Abstract:
BACKGROUND:Lattice corneal dystrophy type I is one of the frequent forms of stromal dystrophies following autosomal dominant inheritance. The beta-IG-h3 gene encoding keratoepithelin on the long arm of chromosome 5 has recently been described as disease gene for lattice corneal dystrophy type I as well as for three other corneal dystrophies with autosomal dominant pattern of inheritance. PATIENTS AND METHODS:Ten family members in three generations of a large family with autosomal dominant lattice corneal dystrophy were analyzed clinically by slit-lamp biomicroscopy. Mutation analysis in the beta-IG-h3 gene was carried out at the mRNA level by RT-PCR and cDNA sequencing. RESULTS:A heterozygous single-base substitution (417C-->T) in exon 4 of the beta-IG-h3 gene was detected predicting the replacement of arginine-124 by cysteine. Analysis of 10 family members showed perfect cosegregation of the mutation and lattice corneal dystrophy type I. The investigation excluded this mutation in one family member previously classified as potentially affected. CONCLUSIONS:The investigation confirmed autosomal dominant inheritance with complete penetrance in the family described. The mutation 417C-->T has already been found earlier in another family of different geographic origin. These results suggest a mutation hot spot at position 417. In addition, no evidence of genetic heterogeneity of lattice corneal dystrophy type I was detected. Molecular genetic analysis (in conjunction with genetic counselling) therefore may be useful in routine diagnostics as the confirmation of the diagnosis by histological examination is possible only after keratoplasty. The common pathomechanism in lattice corneal dystrophy type I may facilitate development of new therapeutic concepts; the easy accessibility of the target organ may provide new possibilities e.g. for gene therapy.
journal_name
Klin Monbl Augenheilkdjournal_title
Klinische Monatsblatter fur Augenheilkundeauthors
Meins M,Kohlhaas M,Richard G,Gal Adoi
10.1055/s-2008-1034852subject
Has Abstractpub_date
1998-03-01 00:00:00pages
154-8issue
3eissn
0023-2165issn
1439-3999journal_volume
212pub_type
杂志文章abstract::Intraocular pressure (IOP) of 617 eyes was measured with both an AO non-contact tonometer (NCT) and a Goldmann applanation tonometer (GAT). - Statistical evaluation and the scattergram gave the following results: Correlation coefficient r = 0.74. Regression line y = 3.01 + 0.8x. Close agreement between mean GAT (17.8 ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057700
更新日期:1980-11-01 00:00:00
abstract::A short summary of the characteristics of speaking, reading and writing is given, followed by the respective anatomical, physiological and neuropsychological counterparts, which are to be described as the "Hör-Denk-Sprech-Seh-Schreib-Organismus" (H-D-S-S-SCH-O). Various disorders occurring in the H-D-S-S-SCH-O as well...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045842
更新日期:1992-05-01 00:00:00
abstract::A thorough examination, planned jointly by an internist and an ophthalmologist, is advocated for patients with uveitis. Close cooperation with all medical subspecialties is mandatory in order to save the time and money of both the physician and the patient. One or more relevant concomitant diseases were diagnosed in 7...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054563
更新日期:1984-07-01 00:00:00
abstract::Correct differential diagnosis in cases of blurred optic disc margins is a challenging task for ophthalmologists. The reliable differentiation of pseudopapilloedema and true papilloedema has significant implications for proper patient management. Conditions that give rise to pseudopapilloedema include small crowded di...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-0043-108489
更新日期:2017-06-01 00:00:00
abstract::Report on a patient with several symptoms which had not previously occurred together. The main symptom is palmoplantar keratosis; further alterations were kypho-skoliosis, brachytelephalangia of the thumbs, and in the eyes, keratoconus, a cataract and electroretinographic alterations. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057732
更新日期:1980-12-01 00:00:00
abstract::We report an exceptional case of fulminant endophthalmitis after uncomplicated extracapsular cataract extraction with posterior chamber lens implantation. The first unusual finding was the causative organisms, group G streptococci. These organisms are commonly found as normal flora of the skin, pharynx and gastrointes...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046045
更新日期:1991-06-01 00:00:00
abstract::Biologic disease modifying antirheumatic drugs (bDMARDs) can be highly efficient in the treatment of various non-infectious uveitis entities. Currently, the TNF-α-inhibitor Adalimumab is the only in-label therapeutic option, whereas, all other bDMARDs need to be given as an off-label therapy. bDMARDs are indicated in ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/a-0577-8006
更新日期:2018-05-01 00:00:00
abstract::Extensive experimental research proved that the healing of lens capsule wounds can be supported effectively by application of a fibrin tissue adhesive. The result is a circumscribed scar in an otherwise clear lens. The clinical application of the method was successful as well. Preliminary results have been published a...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054911
更新日期:1983-10-01 00:00:00
abstract::Although luetic ocular changes are rarely seen today they should not be neglected in differential diagnosis. Luetic papilledema is extremely rare and neurologic symptoms may be minor. A clinically observed case is described. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1979-12-01 00:00:00
abstract::In a pilot study comprising 16 eyes of 16 patients with chronic open-angle glaucoma the tonographic outflow facility was examined before and after Nd-YAG laser treatment of the trabecular meshwork. For evaluation of the facility effect of laser trabeculoplasty, the tonographic record between the third and seventh minu...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1051010
更新日期:1985-09-01 00:00:00
abstract:INTRODUCTION:Microsporidia are spore-forming, obligate intracellular protozoa. Humans seem to be infected only by 4 genera of microsporidia. Microsporidial keratoconjunctivitis in immunodeficient patients has a characteristic appearance. CASE REPORT:34 year old woman with AIDS complained of bilateral blurred vision. T...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034934
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:The postoperative clinical course after penetrating keratoplasty and trephination in free form using a guided excimer laser beam has been published before. Here the findings of light-microscopy comparing corneal wound healing after experimental penetrating keratoplasty after laser trephination and after conv...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 评论,杂志文章
doi:10.1055/s-2006-927097
更新日期:2006-12-01 00:00:00
abstract::In addition to ophthalmic symptoms (ptosis and retinitis pigmentosa), our patient displayed symptoms of disturbances of cardial conduction as well a mitochondrial myopathy. The latter was confirmed histologically. The order in which the symptoms of the disease appear may vary, but the close cooperation of ophthalmolog...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045466
更新日期:1994-05-01 00:00:00
abstract:PURPOSE:The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye Diseases at the Rudolf Virchow Hospital from 1918. He practiced there until 1938, when he was forbidden to enter the clinic because he was Jewish and subject to th...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type:
doi:10.1055/s-0042-100735
更新日期:2016-06-01 00:00:00
abstract::A new method of refractive corneal surgery is presented. With the q-switched Nd:YAG-laser Visulas (Zeiss-Oberkochen) we succeed in altering the optical power of the cornea of rabbits, pigs and humans. The number of applied laser spots and the distribution pattern influence the way and the amount of change of refractio...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046315
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Increased intracranial pressure (ICP) usually results in headaches and papilledema with infrequent loss of visual acuity. Peripapillary subretinal neovessel membranes (PSNVM) rarely complicate chronic papilledema. HISTORY AND SIGNS:Case 1: A headache-free 9-year-old boy presented with a bilateral loss of vi...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2005-857981
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:The optic nerve sheath meningioma usually presents with a diffuse atrophy of the disc and a diffuse depression of the visual field. Applying this rule too rigidly can lead to a false diagnosis. PATIENT:A 45y-old-woman presented with atrophy of the upper disc and a corresponding altitudinal field defect in h...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035368
更新日期:1995-09-01 00:00:00
abstract::BACKGROUND Many peptides now identified in the brain were previously thought of as exclusively peripheral hormones. Among those, the renin-angiotensin system (RAS) is not only found to be of great importance in peripheral vasomotor and electrolyte homeostasis but also acts as neurotransmitter or modulator in the centr...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1045478
更新日期:1994-06-01 00:00:00
abstract:PURPOSE:To determine the role of Indocyanin Green (ICG) angiography in localizing occult new vessels associated with age-related macular degeneration (ARMD) and assess the possibilities of ICG guided laser photocoagulations. PATIENTS AND METHODS:Fluorescein and ICG angiographies (IMAGEnet system) of 62 patients with o...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035228
更新日期:1996-05-01 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:BACKGROUND:Subretinal perfluorocarbon liquid (PFCL) droplets are occassionally seen after vitreoretinal surgery for retinal detachment. Usually they are located peripherally without causing complications and therapeutic consequences. In contrast, centrally located PFCL droplets affect final visual outcomes. In animal e...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0031-1299159
更新日期:2012-07-01 00:00:00
abstract::A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054578
更新日期:1984-08-01 00:00:00
abstract::As a model for our study we selected 11 pseudophacic patients with secondary cataracts who experienced good postoperative visual acuity after extracapsular cataract extraction. Besides best visual acuity and contrast sensitivity Pattern-ERG (PERG) and Contrast-Transfer-Ratio (CTR) were measured before and after YAG-Ka...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045788
更新日期:1992-05-01 00:00:00
abstract::A new classification of the glaucomas concerned with the mechanisms of the intraocular pressure rise is presented. We differentiate hyperproduction and outflowblock glaucomas. The latter are divided into pre-, intra- and postrabecular forms. It is stressed that a gonioscopically open angle can be hydrodynamically clos...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1979-09-01 00:00:00
abstract:BACKGROUND:The covered sclerotomy is a minimally invasive, standardized fistulating glaucoma surgical procedure with reduced risk of complications. Early postoperative bleb fibrosis is a main success-limiting problem. In this clinical study IOP follow-up and the one year success rate after primary application of mitomy...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章
doi:10.1055/s-0034-1383137
更新日期:2014-10-01 00:00:00
abstract::PATIENTS AND METHODS We present a 57-year-old white man with progressive deterioration of vision, who had a prolonged history of weakness, migratory arthralgias and loss of weight. Bilateral panuveitis, with iritis, inflammatory vitreous opacities associated with small, round, grayish retinal lesions. The duodenum sho...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045480
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Dilated episcleral vessels may be observed in patients with orbital tumors, carotid-cavernous-sinus fistula and other orbital obstructive lesions. As an idiopathic phenomenon dilated episcleral vessels may be associated with secondary open-angle glaucoma. PATIENT:We report on a 59-year-old patient with a hi...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035110
更新日期:1997-08-01 00:00:00
abstract:BACKGROUND:A pronounced fundus autofluorescence (lipofuscin) occurs in eyes with AMD. Parapapillary lipofuscin accumulation in the retinal pigment epithelial cells was observed in eyes with advanced glaucoma histologically. The aim of this study was to evaluate the parapapillary autofluorescence (PAF) in vivo in health...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2005-858856
更新日期:2006-04-01 00:00:00
abstract::The present paper reports a double-blind, cross-over, randomized study in which 31 patients (62 eyes) suffering from open-angle glaucoma were included. These patients were treated for one year with 0.5% levobunolol and 0.5% timolol ophthalmic solutions and followed up. Tonographic examinations of outflow facility show...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1989-03-01 00:00:00
abstract::In 1876 A. Weber introduced chemically from P. jaborandi isolated Pilocarpium muriaticum into the ophthalmological therapy. One year later it was used as a local drug to lower the intraocular pressure in glaucoma and replaced in the following years the extract of Calabar bean (Eserine). Clinical and pharmacological da...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 历史文章,杂志文章
doi:
更新日期:1976-11-01 00:00:00