing stromal kera...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(88)33156-8
更新日期:1988-04-01 00:00:00
abstract:OBJECTIVE:To report the clinical and pathologic features of sarcomatous transformation of the skull with involvement of the orbit, in Paget's disease. DESIGN:Interventional case report. PARTICIPANT:An 83-year-old woman with Paget's disease who experienced progressive proptosis of the left eye. INTERVENTION:Fine-need...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(00)00180-9
更新日期:2000-08-01 00:00:00
abstract:PURPOSE:To document outer retinal tubulation (ORT) formation in advanced retinal disorders. DESIGN:Retrospective, observational study. PARTICIPANTS:Consecutive cases with retinal diseases showing outer retinal disruption and atrophy of the retinal pigment epithelium (RPE) associated with ORT on spectral-domain (SD) o...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2017.03.043
更新日期:2017-09-01 00:00:00
abstract:PURPOSE:To determine the incidence and types of posterior staphylomas in eyes with pathologic myopia by analyzing the entire eye shape by 3-dimensional (3D) magnetic resonance imaging (MRI). DESIGN:Observational, case series. PARTICIPANTS:A total of 105 patients with pathologic myopia (spherical equivalent <-8.0 diop...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2014.03.035
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:To develop a clinical classification system for age-related macular degeneration (AMD). DESIGN:Evidence-based investigation, using a modified Delphi process. PARTICIPANTS:Twenty-six AMD experts, 1 neuro-ophthalmologist, 2 committee chairmen, and 1 methodologist. METHODS:Each committee member completed an o...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2012.10.036
更新日期:2013-04-01 00:00:00
abstract:PURPOSE:To determine whether intravitreal triamcinolone acetonide (IVTA) improves the efficacy of photodynamic therapy (PDT) with verteporfin in predominantly classic subfoveal choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD). DESIGN:Prospective randomized study. PARTICIPANTS:Six...
journal_title:Ophthalmology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ophtha.2006.04.039
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Non-Hodgkin lymphoma is more common in patients with the acquired immune deficiency syndrome (AIDS), and the incidence of non-Hodgkin lymphoma in the AIDS population has been increasing as the life expectancy of these patients has increased. Nevertheless, intraocular lymphoma, as part of primary central nerv...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(94)31248-6
更新日期:1994-05-01 00:00:00
abstract:PURPOSE:To evaluate the diagnostic capability of optical coherence tomography (Stratus OCT 3) for early glaucoma in Asian Indian eyes. DESIGN:Cross-sectional observational study. PARTICIPANTS:Two groups of patients (early glaucoma and normal) who satisfied the inclusion and exclusion criteria were included. Early gla...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2007.03.005
更新日期:2007-12-01 00:00:00
abstract:PURPOSE:To design and validate a software package to quantitate the area subtended by drusen in color fundus photographs for the conduct of efficient, accurate clinical trials in age-related macular degeneration. DESIGN:Algorithm and software development. Comparisons with manual methodologies. PARTICIPANTS:Evaluation...
journal_title:Ophthalmology
pub_type: 临床试验,杂志文章
doi:10.1016/S0161-6420(99)90257-9
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:To describe a cohort of patients with pars planitis followed at a single tertiary care institution, determine the frequency of multiple sclerosis and/or optic neuritis in patients with this disorder, and calculate gene frequencies of human leukocyte antigen (HLA) class II alleles in these patients. DESIGN:Fi...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/S0161-6420(99)90122-7
更新日期:1999-03-01 00:00:00
abstract::A study group of eight patients with diabetic retinopathy and marked accumulation of hard exudates in the fundi is described. There was a significant increase in serum triglyceride levels (P less than 0.05) in the study group as compared to a control group of 23 consecutive patients with diabetic retinopathy. This exu...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(84)34098-2
更新日期:1984-12-01 00:00:00
abstract:PURPOSE:To obtain objective measurements of corneal light scattering after excimer laser keratectomy, and to evaluate the relation of light scattering to clinical haze grading and visual acuity. METHODS:The authors measured best-corrected visual acuity, subjective clinical haze grade, and corneal light-scattering inde...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(96)30674-x
更新日期:1996-03-01 00:00:00
abstract:PURPOSE:To report the 4-year outcomes of corneal cross-linking (CXL) for progressive keratoconus in a population of different age groups. DESIGN:Retrospective, single-center, nonrandomized clinical study. PARTICIPANTS:Four hundred consecutive eyes treated with corneal CXL for progressive keratoconus from April 2006 t...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2012.10.023
更新日期:2013-05-01 00:00:00
abstract::The authors have reviewed the clinical presentation, visual fields, color vision testing, visual-evoked potentials, and computed tomographic (CT) findings of 58 patients (95 eyes) with dysthyroid optic neuropathy. The authors compared these findings to a control group of 60 patients (119 eyes) with thyroid eye disease...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(88)32978-7
更新日期:1988-11-01 00:00:00
abstract:PURPOSE:To investigate the relationship between the degree of posterior bowing of the lamina cribrosa (LC) at baseline and the rate of subsequent visual field (VF) progression in eyes with primary open-angle glaucoma (POAG). DESIGN:Prospective, observational study. PARTICIPANTS:One hundred one early-stage (VF mean de...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2018.05.017
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVE:To investigate the multifocal electroretinogram (mfERG) in myopic children in relation to the rate of myopia progression. DESIGN:Observational study. PARTICIPANTS:Eighty-one school children with myopia. METHODS:Cycloplegic refraction, ocular biometry, and mfERG recordings were performed in myopic children ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2006.11.030
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:This study aimed to examine the characteristics of intraretinal changes associated with macular holes and epiretinal membranes by scanning retinal thickness analysis. STUDY DESIGN:The study design was a nonconsecutive case series. PATIENTS:Fifty-six eyes of patients who had either a suspected or clinically ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(98)91274-x
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:To investigate the long-term surgical outcome of Brown syndrome using an intraoperative adjustable superior oblique (SO) tendon suture spacer. DESIGN:Retrospective case series. PARTICIPANTS:Thirteen patients with congenital unilateral Brown syndrome operated on at the Wolfe Eye Clinic from 2001 through 2007...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2008.04.007
更新日期:2008-10-01 00:00:00
abstract::The authors examined 11 young adult, moderately myopic female patients who presented with visual loss secondary to a newly described disorder consisting of multiple small discrete lesions at the level of the retinal pigment epithelium and choriocapillaris. The condition appears to be inflammatory and occurs primarily ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(86)33611-x
更新日期:1986-09-01 00:00:00
abstract:OBJECTIVE:To report 3 patients with type I osteogenesis imperfecta (OI) who developed retinal hemorrhages and subdural hematomas after minor trauma. DESIGN:Observational case series. METHOD:Children with OI who developed retinal hemorrhages after minor trauma were identified through an international e-mail-based mail...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2003.10.028
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:A retrospective study was undertaken to evaluate long-term anatomic and visual outcomes in eyes of children who underwent bilateral intraocular lens implantation. DESIGN:The study design was a review of medical records of 24 children operated on for bilateral cataracts and posterior chamber-intraocular lense...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(97)30033-5
更新日期:1997-11-01 00:00:00
abstract:OBJECTIVE:To present the first reported case of cataract formation as a consequence of instillation of pilocarpine in an eye with a posterior chamber phakic intraocular lens (IOL). DESIGN:Interventional case report. INTERVENTION:A 46-year-old man received a hyperopic implantable collamer lens (ICL) bilaterally. MAIN...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2006.03.053
更新日期:2006-08-01 00:00:00
abstract::Data from the United States Consumer Product Safety Commission indicate that air-powered guns were responsible for 22,800 injuries treated in emergency rooms during 1981, of which 1255 were eye injuries. From 1970 to 1981, 32 patients have undergone surgical intervention at the Wilmer Eye Institute for airgun-related ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(84)34159-8
更新日期:1984-10-01 00:00:00
abstract:PURPOSE:To estimate payments for glaucoma care among Medicare beneficiaries from 2002 to 2009. DESIGN:Database study. PARTICIPANTS:Data from a 5% random sample of Medicare billing information from 2002 to 2009. METHODS:Medicare beneficiaries, aged 65 years or older, with both Parts A and B fee-for-service (FFS) enro...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2013.04.027
更新日期:2013-11-01 00:00:00
abstract::Two cynomolgous monkeys were exposed to the light of an operating microscope. One eye was exposed to the light with the blue end of the spectrum filtered, while the other was exposed to unfiltered light. Neither group of eyes showed ophthalmoscopic evidence of a discrete retinal lesion. The eyes exposed to unfiltered ...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(83)80024-4
更新日期:1983-08-01 00:00:00
abstract:PURPOSE:Cataract and glaucoma commonly coexist in elderly patients and present complex treatment options. This study investigates the results of simultaneous treatment of both conditions using phacoemulsification with posterior chamber lens implant and mitomycin-augmented trabeculectomy (combined surgery). METHODS:A r...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/s0161-6420(96)30571-x
更新日期:1996-07-01 00:00:00
abstract:OBJECTIVE:To investigate the impact of resident participation in cataract surgery on operative time and cost. DESIGN:Retrospective chart review. PARTICIPANTS:All patients who underwent phacoemulsification cataract surgery by an attending or resident surgeon of the Penn State Hershey Eye Center between July 1, 2004, a...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2011.06.026
更新日期:2012-01-01 00:00:00
abstract:PURPOSE:To determine whether scatter and grid laser photocoagulation (laser) adds benefit to ranibizumab injections in patients with macular edema from retinal vein occlusion (RVO) and to compare 0.5-mg with 2.0-mg ranibizumab. DESIGN:Randomized, double-masked, controlled clinical trial. PARTICIPANTS:Thirty-nine pati...
journal_title:Ophthalmology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ophtha.2015.04.006
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:To report the results of repeated intravitreal injections of triamcinolone acetonide for treatment of diffuse diabetic macular edema. DESIGN:Retrospective interventional comparative study. PARTICIPANTS:The investigation included a study group (the responders) of 19 patients (22 eyes) with diffuse diabetic m...
journal_title:Ophthalmology
pub_type: 杂志文章
doi:10.1016/j.ophtha.2006.01.002
更新日期:2006-05-01 00:00:00