Abstract:
BACKGROUND:Predisposition is responsible for approximately 50% of age-related cataracts. Investigation of inherited forms of cataract provides the opportunity to identify the genes that may play a role in age-related cataract as well. PATIENTS AND METHODS:We describe the phenotype of a Swiss family with juvenile cataract, associated with microcornea and renal glucosuria. 11 of 17 family members in three generations underwent ophthalmic assessment and urine analysis. Medical records or questionnaires were evaluated in the remaining six cases. RESULTS:Eleven family members had progressive juvenile cataract. Eight affected members available for clinical examination had bilateral microcornea, not associated with microphthalmos. Furthermore, renal glucosuria was demonstrated in six of these persons. The mode of inheritance is autosomal-dominant. CONCLUSIONS:We have defined a new syndrome, consisting of the association of juvenile cataract, microcornea and renal glucosuria. The pattern of inheritance is autosomal-dominant. Genotyping is ongoing.
journal_name
Klin Monbl Augenheilkdjournal_title
Klinische Monatsblatter fur Augenheilkundeauthors
Vandekerckhove K,Lange AP,Herzog D,Schipper Idoi
10.1055/s-2007-962943subject
Has Abstractpub_date
2007-04-01 00:00:00pages
344-6issue
4eissn
0023-2165issn
1439-3999journal_volume
224pub_type
杂志文章abstract::The effect of topical administration of Buphenine was studied in a group of aphakic patients (53 eyes). The action of the drug was paradoxical: it induced an increase, often remarkable, in intraocular pressure in more than 70% of the eyes thus treated. The cause of the elevated IOP is discussed. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057566
更新日期:1980-05-01 00:00:00
abstract::Thirty patients with ocular hypertension or open-angle glaucoma were tested to see if, and to what extent, guanethidine/dipivefrin and pilocarpine produced a supplementary reduction in intraocular pressure. An equally marked additional lowering of pressure was achieved when patients who had been given guanethidine/dip...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050337
更新日期:1987-02-01 00:00:00
abstract::Typical visual field defects were found in 86 acute anterior ischemic optic neuropathies occurring in 71 patients. These field defects suggest a separate vascular supply of the upper and lower half of the disc and of the maculo-papillar bundle. A sub-division into four sectors can be inferred in the upper half of the ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1978-07-01 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::In this study the Reichert non-contact tonometer (NCT II) was compared with the Goldmann applanation tonometer (GAT) in 25 subjects (50 eyes; pressure range 9-17 mmHg). The relationship NCT/GAT fulfilled the conditions required for legal verification. Marked differences between the readings of both instruments can be ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046068
更新日期:1991-09-01 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::Three iridocorneal endothelial syndromes are distinguished: essential progressive iris atrophy, iris nevus (Cogan-Reese) syndrome, and Chandler's syndrome. Obviously, there are patients in whom findings do not correspond fully to any one of the three syndromes; signs and symptoms which justify being considered as a ne...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050446
更新日期:1987-06-01 00:00:00
abstract:BACKGROUND:A number of clinical studies have investigated the influence of hypnotics and relaxants on intraocular pressure. All of them referred to the normal eye. Our goal was to show if there is a difference in intraocular pressure profile during general anesthesia between eyes with and without primary open angle gla...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034826
更新日期:1998-01-01 00:00:00
abstract::Millions of people work or spend their free time sitting in front of VDUs that induce contingent visual effects. However, only a few notice irritations in the course of everyday work: motion after-images such as the waterfall illusion or tilt after-effects are possible. A new effect may be caused by those new VDU moni...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2006-926691
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:Previous studies have demonstrated, in the cat, a vasodilatation of retinal vessels in response to neuronal activity induced by diffuse luminance flicker. The aim of this study was to determine whether a similar diameter variation is detectable in humans. MATERIALS AND METHODS:Nine normal subjects were expo...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034897
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:Most of the presentations concerning quality assurance following cataract surgery are based upon objective data, as it should be. But the success of an eye-clinic is not limited by such objective data, but on the contentment of the patients and the local colleagues, who direct the patients. Our aim in the fo...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035305
更新日期:1996-10-01 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:PURPOSE:Imaging methods of the optic nerve head appear to have an increasing impact in glaucoma diagnosis. The aim of this study is to evaluate the specifity of the Heidelberg Retina Tomograph (software version 1.7 and 3.0) in subjects with physiological cupping and large optic discs. PATIENTS AND METHODS:27 eyes of 2...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0032-1328094
更新日期:2014-02-01 00:00:00
abstract::The authors report on lens opacities in 473 healthy children and in 371 children with type I diabetes mellitus. Only 11 percent of the healthy children had lens changes, whereas they were found in 65.6 percent of the children with diabetes mellitus. A large number of specific lens alterations were observed in the diab...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050998
更新日期:1985-08-01 00:00:00
abstract::In 14 out of 25 patients with retinoblastoma there was a family history of malignancies. Most of the malignant tumours had been carcinomas. In 2 families relatives died because of leukaemia; in these cases the tumour was a so-called diffuse retinoblastoma occurring in elder children. A third family with a retinoblasto...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1976-05-01 00:00:00
abstract::Silicon lenses, noted for their flexible elasticity, were submitted for patent registration prior to HEMA lenses, and before practical experience was available. Favorable clinical trials remained undone for a long time. After preclinical tests with additively moistened silicons and a new hydrophilic coating, clinical ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046016
更新日期:1991-05-01 00:00:00
abstract::On account of the good results with the new generation of anterior chamber lenses reported by C.D. Binkhorst, the implantation of lenses was begun in 1969 at the Department of Ophthalmology in Bremen and 350 anterior chamber lenses were implanted till 1st Febr. 1977. After the presentation of indications and the opera...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:
更新日期:1978-03-01 00:00:00
abstract::By means of nyctometry we examinated in a group of normal persons and in a group of juvenile diabetics if the adaptability of the adaptation system in possible under various conditions of initial adaptation. It appears, that nondiabetics possess a sufficiently reactive functional system, while in diabetics, we found a...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1976-09-01 00:00:00
abstract::The authors report on the techniques of laser treatment of diabetic maculopathy: focal direct laser coagulation of I.R.M.A. in exudative maculopathy; laser grid photocoagulation in edematous maculopathy. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050820
更新日期:1986-11-01 00:00:00
abstract:PURPOSE:Sturge-Weber syndrome is a rare congenital disorder consisting of cutaneous, leptomeningeal and ocular vascular malformations. Glaucoma occurs in 30-70 % of patients. Treatment is challenging due to a high risk of severe complications such as expulsive haemorrhage, massive choroidal effusion and serous retinal ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1315217
更新日期:2012-10-01 00:00:00
abstract::Oxidative stress at the retinal pigment epithelium (RPE) is involved in the pathophysiology of age-related macula degeneration (ARMD). Observations on a clinical or laboratory level have revealed that supplementation of antioxidative scavengers failed in many cases. A potential therapeutic target is the cellular signa...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1027600
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Most reports on transscleral suture fixation of posterior chamber lenses (PCL) do not mention the principal difficulty that the surgeon has no valid information which structures were perforated by the needle and where he happened to fix the PCL loops. To know this exactly is a "conditio sine qua non". Withou...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045599
更新日期:1993-04-01 00:00:00
abstract:BACKGROUND:First described in 1957, anterior segment ischemia (ASI) following extraocular muscle surgery for non paralytic or paralytic strabismus is a rare but serious complication. Systemic and anatomical risk factors can be identified and vesselsparing surgical techniques used. The aim of this study is to evaluate t...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034887
更新日期:1998-05-01 00:00:00
abstract::In two patients (a married couple) the oral intake of 5 mg diazepam (Valium) per day (sometimes even more) over several years led to a homogeneous brown opacification of the lens under the anterior capsule over an area corresponding to the mean pupillary diameter. The deposit is obviously irreversible. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1051023
更新日期:1985-09-01 00:00:00
abstract:PURPOSE:Endothelial cell damage can be found after a phacoemulsification. The reason for this cell damage is not yet known. The temperature rise inside the anterior chamber during the emulsification of the lens is considered as a potential damage mechanism. The aim of this study was to investigate the relationship betw...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0034-1382848
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:The theory of the "Measuring and Correction Methods of H.-J. Haase" (MCH) states that a small misalignment of one eye, called fixation disparity, indicates a difficulty in overcoming a "vergence position of rest" that is different from ortho position. This difficulty, so the theory, can cause asthenopic comp...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 临床试验,杂志文章
doi:10.1055/s-2000-10587
更新日期:2000-06-01 00:00:00
abstract::Recent technological innovations in cataract surgery have made the procedure even more precise and safe and the odds of having a highly satisfied patient even higher. These innovations include visualisation systems - such as intraoperative aberrometry - which are particularly helpful when it comes to implanting toric ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-0042-121423
更新日期:2017-08-01 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::In a series of cataract operations with a corneal incision PDS 10-0 absorbable sutures were tested. In contrast to deeper PDS sutures, such as are used in corneoscleral incisions, the corneal sutures opened as early as between 13 and 30 days postoperatively in 5 out of 7 cases. Postoperative irritation was more severe...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054984
更新日期:1983-12-01 00:00:00
abstract::Corneal topographs that measure the anterior and posterior corneal surface with optical methods need a clear cornea for precise measurements. Opacities cause artifacts in the corneal thickness (with measurements usually being too thin) and corneal curvatures. This is important to know as certain pathologies may repeat...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0032-1327956
更新日期:2012-12-01 00:00:00