Quality of Life in a German Graves Orbitopathy Population

To evaluate the validity and responsiveness of a German-language version of the disease-specific Graves orbitopathy quality-of-life questionnaire (GO-QOL).Prospective cross-sectional study.At a multidisciplinary university orbital center, 310 consecutive unselected Graves orbitopathy outpatients answered the GO-QOL before undergoing complete ophthalmic and endocrine assessment. The main outcome measures were the GO-QOL and its 2 subscales, Visual Functioning and Appearance.The QOL scores for the subscales Visual Functioning and Appearance were (mean ± SE) 72.5 ± 1.4 and 71.3 ± 1.5, respectively. Visual Functioning and Appearance were higher in mild (82.2 ± 2.2 and 86.0 ± 17.6) than in moder…

Changes in quality of life in visually impaired patients after low-vision rehabilitation.

The objective of the study was to assess the impact of low-vision aids on quality of life. Interviews included a modified version of the National Eye Institute Visual Functioning Questionnaire (Modified German NEI VFQ-25), the Hospital Anxiety and Depression Scale, the Mini-Mental State Examination Blind, and Indicators of the Rehabilitation Status. These were conducted before and 5 months after low-vision rehabilitation that involved recommendation of devices and instructing patients on how to use them. Of a total of 88 patients interviewed before low-vision rehabilitation, 50 patients could be reached for the follow-up interview. A huge proportion of the sample reported clinically signifi…

Stellenwert der horizontalen Lidspaltung nach Wies in der Entropiumchirurgie

The horizontal blepharotomy or Wies procedure is a simple and quick surgical procedure for the correction of an involutional entropion. The procedure is directed against two of the at least three most important pathogenetic factors (horizontal lid loosening and overriding the preseptal orbicularis muscle). This article gives an overview of the literature and significance of this procedure gained in the 50 years since its first description.

Public Health Relevance of Graves' Orbitopathy

Disfiguring proptosis and functional impairment in patients with Graves' orbitopathy (GO) may lead to impaired earning capacity and to considerable indirect/direct costs.The aim of the study was to investigate the public health relevance of GO.This cross-sectional study was performed between 2005 and 2009 at a multidisciplinary university orbital center.A total of 310 unselected patients with GO of various degrees of severity and activity participated in the study.We conducted an observational study.We measured work disability and sick leave as well as the resulting indirect/direct costs of GO-specific therapies.Of 215 employed patients, 47 (21.9%) were temporarily work disabled, and 12 (5.…

Mycophenolate plus methylprednisolone versus methylprednisolone alone in active, moderate-to-severe Graves' orbitopathy (MINGO): a randomised, observer-masked, multicentre trial.

BACKGROUND: European guidelines recommend intravenous methylprednisolone as first-line treatment for active and severe Graves' orbitopathy; however, it is common for patients to have no response or have relapse after discontinuation of treatment. We aimed to compare the efficacy and safety of add-on mycophenolate to methylprednisolone in comparison with methylprednisolone alone in patients with moderate-to-severe Graves' orbitopathy.METHODS: MINGO was an observer-masked, multicentre, block-randomised, centre-stratified trial done in two centres in Germany and two in Italy. Patients with active moderate-to-severe Graves' orbitopathy were randomly assigned to receive intravenous methylprednis…

Central corneal thickness in mucopolysaccharidosis II and VI.

Objective To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection. Methods Twenty-eight patients with MPS (19 MPS II, nine MPS VI) underwent pachymetric investigation of CCT. Additionally, ultrasound measurements of axial length of the globe, slit-lamp evaluation with semiquantitative grading of corneal clouding, applanation tonometry, and assessment of refractive error were performed. Results Median average corneal thickness was 534.5 microm (range, 491.5-579.0 microm) in the MPS II and 547.0 microm (range, 492.5-693.05 microm) in the MPS VI group…

Complexity of expression of intermediate filament proteins, including glial filament protein, in endometrial and ovarian adenocarcinomas

The expression patterns of intermediate filament proteins of primary and metastatic endometrial (n = 18) and ovarian (n = 24) adenocarcinomas were analyzed by immunocytochemistry using a panel of specific antibodies and by gel electrophoresis of cytoskeletal preparations, followed by immunoblotting. All cells of all endometrial adenocarcinomas studied contained the "simple epithelial"-type cytokeratins (CKs) 8, 18, and (mostly) 19, with variable numbers of cells also positive for CK 7 and vimentin. In addition, most of these tumors contained individual cells or groups of cells that were positive for the stratification-related CKs 4, 5, 6, 13, 14, and 17. The latter CKs were often associated…

Stereotactic fractionated irradiation of optic nerve sheath meningioma: a new treatment alternative

Background: Primary optic nerve sheath meningioma (ONSM) is a rare but almost invariably blinding tumour when its natural history is observed in a “wait and see” strategy. Surgery has hitherto only been advocated in case of progressive disease involving intracranial structures, as it leads to iatrogenic blindness in the overwhelming majority of cases. Therefore, treatment options bearing lesser risk of functional deterioration are highly desirable, both in cases of intracranial involvement as well as during earlier phases of the disease which are currently generally left untreated. The authors report the outcome of the largest series of patients to date treated by stereotactic fractionated …

The Prevalence of Amblyopia in Germany

Amblyopia is a condition in which reduced visual acuity is not directly caused by an organic defect (1). Amblyopia can develop when an infant or small child suffers from strabismus. Although both eyes are healthy, different images are formed on each fovea centralis (where vision is sharpest) and on other corresponding locations on the retina; this is in contrast to individuals without strabismus. To prevent double vision the child’s brain suppresses the image produced by one eye. Complete visual ability cannot develop in this eye during the sensitive phase of visual development (2). Approximately half of amblyopia cases (3) are caused by uncorrected higher refractive errors, which are frequ…

Proteomics Differentiate Between Thyroid-Associated Orbitopathy and Dry Eye Syndrome.

PURPOSE: In patients with thyroid-associated orbitopathy (TAO), the dry eye syndrome occurs frequently, and symptoms and signs of both disorders overlap making early and accurate differential diagnosis difficult. A differentiation via specific markers is warranted. METHODS: Tear fluid samples of 120 subjects with TAO, TAO + dry eye, dry eye, and controls were collected. The samples were measured using matrix-assisted laser desorption ionization mass spectrometry. The identified proteins were tested with antibody microarrays. RESULTS: Proteomics identified deregulated proteins in TAO and dry eye. Compared with dry eye, proline-rich protein 1 (PROL1, P = 0.002); uridine diphosphate (UDP)-gluc…

Randomized trial of intravenous immunoglobulins versus prednisolone in Graves' ophthalmopathy.

Abstract Glucocorticoids are usually given for management of Graves' ophthalmopathy (GO), but they may cause side effects. By comparison, intravenous administration of immunoglobulins resulted in clinical improvement and decreased antibody titres in a large number of autoimmune diseases. Therefore, a randomized trial was done, in which 19 patients with active GO were treated with a 20-week course of oral prednisolone (P, starting dose 100 mg/day), and 21 received 1 g immunoglobulin/kg body weight for 2 consecutive days every 3 weeks. The immunoglobulin course was repeated six times. Before and at the end (20 weeks) of immunomodulating therapy, ophthalmological investigation and quantitative…

Computer assisted evaluation of retinal vessels tortuosity in Fabry disease.

. Purpose:  Fabry Disease (FD) is a rare X-linked metabolic disorder characterized by diffuse deposition of sphingolipids in many tissues. Retinal vessel tortuosity is a common ocular manifestation in FD and may represent a useful marker for the disease. Unfortunately its clinical evaluation is poorly reproducibile and alternative means of evaluation may be of interest. We tested a new semi-automatic software measuring retinal vessel tortuosity from eye fundus digital images in a group of FD patients. Methods:  Observational case-control study evaluating four mathematical parameters describing tortuosity (relative length, sum of angle metric [SOAM], product of angle distance [PAD], triangul…

Recurrent Granular Dystrophy of the Cornea

Purpose: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. Methods: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members was analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specimen, are described. Results: Histopathologic and molecular genetic findings confirmed the diagnosis. A new genetic polymorphism is described. Histopathologic evidence supports the assumption of the epithelial origin of the described dystrophy. Conclusions: A severe course of corneal granular dystrophy c…

Retrobulbäre Bestrahlung bei endokriner Orbitopathie - Erfahrungen im Langzeitverlauf

Background Significance of retrobulbar irradiation in patients suffering form Graves' ophthalmopathy, though established since almost one century, is subject of scientific debate. The present study investigated the effect of retrobulbar irradiation using a standardized protocol focussing on long term results. Patients and methods Between 1981 and 1997, 104 patients treated by retrobulbar irradiation (10 to 20 Gray) due to Graves' disease. Twenty-nine of these underwent irradiation as sole treatment (mean follow-up 57 months), while in the remaining 75, it was combined with a systemic steroid treatment (mean follow-up 40 months). Patients were evaluated regarding proptosis, intraocular press…

Primary optic nerve sheath meningioma

BACKGROUND. Radiotherapy (RT) has occasionally been practiced in the treatment of optic nerve sheath meningioma (ONSM). Recently, stereotactic fractionated RT (SFRT) has been introduced as a tool with better precision for RT delivery. A comprehensive review was undertaken to provide more insight into this matter. METHODS. A literature search was performed to identify reports dealing with both clinical aspects (diagnosis) and treatment in ONSM, focusing on RT in primary (p)ONSM. In particular, major emphasis was placed on the role of SFRT in pONSM. RESULTS. SFRT was capable of achieving excellent local tumor control, with improved/stable functional capacity in ≥80%, accompanied with very low…

Chronisches Lidödem assoziiert mit Rosazea (Morbus Morbihan): Differenzialdiagnostische Schwierigkeiten und Therapieoptionen

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 with Morbus Morbihan were observed at the Department of Ophthalmology of the University Medical Centre Mainz. In the present cohort study, we describe the clinical, laboratory and histological findings that led to the diagnosis. The course of the affection and the results of different therapeutic options are also reported. Results Each patient underwent a complete ophthalmologi…

Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a review

The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…

Alternative Methoden der Lokaltherapie bei komplizierten periokulären Infektionen – 2 Fallberichte

Hintergrund In der Regel konnen Wunden im Lidbereich mit gangigen Masnahmen der Lidchirurgie und lokaler Antibiose suffizient behandelt werden. An 2 Fallen zeigen wir exemplarisch, dass Verfahren der „2. Wahl“ – wie das biologische Debridement oder mit Unterdruck arbeitende Vakuumverbande – in ausgewahlten Fallen sinnvoll eingesetzt werden und der konventionellen Therapie sogar uberlegen sein konnen. Methodik und Ergebnisse Eine nekrotisierende Fasziitis des Oberlids bzw. der anterioren Orbita sowie ein therapierefraktarer Lidabszess wurden mittels biologischen Debridements und im 2. Fall zusatzlich mit einem Vakuumverband (VAC-Verband – VAC: Vacuum assisted Closure) behandelt. Erst mit die…

Hornhaut-Schlüsselbefunde im Kindesalter als Hinweis für therapierbare systemische Stoffwechselerkrankungen

Es gibt eine Reihe von systemischen lysosomalen Stoffwechselerkrankungen, bei denen bereits im Kindesalter krankheitsspezifische Hornhauttrubungen zu beobachten sind. Unter Lysosomen verstehen wir winzige Zellorganellen, die vom Golgi-Apparat gebildet werden. Sie enthalten verschiedene hydrolytische Enzyme und Phosphatasen, womit Fremdstoffe oder korpereigene Stoffe verdaut werden konnen. Die richtige Einordnung der Hornhautveranderung durch den Augenarzt an der Spaltlampe kann zur richtigen Diagnose der jeweiligen systemischen Stoffwechselerkrankung fuhren. Eine moglichst fruhe Diagnosestellung ist aktuell besonders bedeutend, da heute einem Grosteil der Patienten mit einer Speicherkrankhe…

Declaratión de consenso del Grupo europeo sobre la orbitopatía de Graves (EUGOGO) sobre el tratamiento de la orbitopatía de Graves' (OG)

Corneal tattooing: an alternative treatment for disfiguring corneal scars.

Background: The performance and results of corneal tattooing are described in a case series of 11 patients suffering from a disfiguring corneal scar using a technique similar to conventional dermatography. Methods: Drawing ink in different shades was applied into the anterior corneal stroma by punctures performed with a conventional spatula needle. Results: Up to 4 years after surgery all patients still had satisfactory staining of the formerly cosmetically disfiguring corneal scar. Conclusion: Tattooing of unsightly corneal scars proved to be an efficient and easy to perform technique, yielding acceptable results during follow up.

Ocular ductions after rectus muscle recession and resection in thyroid eye disease.

Background: Recession and resection of rectus muscles for correction of strabismus in Thyroid Eye Disease (TED) is relatively unpopular as it is assumed to enhance the restriction of ocular ductions. Therefore, the purpose of this study was to compare ductions of recession only and recess/resect procedures. Methods: We retrospectively reviewed the charts of 119 patients who underwent strabismus surgery for TED from 1991 to 2015, of which 102 were included in the present study. Forty-six interventions were performed on horizontal, 56 on vertical rectus muscles; comprising 41 recess/resect surgeries for horizontal deviations, and 7 in patients with vertical strabismus. Ocular ductions and ali…

Proteomics of Orbital Tissue in Thyroid-Associated Orbitopathy.

A potentially altered protein expression profile in orbital tissue from patients with thyroid-associated orbitopathy (TAO) is suspected.To detect for the first time changes in proteomic patterns of orbital connective tissue in TAO and compare these with control tissue using mass spectrometry.Proteomics cross-sectional, comparative study.Two academic endocrine institutions.A total of 64 orbital and peripheral adipose tissue samples were collected from 39 patients with TAO and 25 control subjects.Samples were analyzed and identified using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry technology.Mean intensity values of all identified peptides per protein.Thirty-…

Stereotactic fractionated radiotherapy in patients with optic nerve sheath meningioma.

Abstract Purpose: To evaluate the effectiveness of stereotactic fractionated radiotherapy (SFRT) in the treatment of optic nerve sheath meningioma (ONSM). Methods and Materials: Between 1994 and 2000, a total of 39 patients with either primary ( n = 15) or secondary ( n = 24) ONSM were treated with SFRT and received a median total tumor dose of 54 Gy using 1.8 Gy/fraction. Results: The radiographic response to SFRT was documented in all patients as stable disease (no change) except for 1 patient with a partial response. After a median follow-up of 35.5 months, all patients with ONSM were alive without recurrence. The visual fields and visual acuity were improved in 6 of 15 and 1 of 16 exami…

Expression of glial filament protein (GFP) in nerve sheaths and non-neural cells re-examined using monoclonal antibodies, with special emphasis on the co-expression of GFP and cytokeratins in epithelial cells of human salivary gland and pleomorphic adenomas.

We describe two novel monoclonal antibodies specific for glial filament protein (GFP), i.e., GF12.23 and GF12.24 (both IgG2a]. These cross-react over a broad range of species with epitopes located in the alpha-helical rod domain typical of all intermediate filament (IF) proteins. These monoclonal antibodies were used, in conjunction with other monoclonal GFP antibodies, rabbit antiserum to GFP, and various antibodies to other cytoskeletal proteins, to examine the occurrence of GFP in cells outside of the central nervous system of rodents, cows, and humans. We detected some scattered GFP-containing cells in the neural sheaths in some species but not in others, and we obtained different resul…

PREGO (presentation of Graves' orbitopathy) study: changes in referral patterns to European Group On Graves' Orbitopathy (EUGOGO) centres over the period from 2000 to 2012

BACKGROUND/AIMS: The epidemiology of Graves' orbitopathy (GO) may be changing. The aim of the study was to identify trends in presentation of GO to tertiary centres and initial management over time.METHODS: Prospective observational study of European Group On Graves' Orbitopathy (EUGOGO) centres. All new referrals with a diagnosis of GO over a 4-month period in 2012 were included. Clinical and demographic characteristics, referral timelines and initial decisions about management were recorded. The data were compared with a similar EUGOGO survey performed in 2000.RESULTS: The demographic characteristics of 269 patients studied in 2012 were similar to those collected in the year 2000, includi…

Ophthalmological Findings in Mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served a…

Intermediate-filament expression in ocular tissue.

Intermediate-filament proteins (IFPs) occur in the intracellular cytoskeleton of eukaryotic cells, and their expression in diverse tissues is related both to embryology as well as to differentiation. Although the available information concerning their functional properties in vivo is still incomplete, antibodies against individual IFPs are commonly used in immunohistochemical procedures as markers for differentiation, and these antibodies are of outstanding value in the routine histopathological evaluation of tumor specimens. This review presents a compilation of the currently available data concerning IFP expression in normal and diseased ocular tissues. Representatives of every known clas…

Clinical relevance of thyroid-stimulating autoantibodies in pediatric graves' disease-a multicenter study.

Context and Objective: The incidence of TSH receptor (TSHR) stimulating autoantibodies (TSAbs) in pediatric Graves' disease (GD) is controversial. This large, multicenter study evaluated the clinical relevance of TSAbs in children with GD both with Graves' orbitopathy (GO) and without orbital disease. Design: We conducted a cross-sectional retrospective study. Setting: Sera were collected in seven American and European academic referral centers and evaluated in a central laboratory. Patients and Samples: A total of 422 serum samples from 157 children with GD, 101 control individuals with other thyroid and nonthyroid autoimmune diseases, and 50 healthy children were studied. Main Outcome Me…

Laser and other treatment options in the therapy of infantile capillary eyelid and periorbital hemangiomas: An overview

Abstract Hemangiomas in infancy generally require a multidisciplinary approach. As a result of their natural course, usually with spontaneous involution, a “watch-and-wait” strategy often seems to be sufficient. Nevertheless, in periorbital hemangiomas not only cosmetic but also functional aspects may require an early intervention. There are many treatment options such as steroids, surgery, cryotherapy, magnesium seeds and laser. The present paper focuses on the different types of laser used in the treatment of infantile capillary eyelid and periorbital hemangiomas.

Update endokrine Orbitopathie

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…

Clinical Relevance of Thyroid-Stimulating Immunoglobulins in Graves' Ophthalmopathy

Purpose Thyroid-stimulating immunoglobulins (TSIs) likely mediate Graves' ophthalmopathy (GO). The clinical relevance of these functional autoantibodies was assessed in GO. Design Cross-sectional trial. Participants A total of 108 untreated patients with GO. Methods Thyroid-stimulating immunoglobulins, assessed with a novel bioassay, bind to the thyrotropin receptor (TSHR) and transmit signals for cyclic adenosine monophosphate (cAMP)-dependent activation of luciferase gene expression. The cAMP/cAMP response element-binding protein/cAMP-regulatory element complex induces luciferase that is quantified after cell lysis. The TSI levels were correlated with activity and severity of GO and compa…

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Purpose The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma. Methods A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms. Results Fourteen patients were identified (27 eyes) of 2…

Comparison of cyclodeviation and duction measurement in Graves' orbitopathy patients using different devices

To compare measurement outcomes of different devices measuring cyclodeviation and ductions in Graves' orbitopathy (GO) patients. Cyclodeviation in GO patients was measured using the Harms tangent screen (HTS), the cycloforometer of Franceschetti, and the synoptometer. Ductions were measured using the modified perimeter, the Goldmann perimeter and the Maddox tangent scale (MTS). In 13 patients, cyclodeviation in primary position, up-, and downgaze was measured with the above-mentioned devices. The mean differences ranged from 0.3º to 3.1º and were smallest between the HTS and the cycloforometer (89% of all measurements within 2º difference). Measurement of abduction, adduction, elevation, an…

Measuring corneal clouding in patients suffering from mucopolysaccharidosis with the Pentacam densitometry programme

Aim To identify a means to objectively measure corneal clouding in patients with mucopolysaccharidosis in a prospective controlled clinical trial. Methods Corneal haze was assessed by slit lamp examination and measured using the densitometry programme of the Pentacam, a rotating Scheimpflug camera in 33 mucopolysaccharidoses (MPS) patients and 32 controls. Results Pentacam measurements were available in 31 right and 31 left eyes of 32 patients and in 32 left and right eyes of 32 subjects in the control group. Slit lamp findings correlated very well with corneal density measurements (Spearman correlation right eye (OD)/left eye (OS)=0.782/0.791). MPS patients had higher density units (median…

Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases

Aims To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. Methods 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA…

Is there a relationship between the degree of preoperative motility impairment or the muscle thickness and the outcome of strabismus surgery in patients with graves' orbitopathy after decompression surgery?

There is considerable controversy regarding the performance of strabismus surgery in patients with Graves' orbitopathy (GO). The spectrum of recommendations extends from variable dose-effect correlations for these procedures (Esser, 1994; Mourits et al., 1990; Nguyen et al., 2002) to individualized approaches such as passive intraoperative motility testing and postoperative adjustment of sutures (Lueder et al., 1992; Nguyen et al., 2002), and to local anesthesia for intraoperative assessment of active motility (Kalpadakis et al., 2004). Furthermore, prior decompression surgery is known to contribute to an unpredictable outcome (Eckstein and Esser, 2003; Esser, 1994). We retrospectively anal…

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between September 2003 and October 2008 at the Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Germany. Variables included were urinary glycosaminoglycan (uGAG) level, mutation analysis, body height, forced vital capacity (FVC), 6-minute walk test, echocardiographic findings, the need for craniocervical decompression surgery, orthopaedic findin…

Orbital rhabdomyosarcoma in childhood

Background: Rhabdomyosarcoma is the most common malignant orbital tumor in children. Treatment modalities (individualized therapy or study protocol) have been changed radically. Surgery was supplemented by radiation therapy and chemotherapy. The objective of our retrospective analysis was to define the prognosis in correlation to changes of treatment in an unselected patient group of a single institution. Patients and methods: Between 1954 and 1995, 18 patients (age at presentation 1 month to 17 years, 11 male and 7 females) with orbital rhabdomyosarcoma were diagnosed and treated at our institution. Results: The 5-year survival rate was 76 %. Primary exenteration was replaced by tumor rese…

Hornhaut-Tätowierung

Trochlear palsies caused by isolated trochlear schwannomas.

To describe clinical features and management of 4 patients suffering from unilateral superior oblique palsies due to MRI-documented trochlear nerve schwannomas.Chart reviews of 4 patients seen at the departments of ophthalmogy and neurology at the University of Mainz.All four patients were male, aged 36 to 72 years at initial presentation. None suffered from neurofibromatosis. The history of double vision prior presentation was 9 months to 13 years, follow-up time was 9 to 156 months. Two patients didn't receive any intervention: one remained stable over the follow-up time of 9 months. In patient #2, fourth nerve palsy was diagnosed 13 years prior to confirmation of a trochlear schwannoma b…

Consensus statement of the European Group on Graves' Orbitopathy (EUGOGO) on management of Graves' Orbitopathy

Luigi Bartalena, Lelio Baldeschi, Alison J. Dickinson, Anja Eckstein, Pat Kendall-Taylor, Claudio Marcocci, Maarten P. Mourits, Petros Perros, Kostas Boboridis, Antonella Boschi, Nicola Curro, Chantal Daumerie, George J. Kahaly, Gerasimos Krassas, Carol M. Lane, John H. Lazarus, Michele Marino, Marco Nardi, Christopher Neoh, Jacques Orgiazzi, Simon Pearce, Aldo Pinchera, Susanne Pitz, Mario Salvi, Paolo Sivelli, Matthias Stahl, Georg von Arx, and Wilmar M. Wiersinga

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …

Quality of Life and Occupational Disability in Endocrine Orbitopathy

SUMMARY Background: In endocrine orbitopathy (EO), disfiguring proptosis and diplopia impair patients' quality of life both at home and at work. Methods: From late 2006 to the beginning of 2008, 250 outpatients in an interdisciplinary thyroid and eye clinic filled out a questionnaire about their quality of life, occupational disability, and use of psychotherapy. 400 physicians who referred their EO patients to the clinic also participated in a survey on these issues. Results: 45% of the patients complained of restrictions in their daily activities, and 38% reported impaired selfperception. 36% were on sick leave because of EO. 28% were disabled, 5% had retired early, and 3% had lost their j…

Subclinical optic neuropathy in Fabry disease.

Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of alpha-galactosidase A. Ophthalmic features comprise a cornea verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataracts. The issue of a possible subclinical optic neuropathy in Fabry disease has been raised recently. In this pilot study, we looked for signs of optic neuropathy in our cohort of Fabry patients.Thirty-one Fabry patients (15 male, 16 female, mean age 34 years) underwent an ophthalmological investigation consisting of assessment of best corrected visual acuity, slit lamp investigation, testing of pupillary reaction, fu…

Orbitale Manifestation der IgG4-assoziierten Erkrankung: eine Fallserie

ZusammenfassungDie IgG4-assoziierte Orbitopathie (IgG4-related orbital disease/IgG4 ROD) ist selten und gehört zu der erst in den letzten Jahren beschriebenen Multisystemerkrankung, der IgG4-assoziierten Erkrankung. Differenzialdiagnostisch ist sie von der idiopathischen orbitalen Entzündung, der endokrinen Orbitopathie und von einer orbitalen Neoplasie zu unterscheiden. Die Bildgebung mit MRT und eine Probenentnahme sind entscheidend für die Diagnose. Patienten mit dieser Erkrankung sprechen gut auf Steroide an. Im Folgenden werden 3 klinisch sehr unterschiedliche Manifestationen der orbitalen IgG4-assoziierten Erkrankung vorgestellt.

Tonographic Effect of Ocular Response Analyzer in Comparison to Goldmann Applanation Tonometry.

AIMS The tonographic effect is a phenomenon of intraocular pressure (IOP) reduction following repeated tonometry. This study examines whether the tonographic effect occurs following IOP measurement performed with Ocular Response Analyzer (ORA). METHODS Both eyes of 31 glaucoma patients and 35 healthy controls underwent nine IOP-measurements performed with GAT and ORA. The number of GAT and ORA measurements performed on each eye differed depending on the randomly allocated investigation scheme. Central corneal thickness (CCT), anterior chamber volume (ACV) and anterior chamber depth (ACD) were assessed with Pentacam before and after the repeated GAT/ORA measurements. RESULTS There was no sta…

In-vivo-Konfokalmikroskopie in der Diagnose des okulären Schleimhautpemphigoids

Hintergrund: Fur die Prognose des okularen Schleimhautpemphigoids (mucous membrane pemphigoid, MMP) ist eine fruhe Diagnosesicherung essenziell. Allerdings wird die Sensitivitat des sog. diagnostischen Goldstandards, der direkten (DIF) bzw. indirekten Immunfluoreszenz (IIF) mit einer Spanne von 30–80 % sehr variabel angegeben. Zusatzlich birgt die dafur notwendige Bindehautbiopsie die Gefahr der Exazerbation. Ziel dieser Studie war es, zu ermitteln, ob die nicht invasive In-vivo-Konfokalmikroskopie zur Erkennung eines okularen Schleimhautpemphigoids beitragen kann. Patienten und Methoden: Die Konjunktiva von 10 Pemphigoidpatienten und 10 Kontrollprobanden wurden mithilfe des o. g. Verfahren…

Is Homelessness a Risk Factor for Eye Disease?

<i>Background:</i> There is general agreement on the presence of a correlation between poverty and impaired health. However, only scarce data are available on whether this also applies to the incidence of eye disease. The present study was carried out to evaluate the prevalence of ocular disease in homeless people in Germany. <i>Methods:</i> 107 homeless people (97 male, 10 female; mean age 49 years, range 18–81 years) treated in specialised social service institutions were investigated prospectively according to a standardised ophthalmological screening protocol. This comprised visual acuity, assessment of pupillary light reaction, intra-ocular pressure, slit lamp e…

No Benefit of a Pediatric Screening in Discovering Reduced Visual Acuity in Children: Experiences from a Cross-Sectional Study in Germany

Background: The newly introduced German pediatric screening examination at the end of the third year of life (U7a) incorporates visual function testing in particular

Prevalence, Phenotype, and Psychosocial Well-Being in Euthyroid/Hypothyroid Thyroid-Associated Orbitopathy.

At the onset of thyroid-associated orbitopathy (TAO), most patients are hyperthyroid, while scarce data are available on euthyroid/hypothyroid TAO. The aim of this study was to assess the prevalence, phenotype, and psychosocial burden of patients with initially euthyroid/hypothyroid TAO.The medical records of 461 consecutive and unselected patients with TAO followed at a specialized joint thyroid-eye clinic were analyzed within this retrospective cross-sectional study. Main outcome measures were the prevalence of initially eu- or hypothyroid TAO as well as ophthalmic signs and symptoms, disease-specific quality of life (QoL), work impairment, and rate of psychotherapy in initially eu-/hypot…

Thyroid Stimulating Antibodies Are Highly Prevalent in Hashimoto's Thyroiditis and Associated Orbitopathy

Thyroid-associated orbitopathy (TAO) rarely occurs in patients with Hashimoto's thyroiditis (HT).There is evidence that TSH receptor stimulating antibodies (TSAb) play a role in the pathogenesis of TAO. In this report, the prevalence of TSAb in HT patients with and without TAO was studied.This is a longitudinal observational study.The study took place in an academic joint thyroid-eye clinic.A total of 1055 subjects were included.TSAb was measured with a Food and Drug Administration-cleared bioassay that uses Chinese hamster ovary cells expressing a chimeric TSH receptor and a cAMP response element-dependent luciferase. Results of TSAb activity were reported as percentage of specimen-to-refe…

Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy

Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…

Thyroid-associated orbitopathy is linked to gastrointestinal autoimmunity

Summary Common autoimmune disorders tend to co-exist in the same subjects and cluster in families. The objective of this study was to determine the prevalence of autoimmune co-morbidity in patients with autoimmune thyroid disease (AITD) with and without thyroid-associated orbitopathy (TAO). This was a cross-sectional study conducted at an academic tertiary referral centre. Of 1310 patients with AITD [n = 777 or 59% with Graves' disease (GD) and n = 533, 41% with Hashimoto's thyroiditis (HT)] followed at a specialized joint thyroid–eye out-patient clinic, 176 (13·4%) had an adult type of the autoimmune polyglandular syndrome, 129 (9·8%) type 1 diabetes, 111 (8·5%) coeliac disease, 60 (4·6%) …

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome

We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families presented with a similar course of renal disease starting with nephrotic syndrome and renal failure prenatally or immediately after birth that resulted in death before the age of 2 months. Kidney histopathology showed diffuse mesangial sclerosis (DMS). Clinically obvious eye abnormalities were recognized in six of the eight patients in whom sufficient clinical data were available. Ocular anomalies included enlarged or large appearing corneae in some cases suggesting buphthalmos, and extremely narrow, nonreactive pupils (microcoria). Pa…

The 2016 European Thyroid Association/European Group on Graves' Orbitopathy Guidelines for the Management of Graves' Orbitopathy

Graves' orbitopathy (GO) is the main extrathyroidal manifestation of Graves' disease, though severe forms are rare. Management of GO is often suboptimal, largely because available treatments do not target pathogenic mech anisms of the disease. Treatment should rely on a thorough assessment of the activity and severity of GO and its impact on the patient's quality of life. Local measures (artificial tears, ointments and dark glasses) and control of risk factors for progression (smoking and thyroid dysfunction) are recommended for all patients. In mild GO, a watchful strategy is usually sufficient, but a 6-month course of selenium supplementation is effective in improving mild manifestations …

Effects of intraocular cefotaxime on the human corneal endothelium

Abstract Purpose To ascertain whether 0.4 mL of cefotaxime 0.25% applied intracamerally causes toxic alteration of the human corneal endothelium. Methods In this prospective randomized masked study, 66 patients had cataract extraction using phacoemulsification, a frown incision, and implantation of a poly(methyl methacrylate) intraocular lens. This was followed by intraocular injection of 0.4 mL of cefotaxime 0.25% or balanced salt solution (BSS®). Contact specular microscopy and photography were performed preoperatively and 1 to 4 days and 3 months postoperatively. Results In the cefotaxime group, the mean endothelial cell count was 2729 cells/mm 2 ± 474 (SD) preoperatively, 2520 ± 462 cel…

Maggot therapy following orbital exenteration

Orbital exenteration is a radical surgery reserved for the treatment of locally invasive or potentially life-threatening orbital tumours.1 Complications occur after 20–25% of exenterations and include tissue necrosis (6%) and infection (3–4%).2–4 In the present report, we describe the management of a post-exenteration orbital infection by the use of maggots. An 82-year-old multimorbid man presented with a fist-sized painless tumour of the left orbit (fig 1A). Computed tomography demonstrated an orbital mass clearly demarcated from the surrounding tissue (fig 1B). After biopsy, the neoplasm was classified as a borderline-malignant extrapleural solitary fibrous tumour. Therefore, a total orbi…

Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey