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1.
Ophthalmologe ; 118(2): 139-143, 2021 Feb.
Article in German | MEDLINE | ID: mdl-32430610

ABSTRACT

BACKGROUND: When using subconjunctival/sub-Tenon's ab interno glaucoma surgical procedures, patient selection and preoperative management are essential to reduce postoperative scarring of the bleb. OBJECTIVE: The aim of this study was to compile a list of risk factors that may have an unfavorable effect on the scarring process. METHOD: A literature search was carried out in PubMed with respect to the scarring process of the gel implant XEN®. RESULTS: Ophthalmological risk factors for conjunctivoscleral/Tenon's wound healing process include dry eye, allergies, use of eye drops containing preservatives and previous eye surgery. CONCLUSION: The preoperative administration of artificial tear substitutes, corticosteroids and the fundamental change to preservative-free eye drops can support the normalization of a chronic inflammatory altered conjunctiva and thus positively influence the wound healing process after surgery.


Subject(s)
Glaucoma Drainage Implants , Glaucoma , Glaucoma/drug therapy , Glaucoma/surgery , Humans , Intraocular Pressure , Ophthalmologic Surgical Procedures , Stents
2.
Ophthalmologe ; 118(4): 383-390, 2021 Apr.
Article in German | MEDLINE | ID: mdl-32632495

ABSTRACT

Cerebral folate deficiency (CFD) results in neurological alterations and a massive degeneration of the choroid/retina if left untreated, which limit the visual field and visual acuity. This article reports the case of a female patient with CFD, who developed autistic personal characteristics prior to reaching school age and first started to speak at the age of 3 years. At the age of 6 years she was presented because of unclear reduced visual acuity in the right eye. At that time mild bilateral peripheral chorioretinal atrophy was present, which subsequently became more pronounced. Additionally, a centrally emphasized chorioretinal atrophy further developed. Visual acuity of both eyes progressively deteriorated until stagnating at 0.1 at the age of 14 years. The causal assignment of the findings of the patient was not possible for many years. Choroideremia was excluded by molecular genetic testing (CHM gene with no mutations) and gyrate atrophy was ruled out by a normal ornithine level. The existence of a mitochondrial disease was almost completely excluded by exome sequencing. After the onset of further nonocular symptoms, e.g. neuromuscular disorders, electroencephalograph (EEG) alterations and autistic disorder, intensified laboratory diagnostics were performed in the treating pediatric hospital. Finally, an extremely low level of the folic acid metabolite 5­methyltetrahydrofolate was detected in the cerebrospinal fluid (CSF) leading to the diagnosis of CFD. High-dose substitution treatment with folic acid was subsequently initiated. After excluding the presence of a pathogenic mutation of the FOLR1 gene for the cerebral folate receptor 1, a high titer blocking autoantibody against cerebral folate receptor 1 was detected as the cause.


Subject(s)
Folic Acid Deficiency , Retinal Degeneration , Adolescent , Atrophy , Child , Child, Preschool , Female , Folate Receptor 1/genetics , Folic Acid , Folic Acid Deficiency/diagnosis , Folic Acid Deficiency/drug therapy , Folic Acid Deficiency/genetics , Humans
3.
Ophthalmologe ; 116(4): 324-331, 2019 Apr.
Article in German | MEDLINE | ID: mdl-30623224

ABSTRACT

BACKGROUND: Molecular pathological research offers new chances for the diagnostic and therapeutic management of malignant iris tumors. Besides immunohistological and polymerase chain reaction analyses further techniques, such as multiplex ligation-dependent probe amplification, microsatellite analyses and next-generation sequencing are able to detect various mutations in the tumor genome. OBJECTIVE: An up to date review of new molecular pathological strategies for malignant iris tumors was carried out. METHODS: This article provides a review of the recent literature based on a PubMed search and clinical experience with iris tumors. RESULTS: The diagnostic characteristics and targeted treatment options are presented, exemplified by iris melanoma and iris carcinoma metastases. In iris melanomas, mutations in the GNA11 and GNAQ genes (in approximately 85% of the cases) seem to be important. Furthermore, the monosomy-3 status should be investigated in these tumors. In iris lymphomas, molecular pathological analyses are essential for an exact diagnosis. Detection of mutations in MYD88, BRAF, KLF2, ID3, TCF3, STAT3, RHo, TET2, IDH2, CXCR4, CD79B and DNMT3A are helpful. In particular, the detection of the CD20 antigen is of therapeutic relevance because this lymphoma subgroup responds well to rituximab, a CD20 antibody treatment. In iris carcinoma metastases, investigations for mutations are helpful because then a targeted treatment seems to be possible. CONCLUSION: Molecular pathological analyses will become essential in the future management of iris tumors because they play a key role towards a personalized treatment approach.


Subject(s)
Iris Neoplasms , Melanoma , DNA Mutational Analysis , Genetic Testing , Humans , Iris Neoplasms/pathology , Mutation
4.
Ophthalmologe ; 116(1): 73-84, 2019 Jan.
Article in German | MEDLINE | ID: mdl-30203171

ABSTRACT

YAG laser vitreolysis is an innovative procedure to treat symptomatic vitreous floaters. The treatment decision is based on taking a comprehensive patient history, thorough clinical examination, realistic expectations, and detailed patient information including risk of the procedure. Manifestation of vitreous opacities and possible subjective impairments are considerably variable. Dynamic changes over time are possible. Therefore, not all vitreous opacities are suitable for laser treatment. A classification according to histoanatomical origin can aid the treatment decision. In comparison to other ophthalmic YAG laser applications, YAG laser vitreolysis differs predominantly by its specific technical equipment requirements. In addition, treatment is more complex and time consuming, requires appropriate experience and knowledge of the surgeon, and should be carried out with utmost care and accuracy.


Subject(s)
Laser Therapy , Lasers, Solid-State , Humans , Vision Disorders , Vitrectomy , Vitreous Body
5.
Ophthalmologe ; 115(5): 363-369, 2018 05.
Article in German | MEDLINE | ID: mdl-29671050

ABSTRACT

The management of glaucoma therapy to reduce intraocular pressure commonly consists of a gradual approach with local monotherapy, combined therapy, laser surgery and finally filtration surgery. The local side effects of glaucoma medications and the lack of adherence and persistence to the medical therapy as well as the complication profile of the established glaucoma surgical techniques justify the introduction of new surgical procedures. Micro-invasive glaucoma surgery (MIGS) is a promising new surgical approach. Microstents can reduce the medication burden and prolong the need for filtration surgery. This review article presents the different trabecular implants (iStent, iStent inject, HydrusTM Microstent) in detail and discusses the effectiveness and safety of the procedures based on the currently available data.


Subject(s)
Filtering Surgery , Glaucoma Drainage Implants , Glaucoma , Glaucoma/surgery , Humans , Intraocular Pressure , Tonometry, Ocular
6.
Ophthalmologe ; 115(8): 649-654, 2018 Aug.
Article in German | MEDLINE | ID: mdl-29404678

ABSTRACT

BACKGROUND: The biomechanics of accommodation are of particular interest in terms of the causes of presbyopia and the function of intraocular lenses. OBJECTIVE: The aim of the present article is to model the mechanism of accommodation in detail. MATERIALS AND METHODS: The state of the art of applying biomechanical models to accommodation is presented, which enables the accommodation process to be understood. RESULTS AND CONCLUSION: The established models, which are based on the Helmholtz theory, can explain the accommodation process in a plausible manner. These models thereby also enable further investigations on the genesis of presbyopia as well as on the development of accommodative intraocular lenses and implants. However, measurements are always necessary to compare the simulation results with reality, and to provide input and material data as well as geometric dimensions of components of the eye.


Subject(s)
Accommodation, Ocular , Lens, Crystalline , Lenses, Intraocular , Presbyopia , Humans
7.
Ophthalmologe ; 113(11): 897-905, 2016 Nov.
Article in German | MEDLINE | ID: mdl-27738768

ABSTRACT

BACKGROUND: In contrast to all other glaucoma surgeries, filtration surgery is associated with biomicroscopically visible wound healing, which enables the surgeon to perform revision surgeries if necessary. OBJECTIVES: The aim of this review is to provide general considerations and to give a structured overview about bleb revisions after trabeculectomy. MATERIALS AND METHODS: The different revision techniques are explained in detail and in the context of perioperative management. RESULTS: Preoperative preparation and modifications of the surgical techniques reduce the incidence of postoperative revisions. The site of the fibrosis defines the revision technique (bleb needling, needle revision, bleb revision with reopening). The increased percolation rate of aqueous humor in postoperative hypotony contributes to fibrosis and may lead to maculopathy, choroidal effusion, and suprachoroidal hemorrhage. DISCUSSION: Discontinuing administration of local medication and pretreatment with steroids without preservative for at least one week prior to surgery increase surgical success of trabeculectomy and reduce the incidence of postoperative revisions. Postoperative management after filtration surgery should be performed after consulting the surgeon. The primary endpoint of trabeculectomy is an intraocular pressure between 8 and 12 mm Hg without local antiglaucomatous medication. In postoperative hypotony revisions should be done earlier and based on the pathological findings.


Subject(s)
Filtering Surgery/methods , Glaucoma/diagnosis , Glaucoma/surgery , Minimally Invasive Surgical Procedures/methods , Preoperative Care/methods , Reoperation/methods , Evidence-Based Medicine , Humans , Treatment Outcome
8.
Eye (Lond) ; 30(7): 979-86, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27101746

ABSTRACT

PurposeAnalysis of microstructural alterations of corneal and limbal epithelial cells in healthy human corneas and in other ocular conditions.Patients and methodsUnilateral eyes of three groups of subjects include healthy volunteers (G1, n=5), contact lens wearers (G2, n=5), and patients with dry eyes (G3, n=5) were studied. Imaging of basal (BC) and intermediate (IC) epithelial cells from central cornea (CC), corneal limbus (CL) and scleral limbus (SL) was obtained by in vivo confocal microscopy (IVCM). An appropriate image analysis algorithm was used to quantify morphometric parameters including mean cell area, compactness, solidity, major and minor diameter, and maximum boundary distance.ResultsThe morphometric parameters of BC and IC demonstrated no significant differences (P>0.05) between groups. Comparison between three corneal locations (CC, CL, and SL) within the groups showed significant differences (P<0.05) with mean values of cell area, compactness, solidity, and major and minor diameter of BC that increase from CC to limbus. The BC were round and regular in the central cornea (P<0.05) compared with CL and SL.ConclusionsIVCM enables high-quality confocal images from central corneal and limbal epithelium. This quantitative study demonstrated morphological differences in the basal and intermediate epithelium between limbus and central cornea, and found no differences between contact lens wearers, dry eyes, and normal subjects.


Subject(s)
Contact Lenses, Hydrophilic , Dry Eye Syndromes/complications , Epithelium, Corneal/cytology , Refractive Errors/therapy , Adult , Aged , Algorithms , Cell Shape , Cell Size , Contact Lenses, Hydrophilic/statistics & numerical data , Female , Healthy Volunteers , Humans , Limbus Corneae/cytology , Male , Microscopy, Confocal , Middle Aged , Pilot Projects
9.
Klin Monbl Augenheilkd ; 232(12): 1386-91, 2015 Dec.
Article in German | MEDLINE | ID: mdl-26678901

ABSTRACT

The value of diffusion-weighted magnet resonance imaging (DWI-MRI) has been demonstrated for an ever growing range of clinical indications. DWI is sensitive to the diffusion of water molecules and probes their random displacement within tissue. DWI provides both qualitative and quantitative information on tissue characteristics, e.g. tissue cellularity. This review provides an overview of diffusion-weighted imaging and its emerging applications in ophthalmology. The basic physics and technical foundations of DWI are introduced. The emerging applications of DWI are surveyed, particularly in diseases of the eye, orbit and optical nerve.


Subject(s)
Diffusion Magnetic Resonance Imaging/methods , Eye Diseases/pathology , Image Enhancement/methods , Orbital Diseases/pathology , Humans
10.
Klin Monbl Augenheilkd ; 231(12): 1203-14, 2014 Dec.
Article in German | MEDLINE | ID: mdl-25178044

ABSTRACT

Endothelial dysfunction and vascular dysregulation play a role in the multifactorial pathogenesis of glaucomatous optic nerve atrophy. Dyslipidaemia as a risk factor for endothelial dysfunction is associated with glaucoma and cardiovascular morbidity and mortality. In additional to a genetic disposition, a potential mechanism for the pathogenesis of endothelial dysfunction could be an additive effect of several risk factors, like dyslipidaemia, smoking, arterial hypertension, diabetes and hyperhomocysteinaemia. This paper reviews the literature concerning the association between dyslipidaemia and glaucomatous disease and explains the possible role of dyslipidaemia for the pathogenesis and progression of glaucoma. The role of exogeneous modifiable risk factors for prevention and therapy of glaucoma and their neutralisation by changing life style like weight reduction, modifications of nutrition and physical activity, are discussed.


Subject(s)
Diet Therapy/methods , Dyslipidemias/epidemiology , Dyslipidemias/prevention & control , Exercise Therapy/methods , Glaucoma/epidemiology , Glaucoma/therapy , Causality , Comorbidity , Dyslipidemias/diagnosis , Evidence-Based Medicine , Glaucoma/diagnosis , Humans , Incidence , Risk Factors
11.
Ophthalmologe ; 111(7): 638-43, 2014.
Article in German | MEDLINE | ID: mdl-24062148

ABSTRACT

BACKGROUND: The purpose of this study was to analyze if anterior chamber parameters are risk factors for the development of pigment dispersion syndrome (PDS) and/or for the conversion to pigmentary glaucoma (PG). PATIENTS AND METHODS: This study included a total of 63 eyes from 35 patients with PDS and PG and 65 eyes from 49 unaffected volunteers as the control group. The following parameters were measured by slit lamp optical coherence tomography (SL-OCT): anterior chamber volume (ACV) and depth (ACD), angle opening distance (AOD) and the trabecular iris space area (TISA) at 500 µm and 750 µm from the scleral spur. Comparisons between the following groups were performed: between the PDS/PG and the control group, between PDS and PG and between male and female patients. RESULTS: The results of ACV, ACD, AOD and TISA were significantly higher in PDS/PG patients when compared to the control group. There were no significant differences between PDS and PG. The gender-specific comparison also showed no significant differences. CONCLUSIONS: Significantly higher anterior chamber parameters are a possible risk factor for development of PDS; however, a higher risk of conversion to PG does not seem to correlate with increased anterior chamber parameters. The parameters of the anterior chamber are apparently not associated with the male predominance of PDS and PG.


Subject(s)
Anterior Eye Segment/pathology , Exfoliation Syndrome/complications , Exfoliation Syndrome/pathology , Glaucoma, Open-Angle/etiology , Glaucoma, Open-Angle/pathology , Slit Lamp , Tomography, Optical Coherence/methods , Adult , Aged , Female , Humans , Male , Reproducibility of Results , Risk Factors , Sensitivity and Specificity , Sex Factors , Tomography, Optical Coherence/instrumentation
12.
Ophthalmologe ; 110(12): 1134-48, 2013 Dec.
Article in German | MEDLINE | ID: mdl-24337205

ABSTRACT

The prospective multicenter randomized controlled clinical trials (RCTs) Ocular Hypertension Glaucoma Treatment Study (OHTS), Early Manifest Glaucoma Trial (EMGT), Advanced Glaucoma Intervention Study (AGIS), Collaborative Initial Glaucoma Treatment Study (CITGS) and Collaborative Normal Tension Glaucoma Study (CNGTS) are often named as landmarks for glaucoma management as the results of these studies provided the evidence for numerous therapeutic decisions in clinical practice. The studies confirmed the consensus that reduction of intraocular pressure reduces the risk of glaucoma progression covering the whole spectrum of glaucoma from ocular hypertension to advanced glaucoma. Furthermore, the identification of new risk factors allows a higher precision of assessment of the risk of progression. The RCTs achieved the main goal of high level of evidence, thus making progress in the understanding of glaucoma and its treatment and bridging consensus-based and evidence-based decisions. However, the implementation of the results into clinical practice needs adequate and accurate interpretation of the results.


Subject(s)
Antihypertensive Agents/administration & dosage , Glaucoma/drug therapy , Glaucoma/prevention & control , Intraocular Pressure/drug effects , Ophthalmic Solutions/administration & dosage , Randomized Controlled Trials as Topic , Evidence-Based Medicine , Glaucoma/diagnosis , Humans , Treatment Outcome
13.
Ophthalmologe ; 109(10): 962-75, 2012 Oct.
Article in German | MEDLINE | ID: mdl-23053331

ABSTRACT

Pseudoexfoliation (PEX) glaucoma is the most frequent and most important type of secondary glaucoma, accounting for approximately 25% of open angle glaucoma worldwide and currently representing the most common identifiable cause of glaucoma overall. Due to high intraocular pressure levels, marked diurnal pressure fluctuations and spikes, and rapid optic nerve damage and visual field loss, PEX glaucoma represents a relatively severe and progressive type of glaucoma. Therefore, hard and fast lowering of intraocular pressure is necessary. Fixed combinations in medical therapy and early glaucoma surgery are recommended. When considering a surgical procedure (e.g. selective laser trabeculoplasty, bleb-dependent or bleb-independent surgery) the timing of cataract surgery plays a major role. Pathogenesis, clinical characteristics and therapeutic aspects of PEX glaucoma are described in the following article.


Subject(s)
Exfoliation Syndrome/diagnosis , Exfoliation Syndrome/therapy , Glaucoma, Open-Angle/diagnosis , Glaucoma, Open-Angle/therapy , Combined Modality Therapy , Diagnosis, Differential , Disease Progression , Early Diagnosis , Exfoliation Syndrome/physiopathology , Follow-Up Studies , Glaucoma, Open-Angle/physiopathology , Humans , Intraocular Pressure/physiology , Melanins/metabolism , Ophthalmoscopy , Risk Factors
15.
Ophthalmologe ; 109(3): 229-34, 2012 Mar.
Article in German | MEDLINE | ID: mdl-22447419

ABSTRACT

Many ophthalmologists and obstetricians recommend either an assisted vaginal delivery with forceps or vacuum extraction, or a Caesarean section in cases of pre-existing eye diseases, such as myopia, retinal detachment, glaucoma or diabetic retinopathy. This is mainly based on the increase of intraocular pressure during the final stage of labor. These recommendations, however, are not evidence-based. None of the published trials have reported any retinal changes after vaginal delivery. This report provides information on the influence of physiological changes on eye diseases during the final stage of delivery. In general eye disease is not an indication for an instrumental or operative delivery provided regular eye examinations (once each trimester) have been performed.


Subject(s)
Delivery, Obstetric/methods , Delivery, Obstetric/statistics & numerical data , Eye Diseases/prevention & control , Eye Diseases/physiopathology , Obstetric Labor Complications/physiopathology , Eye Diseases/etiology , Female , Humans , Pregnancy
16.
Doc Ophthalmol ; 122(2): 77-86, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21290166

ABSTRACT

The effects of chloroquine intake on the retinal function in a Brazilian population of patients were assessed by multifocal electroretinography. Twenty-four randomly chosen eyes of patients treated with chloroquine for rheumatoid arthritis and systemic lupus erythematosus were examined using multifocal electroretinography (mfERG). Control measurements were acquired from 21 randomly chosen eyes of age-matched healthy subjects. None of the study participants had an inherited retinal disease or a Snellen visual acuity reduced to less than 20/40. In patients and control subjects, cumulative chloroquine dose, total daily dose, duration of treatment, retinal examination, visual field defects, visual acuity, and the mfERG were assessed. The average amplitudes and implicit times of the N1, P1, and P2 components of the mfERGs were measured in the central hexagon (R1) and in five rings (R2-R6). The values measured in patients and normal subjects were compared. The P1 amplitudes in R2 were significantly decreased in the patients. In addition, the amplitudes of N1 and N2 in R1 were significantly smaller in the patients. The implicit times of none of the components were significantly different between patients and controls. The response amplitude was not significantly correlated with cumulative dose and duration of intake. There was no correlation with retinal appearance, visual field, and visual acuity. In agreement with earlier data, the central mfERG amplitudes were decreased in chloroquine patients indicating functional alterations in the retina. These changes are also present in a Brazilian population suggesting that the effects of chloroquine are general and that genetic background and life circumstances probably have, if at all, only little effect.


Subject(s)
Antirheumatic Agents/adverse effects , Chloroquine/adverse effects , Electroretinography/drug effects , Retina/physiopathology , Retinal Diseases/chemically induced , Retinal Diseases/physiopathology , Adult , Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/drug therapy , Brazil , Chloroquine/therapeutic use , Female , Humans , Lupus Erythematosus, Systemic/drug therapy , Male , Middle Aged , Retina/drug effects , Visual Acuity/drug effects , Visual Fields/drug effects , Young Adult
17.
Eye (Lond) ; 25(1): 17-29, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21102494

ABSTRACT

PURPOSE: To assess the combined diagnostic power of frequency-doubling technique (FDT)-perimetry and retinal nerve fibre layer (RNFL) thickness measurements with spectral domain optical coherence tomography (SDOCT). METHODS: The study included 330 experienced participants in five age-related groups: 77 'preperimetric' open-angle glaucoma (OAG) patients, 52 'early' OAG, 50 'moderate' OAG, 54 ocular hypertensive patients, and 97 healthy subjects. For glaucoma assessment in all subjects conventional perimetry, evaluation of fundus photographs, FDT-perimetry and RNFL thickness measurement with SDOCT was done. Glaucomatous visual field defects were classified using the Glaucoma Staging System. FDT evaluation used a published method with casewise calculation of an 'FDT-score', including all missed localized probability levels. SDOCT evaluation used mean RNFL thickness and a new individual SDOCT-score considering normal confidence limits in 32 sectors of a peripapillary circular scan. To examine the joined value of both methods a combined score was introduced. Significance of the difference between Receiver-operating-characteristic (ROC) curves was calculated for a specificity of 96%. RESULTS: Sensitivity in the preperimetric glaucoma group was 44% for SDOCT-score, 25% for FDT-score, and 44% for combined score, in the early glaucoma group 83, 81, and 89%, respectively, and in the moderate glaucoma group 94, 94, and 98%, respectively, all at a specificity of 96%. ROC performance of the newly developed combined score is significantly above single ROC curves of FDT-score in preperimetric and early OAG and above RNFL thickness in moderate OAG. CONCLUSION: Combination of function and morphology by using the FDT-score and the SDOCT-score performs equal or even better than each single method alone.


Subject(s)
Glaucoma, Open-Angle/diagnosis , Retina/pathology , Tomography, Optical Coherence/methods , Visual Field Tests/methods , Visual Fields/physiology , Aged , Female , Humans , Male , Middle Aged , Nerve Fibers/pathology , ROC Curve , Sensitivity and Specificity
18.
Ophthalmologe ; 107(12): 1139-44, 2010 Dec.
Article in German | MEDLINE | ID: mdl-20535481

ABSTRACT

BACKGROUND: Tumors of the lacrimal drainage system are rare but potentially life-threatening. The purpose of this study was to investigate the applicability of selective lacrimal sac biopsy in 500 cases of external dacryocystorhinostomy for acquired dacryostenosis. PATIENTS AND METHODS: Lacrimal sac biopsy was obtained selectively for atypical clinical and/or intraoperative findings. The frequency and spectrum of biopsies were recorded and correlated with the follow-up results. RESULTS: Lacrimal sac biopsy was performed in 19 external dacryocystorhinostomies (3.8%) including non-Hodgkin B-cell lymphoma (3), squamous carcinoma (2), mucoepidermoid carcinoma (1), malignant melanoma (1), oncocytoma (1), pyogenic granuloma (4), Wegener's granulomatosis (4) and sarcoidosis (3). Within 5 years none of the patients without biopsy developed systemic inflammatory diseases or lacrimal neoplasms. The 5-year survival was 87% in patients with significant lacrimal sac pathology and 96% in patients without significant pathology. CONCLUSION: External dacryocystorhinostomy with selective biopsy for atypical clinical and intraoperative findings allows safe diagnosis and management of potentially life-threatening lacrimal lesions.


Subject(s)
Biopsy , Dacryocystorhinostomy/methods , Eye Neoplasms/pathology , Lacrimal Apparatus Diseases/pathology , Lacrimal Duct Obstruction/pathology , Nasolacrimal Duct/pathology , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Male , Middle Aged , Tomography, Optical Coherence
19.
Neuromuscul Disord ; 20(2): 139-41, 2010 Feb.
Article in English | MEDLINE | ID: mdl-20064724

ABSTRACT

Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO). We report on a patient with genetically confirmed Bloch-Sulzberger syndrome, who presented with a progressive myopathy and cardiomyopathy. Genetic analyses revealed an intragenic deletion (Intron3 and Exon10) of the NEMO/IKKgamma/IKKAP/IKBKG gene. Further complete sequencing of genes encoding for desmin, lamin A/C, emerin, and FHL1 showed no evidence of pathogenic mutations. A pathological expansion of CCTG repeats of the ZNF9 gene (PROMM) was ruled out by PCR amplification analysis. MLPA-analysis showed no evidence for duplications or deletions of the dystrophin gene. This report highlights the unusual combination of a genetically confirmed incontinentia pigmenti and a proximal myopathy and dilatative cardiomyopathy of unknown origin. We discuss that the striated muscle involvement (i) might be based on the observed intragenic deletion of the NEMO gene, or (ii) on an additional gene defect leading to an adult onset myopathy. Further studies on neuromuscular involvement in patients with incontinentia pigmenti are needed to clarify this issue.


Subject(s)
Cardiomyopathies/genetics , I-kappa B Kinase/genetics , Incontinentia Pigmenti/genetics , Muscular Diseases/genetics , Cardiomyopathies/metabolism , Cardiomyopathies/physiopathology , DNA Mutational Analysis , Female , Gene Deletion , Genotype , Humans , Incontinentia Pigmenti/complications , Incontinentia Pigmenti/metabolism , Introns/genetics , Middle Aged , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Muscular Diseases/metabolism , Muscular Diseases/physiopathology , Mutation/genetics , Myocardium/metabolism , Myocardium/pathology
20.
Klin Monbl Augenheilkd ; 226(3): 161-7, 2009 Mar.
Article in German | MEDLINE | ID: mdl-19294586

ABSTRACT

OBJECTIVE: A prerequisite for integrated care programmes is the implementation of a communication network meeting quality assurance standards. Against this background the main objective of the integrated care project between the University Eye Hospital Erlangen and the health insurance company AOK Bayern was to evaluate the potential and the acceptance of a web-based electronic patient record in the context of cataract and retinal surgery. METHODS: Standardised modules for capturing pre-, intra- and post-operative data on the basis of clinical pathway guidelines for cataract- and retinal surgery have been developed. There are 6 data sets recorded per patient (1 pre-operative, 1 operative, 4-6 post-operative). For data collection, a web-based communication system (Soarian Integrated Care) has been chosen which meets the high requirements in data security, as well as being easy to handle. This teleconsultation system and the embedded electronic patient record are independent of the software used by respective offices and hospitals. Data transmission and storage were carried out in real-time. RESULTS: At present, 101 private ophthalmologists are taking part in the IGV contract with the University Eye Hospital Erlangen. This corresponds to 52% of all private ophthalmologists in the region. During the period from January 1st 2006 to December 31st 2006, 1844 patients were entered. Complete documentation was achieved in 1390 (75%) of all surgical procedures. For evaluation of this data, a multidimensional report and analysis tool (Cognos) was used. The deviation from target refraction as one quality indicator was in the mean 0.09 diopter. CONCLUSIONS: The web-based patient record used in this project was highly accepted by the private ophthalmologists. However there are still general concerns against the exchange of medical data via the internet. Nevertheless, the web-based patient record is an essential tool for a functional integration between the ambulatory and stationary health-care units. In addition to the telemedicine functions of the system, we achieved the export of the data to a data warehouse system in order to provide a flexible and powerful tool for quality assurance analysis and reporting.


Subject(s)
Cataract Extraction/statistics & numerical data , Database Management Systems , Delivery of Health Care, Integrated/statistics & numerical data , Internet , Medical Records Systems, Computerized/statistics & numerical data , Physicians/statistics & numerical data , Quality Assurance, Health Care/methods , Attitude of Health Personnel , Germany , Quality Assurance, Health Care/statistics & numerical data
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