Abstract:
PURPOSE:In 40% retinoblastoma (Rb) results from a hereditary mutation of the Rb susceptibility gene (RB1). In this study, we tested the usefulness of intragenic DNA analysis for ophthalmologic follow-up in affected families. METHODS:Molecular analysis was performed on 103 DNA samples of 15 Rb families. We used 7 intragenic polymorphic markers and one within the ESD gene for mutation linkage analysis. FINDINGS:DNA analysis was informative in 88% of relatives at risk of developing Rb. Among them, the presence of a mutated RB1 allele was excluded in 46%, while 29% were unaffected carriers and 25% had inherited the Rb predisposition. CONCLUSION:In the majority of familial Rb, the DNA analysis allows the identification of children carrying a RB1 mutation and who will need a close ophthalmologic follow-up under general anesthesia. When the mutated gene is absent, ophthalmological examination under narcosis is unnecessary. Finally, identification of asymptomatic carriers improve the accuracy of genetic counselling.
journal_name
Klin Monbl Augenheilkdjournal_title
Klinische Monatsblatter fur Augenheilkundeauthors
Lendi B,Pescia G,Thonney F,Balmer A,Munier Fdoi
10.1055/s-2008-1035456subject
Has Abstractpub_date
1995-05-01 00:00:00pages
336-8issue
5eissn
0023-2165issn
1439-3999journal_volume
206pub_type
杂志文章abstract:BACKGROUND:The laser flare meter FM-500 (Kowa, diode laser, 670 nm) is a simplified version of the laser flare-cell meter FC-1000 (Kowa, He-Ne laser, 632.8 nm). the aim of this study was to compare flare measurements of the laser flare meter FC-500 with the established laser flare-cell meter FC-1000 and to determine th...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2008-1035284
更新日期:1996-08-01 00:00:00
abstract::It is useful to define atopic keratoconjunctivitis (AKC) as a non-infectious inflammatory condition of the ocular surface, which is associated with atopy. The pathogenesis of the disorder is not completely understood. The diagnosis is based on the patient's history and the clinical manifestations. Successful managemen...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1368396
更新日期:2014-05-01 00:00:00
abstract::Background Until now, many studies have investigated the link between motor development and visual-spatial abilities in infancy and childhood. Most of these studies found evidence that there is such a link in typically developing children or children with locomotor delay. Only a few studies have tested the consequence...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0043-118831
更新日期:2017-10-01 00:00:00
abstract:PURPOSE:The aim of the present article is to review the methodical and technological development of pars plana vitrectomy. Special attention is drawn to safety, efficiency and functionality of the innovative 25-gauge und 23-gauge vitrectomy systems which are compared to the standard 20-gauge vitrectomy system. This was...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-2007-963518
更新日期:2007-09-01 00:00:00
abstract::Non-penetrating glaucoma surgery was primarily developed as an alternative to the widely applied trabeculectomy. Since the anterior chamber in non-penetrating surgery is not directly opened, common postoperative complications such as hypotony are rare. The most frequently applied technique in this group is the deep sc...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,随机对照试验
doi:10.1055/s-0033-1351060
更新日期:2014-06-01 00:00:00
abstract::In this paper the author describes a modification of iridocyclectomy. Before opening the bulbus and removing the malignant melanoma, a lamellar scleral flap is formed with its base at the limbus. After extirpation of the tumor the area is "plastically" covered with this flap. This modification was used on 5 patients; ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1983-12-01 00:00:00
abstract:BACKGROUND:The optic disc size is an important parameter for the diagnosis of glaucomatous and non-glaucomatous optic nerve damage. The aim of this study was to compare quantitative measurements of the optic disc with the established conventional planimetry and a new digital method using Soft imaging system analySIS(tm...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2001-18664
更新日期:2001-11-01 00:00:00
abstract::In an ever-increasing number of the more than 4000 known genetic diseases with Mendelian inheritance, the geneloci have been mapped. In such cases it is possible to predict by DNA techniques whether or not family members are carriers of the mutation and risk having affected children. Using the same methods, disease ca...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046167
更新日期:1990-05-01 00:00:00
abstract:PURPOSE:To evaluate the efficacy of an intravitreal dexamethasone implant (Ozurdex®) in patients with cystoid macular oedema (CME) suffering from non-infectious uveitis. METHODS:Monocentric, retrospective, single-arm analysis in 49 patients (59 implanted eyes) with inactive uveitis, in whom CME had been unresponsive t...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0042-102058
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:The aim of the study was to evaluate the driving habits and patterns of those patients, who underwent cataract-surgery during a one year period at the Landesaugenklinik Salzburg and to compare the preoperative visual acuity with the legal requirements in effect in Austria. MATERIALS AND METHODS:The best-cor...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034842
更新日期:1998-02-01 00:00:00
abstract::A total of 369 ophthalmological practices were asked to report the number of patients seen within one test week who drove their cars but did not satisfy minimum legal requirements for diurnal visual acuity applicable for applicants for a West German Class 3 driver's license. There were 471 such patients. From this num...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054574
更新日期:1984-08-01 00:00:00
abstract:BACKGROUND:Data from national graft registries suggests a limited prognosis in the group of all repeat keratoplasties. This group might rather consist mostly of cases already classified as high risk in the first place, however. Thus, repeat keratoplasties in normal risk indications might have a substantially better pro...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1027127
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Gene therapy has gained increasing attention and a number of ongoing clinical trials have been initiated. This article provides current perspectives and limitations on gene therapy in ophthalmology. Since a number of comprehensive studies on gene therapy for retinal diseases already exist, we focus attention...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-2001-13073
更新日期:2001-03-01 00:00:00
abstract:PATIENTS AND METHODS:In 28 patients after perforating keratoplasty followed by epithelial abrasion of the transplant the period required for epithelial closure with a therapy including collagen shields and the growth stimulating factors vitamin A and Epidermal Growth Factor (EGF) was determined. RESULTS:A significant ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2008-1045517
更新日期:1994-10-01 00:00:00
abstract:PATIENT:A 68-year-old woman presented with massive congestion of lymphatic vessels of temporal inferior conjunctiva two months after extirpation of the parotic gland for an aciniform epithelioma on the same side. Clinical findings of the right and left eye were unremarkable otherwise. The congestion resolved spontaneou...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035351
更新日期:1995-07-01 00:00:00
abstract::Ciliary arteries, isolated from the eyes of human cadavers, were incised or severed under the microscope in order to test the technical possibilities of placing sutures or creating leak-proof anastomoses in ophthalmic vessels. Commercially available, minute atraumatic needles and 10-0 "Ethilon" or 15-0 Supramid suture...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057589
更新日期:1980-06-01 00:00:00
abstract:BACKGROUND:In facial palsies with lagophthalmic keratopathy an hour-glass dressing is indicated, which has the disadvantage of a moisture chamber with visual impairment by steaming up. After weeks of placement dermal irritations are possible. An alternative is the gravity dependent lidloading, using gold implantation i...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035353
更新日期:1995-08-01 00:00:00
abstract:BACKGROUND:Implantation of rigid gold or platinum lid weights (lidloading) represents the most common method for therapy of patients with lagophthalmus as a result of facial palsy. In a more recent approach also flexible platinum chains have been used. Glaucoma has frequently been described as a contraindication for li...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2004-813940
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:We wanted to analyse and compare the results of our first 100 cases of refractive surgery using the commonly accepted refractive parameters and using more subjective data. MATERIALS AND METHODS:Retrospective analysis of the first 100 consecutive cases of refractive surgery using objective and subjective cri...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1998-05-01 00:00:00
abstract::According to the German Social Legal Code I (I. Sozialgesetzbuch, SGB I) the recipient of social benefits is under obligation to submit to medical treatment if such treatment would result in an improvement of his/her condition or in the prevention of further deterioration (section 63 SGB I). In certain situations, lac...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050624
更新日期:1986-03-01 00:00:00
abstract::Out of 1300 eyes enucleated between 1966-1974, 300 subsequently revealed histologically-proved malignant melanomas of the uvea. In 264 cases the clinical diagnosis was correctly made. In 36 cases the i.o. malignant melanomas were clinically unsuspected. The incorrect clinical diagnoses included: secondary glaucoma (30...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1976-03-01 00:00:00
abstract:BACKGROUND:Heavier than water tamponades offer the possibility to support the inferior part of the fundus after retinal detachment. The aim of this study was to evaluate the anatomic and functional outcome of complicated retinal detachment treated with vitreous surgery and heavy silicone oil (HSO) tamponade. Surgery wa...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0028-1109685
更新日期:2009-09-01 00:00:00
abstract::Report on 530 lens implantation procedures performed in the years from 1981 to 1985. Different complications with different lens models are mentioned, in particular cystoid macular edema, subluxation or luxation of the artificial lens, vitreous complication, secondary cataract, and retinal detachment. A comparison was...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054355
更新日期:1985-11-01 00:00:00
abstract::In 82 cataract patients the power of the pseudophakos to be implanted was determined. Axial length and anterior chamber depth were measured by ultrasound. The results of keratometry and the echographic data were used for lens power calculation. For the accuracy of prediction the estimated post-operative anterior chamb...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1055264
更新日期:1982-11-01 00:00:00
abstract::1. The cells of the hyaloid canal originate from the primitive meningeal cells; 2. The lumen of the hyaloid canal can be observed through the optic nerve up to the subarachnoid space around the optic nerve; 3. Injections of tracer substances into the subarachnoid space of the optic nerve have shown that a communicatio...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1055078
更新日期:1982-05-01 00:00:00
abstract::a) Punctum plasty (eversion of the lacrimal point): This simple method results in a permanently enlarged punctum. A 4-0 silk suture is passed through the vertical part of the canaliculus and the conjunctiva, drawing them together very tightly. The thread falls out after 4-6 weeks. b) Management of trichiasis: Electrol...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046212
更新日期:1990-05-01 00:00:00
abstract::The biological significance of autophagy in the metabolism of visual cells is discussed. In the process of autophagy, parts of the cytoplasm including cell organelles are surrounded by membranes. This formation is called an autophagic vacuole. Then, the contents of the vacuole are degraded by enzymes. Autophagy is a w...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1978-09-01 00:00:00
abstract::In the presence of leukokoria the diagnosis of retinoblastoma is usually easy when the mediae are transparent. If they are not, however, one is frequently obliged to enucleate a painful or useless eye in order to rule out this diagnosis. In a series of eight cases having undergone enucleation for this reason at the La...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057514
更新日期:1980-04-01 00:00:00
abstract::In a study lasting 16 months, Timolol was tested on 57 eyes of a group of selected patients with open-angle glaucoma. Patients whose IOP could not be stabilized with the 0.25% solution were treated with 0.5% drops twice a day. In five separate cases, where regulation was inadequate, pilocarpine 2% twice a day was pres...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract::Among the group of diseases comprising corneal dystrophies, there are a number for which contact lenses may be considered. For example, soft contact lenses may be beneficial in the management of recurrent corneal erosions and advanced bullous keratopathy and may lead to disease attenuation in some conditions. They als...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/a-0735-9801
更新日期:2020-02-01 00:00:00