Abstract：
BACKGROUND:Duane retraction syndrome (DURS) accounts for 1 - 4 % of all cases of strabismus. Approximately 90 % of the cases are sporadic with a preponderance for females and the left eye. Many associated ocular and systemic findings have been described. Recently, mutations of SALL4 have been found in patients with autosomal-dominantly inherited Okihiro syndrome (DURS associated with forearm malformations). The aim of this study was the clinical examination of patients with isolated sporadic DURS and the molecular genetic analysis of SALL4 in these patients. SUBJECTS AND METHODS:Twenty-five patients with non-familial DURS (aged 1 - 75 years, 16 female, 9male) were examined clinically and were interviewed concerning associated pathologies. DNA was prepared from peripheral lymphocytes, and the complete coding region of SALL4 was sequenced. RESULTS:In 18 patients DURS affected the left eye, in four the right eye, and was bilateral in three patients. One patient had fused vertebrae, one had a cone-rod-dystrophy. No hearing impairments or malformation of the upper limbs were observed. No mutation in the coding region of SALL4 could be detected. DISCUSSION:Associated conditions in DURS patients most commonly involve the ear, the spinal column, the kidneys and the heart and the upper limbs. No mutations in SALL4 could be detected in patients with isolated sporadic DURS as opposed to findings in familial Okihiro syndrome. However, Okihiro syndrome shows marked intra- and interfamilial variability, suggesting that in rare cases of isolated DURS a causative SALL4 mutation may be found.
journal_name
Klin Monbl Augenheilkdjournal_title
Klinische Monatsblatter fur Augenheilkundeauthors
Wabbels BK,Kohlhase J,Lorenz Bdoi
10.1055/s-2004-813662subject
Has Abstractpub_date
2004-10-01 00:00:00pages
849-53issue
10eissn
0023-2165issn
1439-3999journal_volume
221pub_type
临床试验,杂志文章abstract：BACKGROUND:After consulting the here presented CT-images of the orbit, the question was raised whether the ocular bulbus was really enucleated or the anamnesis was wrong and a lymphoma existed in the orbit. We will therefore discuss a case of a special follow-up after an enucleation with implantation of a "Bangerter Pl...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1035393
更新日期：1995-12-01 00:00:00
abstract：:The unusual combination of bilateral occipital calcification in the area of the calcarine fissure, optic atrophy and macular changes was seen in a four-year-old girl. Corrected visual acuity was R 0.1 and L 0.5. There was irregular concentric narrowing of the visual fields. The ERG was normal, but the latencies of vis...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1050092
更新日期：1988-02-01 00:00:00
abstract：:Two groups of 178 Children, treated and untreated by prisms, were examined 1 year after strabotomy. The advantage of prism treatment is clear from the 22% normalization of binocularity (compared with 11%), 51% normalization of retinal correspondence (compared with 22%), and 93% good cosmetic result (compared with 68%)...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1057741
更新日期：1980-12-01 00:00:00
abstract：:During his researches on colour-vision Goethe has examined two colour blind students. The reports and the colour tests made by Goethe himself are mostly preserved. Due to the colour confusions in the whole purple zone Goethe decided that the subjects were blue blind. During the 19th century-- however--the supposition ...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 传,历史文章,杂志文章
doi：
更新日期：1989-12-01 00:00:00
abstract：:In several studies a correlation between blood glucose levels and HbA1 (A1c) and the prevalence of retinopathy was documented. Minimal risk for the onset of retinopathy was observed when HbA1 was below 9% from the beginning of diabetes mellitus. This HbA1 (A1c) value corresponds with values above 7 mmol of blood gluco...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章,评审
doi：10.1055/s-2008-1045622
更新日期：1993-05-01 00:00:00
abstract：:We developed a "physical eye system" to evaluate visual impression after physical implantation of monofocal and multifocal intraocular lenses (IOLs). The system is constructed as two identical astronomical telescopes. The objectives imitate the cornea and behind this cornea the IOL is inserted. The image quality repre...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1045702
更新日期：1993-12-01 00:00:00
abstract：:General anaesthesia was performed in 75 patients with difficult intraocular procedures in which the standard relaxation and hyperventilation was supplemented by controlled short-term hypotension by sodium-nitroprusside. This resulted in a significant decrease of the "vis a tergo"--e.g. the threatening prolaps of intra...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：
更新日期：1977-06-01 00:00:00
abstract：:Anastomoses between vessels of the fundus may occur as congenital malformations or secondary to vascular diseases affecting the eye. Congenital anastomoses can be of the racemose hemangioma type, with severe malformation of the retinal vessels, ocular complications, and neurologic manifestations, or as simple A-V shun...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：
更新日期：1979-10-01 00:00:00
abstract：:Purpose OCT-A is a new method to visualise the 2D and 3D structures of neovascular complexes in exudative AMD. The aim of the present study was to characterise type 2 CNV in different 2D segmentations and in 3D imaging and to investigate changes during anti-VEGF treatment. Methods 12 patients with type 2 CNV in FA and...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-0043-118346
更新日期：2017-09-01 00:00:00
abstract：:A new treatment of a case of scleromalacia perforans, complicating rheumatoid arthritis is reported. To save the eye fascia lata was transplanted, preoperatively prednisolone and d-penicillamine was started, and this therapy was continued for one year thereafter. The effect was favorable, as pains vanished, and the gr...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：
更新日期：1975-09-01 00:00:00
abstract：:Following a brief survey of the subjects covered in this paper the author discusses the problem of lacrimal gland tumefactions. These can be divided into five groups: malignant lymphoma and leukemias, proliferative reactions of the lymphatic tissues, dacryoadenitis, secondary and metastatic tumors, and finally miscell...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1050952
更新日期：1985-06-01 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：BACKGROUND:With a cooperative patient, examination of the optic nerve head using optical coherence tomography (OCT) is fast and easy to perform and facilitates identification and monitoring of different pathological changes in the optic nerve head. MATERIALS AND METHODS:Characteristic findings and scanning options are...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章,评审
doi：10.1055/s-0042-116073
更新日期：2018-01-01 00:00:00
abstract：:Corneal endothelial cell loss may result from endogenic causes, such as acute angle-closure glaucoma, or exogenic causes, such as corneal contusion, corneal perforation or surgery involving the anterior chamber. The extent of endothelial cell loss varies with the severity of trauma. Despite the different causes the re...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1054698
更新日期：1983-01-01 00:00:00
abstract：:Catalase may provide protection against photochemical action of superoxide radicals and hydrogen peroxide. The authors tried to measure its activity in freshly enucleated calf eyes before and after argon laser irradiation. It was established by iodometric titration that catalase activity was reduced after irradiation ...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1050720
更新日期：1986-06-01 00:00:00
abstract：BACKGROUND:Due to theoretical considerations an increase in the depth of field of the diffractive IOL may be combined with a reduction in contrast sensitivity, glare sensitivity and colour perception. PATIENTS AND METHODS:A comparative analysis of both eyes was performed in ten patients with a diffractive multifocal I...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1035495
更新日期：1994-01-01 00:00:00
abstract：PURPOSE:The aim of this study was to evaluate the incidence, risk factors and management of glaucoma following penetrating keratoplasty (PK) and to check for possible correlations with the indication for PK. PATIENTS AND METHODS:534 eyes of 483 patients (age 54.7 +/- 19.8 years), that had undergone PK from 1989 to 199...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2000-10388
更新日期：2000-08-01 00:00:00
abstract：:Three variants of a new anomaloscope principle are described. This principle is distinguished by the fact that for generation of the mixed color and the reference color three interference filters with narrow band widths are used instead of an expensive dispersion prism. In the first variant the brightness of the mixed...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1055221
更新日期：1982-10-01 00:00:00
abstract：BACKGROUND:Various procedures are available for the treatment of advanced glaucoma. We examined the efficacy and safety of fractionated cyclophotocoagulation (CPC) with up to ten laser spots for advanced primary open-angle glaucoma (POAG) and pseudoexfoliation (PEX) glaucoma treated with maximal topical therapy or eye-...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/a-1057-9699
更新日期：2020-02-03 00:00:00
abstract：:Critically ill patients in the intensive care unit (ICU) may develop eye problems, due to impaired ocular protective mechanisms or direct involvement of the eye in severe systemic diseases. If eye infections or ocular surface disorders are not identified in time, endophthalmitis or corneal ulcer may develop and can ca...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-0042-121806
更新日期：2017-01-01 00:00:00
abstract：:Clinical and morphological studies were undertaken to characterize a case of congenital glaucoma combined with an ocular-dental-digital dysplasia in a two year old patient. Light and electromicroscopic investigations of a surgically removed trabecular specimen were carried out. A trabeculotomy had been performed at th...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
abstract：INTRODUCTION:Chronic hepatitis C-therapy is limited to the combined use of PEG-ylated interferons and ribavirin. Side effects of this therapy include retinal changes that manifest with bleeding, cotton wool spots and/or thrombosis. PATIENT:A 51-year-old man presented with a sudden decrease of visual acuity. Chronic he...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2004-813607
更新日期：2004-09-01 00:00:00
abstract：BACKGROUND:Transmitted in an autosomal dominant fashion, the pattern dystrophies involve the retinal pigment epithelium and the external macular retina and are usually divided into four different entities. However, a progression from one form to another is possible, various forms may coexist in the same patient and a c...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1035218
更新日期：1996-05-01 00:00:00
abstract：:Trauma of the medial canthal region can affect all parts of the lacrimal ducts. Depending on the patient's age, there may be different mechanisms of injury. Surgical reconstruction using two autostable ("self-retaining") monocanaliculonasal lacrimal tubes is demonstrated by two case reports. Here, a 6 years old girl a...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/a-0839-5172
更新日期：2020-06-01 00:00:00
abstract：BACKGROUND:Morbus Morbihan is a rare complication of rosacea, consisting of a persistent lymphoedema of the upper part of the face. It has typically a chronic course, unspecific histopathological findings and an extreme refractoriness to therapy. PATIENTS AND METHODS:Between February 2008 and January 2010, 5 patients ...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-0029-1245960
更新日期：2011-01-01 00:00:00
abstract：BACKGROUND:Vitamin and trace element deficiencies may cause visual disturbances. Before starting a substitutional therapy, specific investigations should be performed. HISTORY AND SIGNS:We present a kidney-transplanted patient who suffered for 6 months from night blindness. The electroretinography showed a severe decr...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2006-926632
更新日期：2006-05-01 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：:Optical coherence tomography (OCT) supplies morphological information from different retinal layers. In glaucoma, analysis of the nerve fiber layer is gaining more and more significance: Losses in this layer often precede by years functional losses in the visual field and end up in optical nerve head changes. OCT offe...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章,评审
doi：10.1055/s-2006-926820
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:To investigate in human and porcine isolated ciliary bodies the effect of acetazolamide and epinephrine on ciliary transepithelial ionic currents (a parameter linked to aqueous humor production). MATERIAL AND METHODS:Isolated ciliary bodies were mounted in a Ussing-type chamber to measure transepithelial po...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2003-38168
更新日期：2003-03-01 00:00:00
abstract：BACKGROUND:Recently, a method of objective Vernier acuity testing using a modified Catford drum was presented. A tight correlation between the objective Vernier acuity and the Snellen acuity was reported (Hopkisson et al. 1991). PATIENTS AND METHODS:In 41 cooperative patients with strabismic amblyopia and 20 normal su...
journal_title：Klinische Monatsblatter fur Augenheilkunde
pub_type： 杂志文章
doi：10.1055/s-2008-1035505
更新日期：1994-02-01 00:00:00
