RESUMO
BACKGROUND: Sexual dysfunction is a frequent, yet underrated, symptom of neurological disease. While knowledge of non-motor comorbidity in focal dystonia is growing rapidly, there is no information on the prevalence of sexual dysfunction in cervical dystonia (CD) or blepharospasm (BL). METHODS: In this controlled study, we examined sexual dysfunction in 65 patients with CD and 54 patients with BL by the Arizona Sexual Experience Scale, a validated self-rating scale. RESULTS: Sexual dysfunction was significantly higher in CD patients (45%) than in controls (24%), and frequent in BL (39%). Interestingly, variables of dystonia such as disease duration or severity did not influence sexuality; yet, 23% of CD patients ascribed worsening of their sexual life to dystonia. Symptoms of depression were identified as the most important predictors for sexual dysfunction, followed by age, and personal status (single). CONCLUSION: Our observations establish sexual dysfunction as a frequent non-motor symptom in CD and BL that is perceived as a burden. It should be considered when investigating patients with adult-onset focal dystonia.
RESUMO
Botulinum toxin is recognised as the gold standard for the treatment of essential blepharospasm and hemifacial spasm, which is similar in effect in synkinesis after facial nerve palsy. The injection intervals can be adjusted according to the patients' needs and be shortened for up to six weeks in cases of eyelid cramping. Newer indications for the use of botulinum toxin in ophthalmology include eyelid retraction in Graves' disease, induction of protective ptosis and treatment of crocodile tears syndrome after facial nerve palsy. In future, botulinum toxin may be used in depression (facial feedback), facial injuries and for protection of facial glands against irradiation injury.
Assuntos
Blefaroptose , Blefarospasmo , Toxinas Botulínicas , Espasmo Hemifacial , Blefaroptose/terapia , Blefarospasmo/terapia , Toxinas Botulínicas/uso terapêutico , Toxinas Botulínicas Tipo A , Espasmo Hemifacial/terapia , Humanos , Oftalmologia/métodosRESUMO
Botulinum toxin can be a useful tool for treating acute sixth nerve palsy and excessive eye deviations due to unstable Graves' disease, when surgery is not yet possible. The diagnostic injection for estimation of possible postoperative double vision also makes sense. In convergence spasms, periocular botulinum toxin injections can be a therapeutic option. Botulinum toxin is not a first line option in infantile esotropia without binocularity or in adult horizontal strabismus. Side effects include ptosis and vertical deviations.
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Toxinas Botulínicas/uso terapêutico , Estrabismo/tratamento farmacológico , Doenças do Nervo Abducente/complicações , Doenças do Nervo Abducente/tratamento farmacológico , Adulto , Toxinas Botulínicas/efeitos adversos , Contraindicações , Diplopia/diagnóstico , Diplopia/tratamento farmacológico , Alemanha , Doença de Graves/complicações , Doença de Graves/tratamento farmacológico , Humanos , Lactente , Injeções Intraoculares , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/tratamento farmacológico , Uso Off-Label , Estrabismo/diagnósticoAssuntos
Alopecia em Áreas/induzido quimicamente , Alopecia em Áreas/patologia , Blefarospasmo/induzido quimicamente , Blefarospasmo/diagnóstico , Toxinas Botulínicas/efeitos adversos , Sobrancelhas/efeitos dos fármacos , Toxinas Botulínicas/administração & dosagem , Diagnóstico Diferencial , Sobrancelhas/patologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: Up to now, no long-term results about squint surgery with adjustable sutures have been published although it has been practiced using the current techniques since the 1970s. The aim of the study was to analyse patient satisfaction and objective findings and to compare the results to studies about squint surgery with adjustable as well as non-adjustable sutures. METHODS: Patients who had had squint surgery with adjustable sutures more than 10 years ago were identified according to their surgical records. They were contacted and asked to fill in a questionnaire. The collective consisted in cases which appeared to be difficult in treatment, e.g., 52 % had undergone previous squint surgery. RESULTS: We could analyse answered questionnaires of 113 patients (return rate 41.9 % of all contactable patients). In 34 patients (30 %) postoperative adjustment was actually performed, in the others the suture was only knotted. 89.4 % of patients either had no problems or did not remember the procedure of adjustment or knotting, respectively, the others had slight discomfort. There were no technical problems in surgery or adjustment. After an average period of 11 years, the satisfaction was very high. The reoperation rate was 7 %. CONCLUSIONS: Squint surgery with adjustable sutures is a valuable tool in difficult strabismus cases with good long-term patient satisfaction without specific problems of surgery.
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Satisfação do Paciente/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Estrabismo/cirurgia , Técnicas de Sutura/instrumentação , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Estrabismo/diagnóstico , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Botulinum neurotoxin injections are a primary symptomatic treatment for blepharospasm. Injections are generally repeated every 3 months. For patients with short-term treatment effects there have therefore been long intervals without sufficient treatment effects, as reinjections have previously been avoided due to concerns of increased side effects or production of antibodies against complexing proteins. METHODS: As Xeomin® is a pure A botulinum toxin type complexing proteins are not present. We have hence decided to treat appropriate patients with injection intervals of 10 or less weeks if these patients have been suffering from psychological stress. PATIENTS: In 11 of these patients the typical patient characteristics and course of therapy were analyzed. There were no relevant adverse events. In all patients, time periods without treatment effect were shorter or no longer present. In 6 patients injection intervals could be prolonged after several injections due to the good effect. CONCLUSION: An optimized therapy of essential blepharospasm should not only take dose, dose distribution and injections site into account but also injection intervals. Reinjections could be performed if necessary after at least 6 weeks.
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Blefarospasmo/diagnóstico , Blefarospasmo/tratamento farmacológico , Toxinas Botulínicas Tipo A/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Antidiscinéticos/administração & dosagem , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Humanos , Injeções Intramusculares , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
A 13-year-old adolescent presented with an enlarging subcutaneous mass beneath the right eyebrow. Clinically suspicious for dermoid cyst or pilomatrixoma, it was decided to remove the tumour completely. Based on histopathological examination the diagnosis of intravascular papillary endothelial hyperplasia (IPEH) was made. Histopathological features are discussed with regard to the possible pathogenesis.
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Sobrancelhas/patologia , Neoplasias Faciais/patologia , Neoplasias Cutâneas/patologia , Adolescente , Diagnóstico Diferencial , Humanos , MasculinoRESUMO
BACKGROUND: The main symptom of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) are upper eyelid ptosis and a slowly progressive weakness of the extraocular muscles. Mitochondrial disorders are much more frequent than previously assumed. Because of great phenotypic variability, early diagnosis may prove to be difficult. MATERIAL AND METHODS: Retrospective analysis of 30 patients with CPEO or KSS with regard to ophthalmological and neurological findings as well as molecular genetic background. RESULTS: Twenty-seven patients presented with upper eyelid ptosis as the first clinical symptom. In 11 of these patients, ptosis was either unilateral or asymmetric. External ophthalmoplegia was present in only three patients initially; however, it developed in 27 patients in the later course of the disease. Diplopia was found to be more frequent than previously assumed. Twenty-six patients showed characteristic histological hallmarks in skeletal muscle biopsy. In 22 patients, molecular genetic testing revealed mitochondrial DNA mutations. CONCLUSIONS: Mitochondrial disorders should be included in the early differential diagnosis of patients with etiologically unclear acquired isolated unilateral or bilateral ptosis, atypical eye movement disorders, or diplopia. A correct diagnosis is mandatory for qualified counseling and the management of potentially life-threatening complications, such as cardiac involvement.
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Síndrome de Kearns-Sayre/diagnóstico , Oftalmoplegia Externa Progressiva Crônica/diagnóstico , Equipe de Assistência ao Paciente , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Blefaroptose/etiologia , Criança , Deleção Cromossômica , Terapia Combinada , DNA Mitocondrial/genética , Feminino , Rearranjo Gênico/genética , Auxiliares de Audição , Humanos , Síndrome de Kearns-Sayre/genética , Síndrome de Kearns-Sayre/terapia , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Oftalmoplegia Externa Progressiva Crônica/genética , Oftalmoplegia Externa Progressiva Crônica/terapia , Marca-Passo Artificial , Mutação Puntual/genética , Polimorfismo de Fragmento de Restrição/genética , Estudos Retrospectivos , Ubiquinona/uso terapêuticoRESUMO
After proximal facial nerve lesions, misrouting of nerve fibres may cause the phenomenon of crocodile tears. Transconjunctival injections of botulinum toxin in the palpebral part of the lacrimal gland are the treatment of choice. An initial dose of 2.5 U of toxin is recommended, and injections may be repeated after 6 months if symptoms reoccur. Botulinum toxin A is also a highly effective temporary treatment for involutional (spasmodic) entropion until surgery is performed. A dose of 10 U of botulinum toxin is injected in the pretarsal part of the lower lid near the eyelashes. Botulinum toxin treatment is also effective for dysthyroid upper eye lid retraction, especially in instable thyroid disease or mild retraction. Slight transient ptosis may occur in some cases. Depending on the amount of retraction, a dose of 5 or 7.5 U of toxin is injected into the subconjunctival space at the superior margin of the tarsal plate.
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Toxinas Botulínicas Tipo A/uso terapêutico , Entrópio/tratamento farmacológico , Doenças Palpebrais/tratamento farmacológico , Oftalmopatia de Graves/tratamento farmacológico , Doenças do Aparelho Lacrimal/tratamento farmacológico , Fármacos Neuromusculares/uso terapêutico , Adulto , Idoso , Toxinas Botulínicas Tipo A/administração & dosagem , Ensaios Clínicos como Assunto , Entrópio/cirurgia , Feminino , Oftalmopatia de Graves/complicações , Humanos , Injeções , Injeções Subcutâneas , Masculino , Pessoa de Meia-Idade , Fármacos Neuromusculares/administração & dosagem , Fatores de Tempo , Resultado do TratamentoRESUMO
AIM: Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin). METHODS: Thirteen patients and seven possible carriers were characterised by mutation analysis with SSCPA and direct sequencing, clinical examination and fundus autofluorescence (AF). Electrophysiology (EOG and mfERG) and optical coherence tomography (OCT) were additionally performed whenever possible. RESULTS: We identified seven different heterozygous mutations in ten unrelated families with Best disease. I296del was the most frequent mutation. Five of nine individuals with I295del and two of three with N99K were asymptomatic carriers. One patient with I295del mutation had funduscopically unilateral Best disease. In three children (all with I295del), EOG initially showed a clearly present light peak that deteriorated during 5 years of follow-up in two of them. Increased AF corresponded well to funduscopically visible lesions. During 3-6 years of follow-up, the lesion area did not change significantly, but there were obvious changes in the inner structure of the lesion. CONCLUSION: In the present series I295del, the most frequent mutation in our study, and N99K showed reduced penetrance. EOG was normal in young patients even if prime signs were visible. The lesion area did not depend on the mutation and did not correlate with VA. Lower VA was associated with a more irregular AF pattern due to scarring or haemorrhage. Our results indicate a disease causing effect that is cumulative over time.
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Canais de Cloreto/genética , Proteínas do Olho/genética , Degeneração Macular/genética , Degeneração Macular/patologia , Mutação , Adolescente , Adulto , Bestrofinas , Criança , Análise Mutacional de DNA , Eletroculografia , Eletrorretinografia , Feminino , Fluorescência , Genótipo , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Tomografia de Coerência Óptica , Acuidade VisualAssuntos
Síndrome da Retração Ocular/diagnóstico , Exotropia/diagnóstico , Doenças do Nervo Oculomotor/diagnóstico , Adulto , Lentes de Contato , Diagnóstico Diferencial , Síndrome da Retração Ocular/cirurgia , Exotropia/cirurgia , Seguimentos , Humanos , Masculino , Músculos Oculomotores/cirurgia , Doenças do Nervo Oculomotor/cirurgia , Complicações Pós-Operatórias/diagnóstico , Acuidade VisualRESUMO
Visual field examination with fixed stimuli was first realized in manual static profile perimetry. The transition from a linear stimulus alignment along a profile section towards a two-dimensional arrangement introduced the era of static grid perimetry. Application of computer technology nowadays allows automation and standardization of this procedure, which enables the examiner to select the necessary visual field area, the adequate grid, and the optimal strategy for an estimation of differential luminance sensitivity. Furthermore, the computer independently takes over the recording, visualization, and processing of the perimetric procedure. This contribution discusses conventional static visual field examinations since these are widely used, easily accessible, well established for practical application, and standardized. This paper (part 4) explicitly focuses on the correct interpretation of automated static strategies of visual field examinations. Furthermore the classification and scoring of visual field defects as well as quality control, progression analysis, and perimetry in childhood are addressed. This manuscript is based on three preceding parts, which were published in previous issues of this journal [27, 28, 29].
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Diagnóstico por Computador/métodos , Indicadores Básicos de Saúde , Pediatria/métodos , Transtornos da Visão/diagnóstico , Testes de Campo Visual/métodos , Criança , Humanos , Padrões de Prática MédicaRESUMO
Methods for visual field examination using static strategies began with manual static profile perimetry. The transition from a linear stimulus alignment along the profile section to a two-dimensional grid arrangement introduced the era of static grid perimetry. The use of computers makes it possible to automate and standardise this process, allowing the examiner to choose the visual field area, an adequate grid and the optimal strategy, while leaving the processing, visualisation and recording completely observer-independent. This contribution is based only on conventional static procedures for visual field examination (the use of white on white perimetry) as this technique is easily accessible, standardised and well established in everyday practice.
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Diagnóstico por Computador/métodos , Transtornos da Visão/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais , Humanos , Guias de Prática Clínica como Assunto , Padrões de Prática MédicaRESUMO
PURPOSE: Continuous light increment perimetry (CLIP) is an improved testing strategy for automated static perimetry designed to save test time and enhance patient compliance. CLIP uses a modified ramp stimulus where stimulus intensity is continuously increased according to patient reaction time, starting from a subthreshold intensity until recognition. The test is constantly modified according to patient performance. As CLIP showed good results in normal subjects in previous studies, the authors now compared CLIP to the standard 4/2-full threshold (4/2) strategy in glaucoma patients. METHODS: Fifty-two patients with glaucomatous visual field defects (mean sensitivities 2.9 to 18.4 dB), all with perimetric experience, were tested with CLIP (three times) and 4/2 in a randomized fashion. Tests were performed at 55 test locations within the central 30 degree visual field (24-2 area) using the Twinfield perimeter. RESULTS: Average mean sensitivity was significantly higher for CLIP than for 4/2 (t test, p<0.0001). Absolute scotomas and extension of scotomas were comparable for both strategies, whereas CLIP found less deep relative scotomas in some cases. Mean test time was significantly shorter for CLIP (5.6 min) compared to 4/2 (8.9 min) (Wilcoxon signed rank test, p<0.0001). Patient acceptance was better for CLIP than for 4/2. CONCLUSIONS: CLIP showed comparable results to 4/2 with excellent patient acceptance. Mean sensitivities are 1.8 dB higher than for 4/2; similar results were found previously in normal subjects. CLIP was able to save a mean 38% of test time compared to full threshold strategy with good reproducibility.
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Glaucoma/diagnóstico , Escotoma/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Estimulação Luminosa , Reprodutibilidade dos Testes , Limiar Sensorial , Fatores de TempoRESUMO
PURPOSE: Visual field testing in children is always a challenge as testing is hampered by fatigue effects, easy distraction and lack of comprehension. For that reason new testing strategies for automated perimetry have mainly been evaluated on adults. We tested the feasibility and outcome of automated static perimetry in children in a standard clinical setting. METHODS: Twenty-eight children aged 5-14 years were examined at the Twinfield perimeter, including healthy children, children with unilateral pathologies (normal eye tested) and children with strabismus. Fast threshold strategy (FT) and continuous light increment perimetry (CLIP) strategy were used in a randomized order. One eye per subject was examined and each test was performed twice. RESULTS: Reliable results were obtained in many children starting from the age of 8 years. In children aged 13 years and over, adult testing strategies were possible in most cases with good reproducibility. No significant difference was found between the children with strabismus and the other children. Mean sensitivity (MS) increased and fixation losses decreased as a function of age. Continuous light increment perimetry showed a lower number of abnormal fields and fewer false-positive errors compared to FT. CONCLUSION: Automated static perimetry is possible in many children in a clinical setting using a commercially available Twinfield perimeter in a session of clinically practical duration. Test performance was not only dependent on age, but also on the child's maturity and ability to concentrate. Especially in children up to the age of 8 years, testing with the ramp stimulus (CLIP) was easier than with a staircase strategy (FT).
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Testes de Campo Visual/métodos , Campos Visuais , Adolescente , Criança , Pré-Escolar , Oftalmopatias/complicações , Estudos de Viabilidade , Feminino , Humanos , Luz , Masculino , Avaliação de Resultados em Cuidados de Saúde , Erros de Refração/complicações , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estrabismo/complicaçõesRESUMO
BACKGROUND: Duane retraction syndrome (DURS) accounts for 1 - 4 % of all cases of strabismus. Approximately 90 % of the cases are sporadic with a preponderance for females and the left eye. Many associated ocular and systemic findings have been described. Recently, mutations of SALL4 have been found in patients with autosomal-dominantly inherited Okihiro syndrome (DURS associated with forearm malformations). The aim of this study was the clinical examination of patients with isolated sporadic DURS and the molecular genetic analysis of SALL4 in these patients. SUBJECTS AND METHODS: Twenty-five patients with non-familial DURS (aged 1 - 75 years, 16 female, 9male) were examined clinically and were interviewed concerning associated pathologies. DNA was prepared from peripheral lymphocytes, and the complete coding region of SALL4 was sequenced. RESULTS: In 18 patients DURS affected the left eye, in four the right eye, and was bilateral in three patients. One patient had fused vertebrae, one had a cone-rod-dystrophy. No hearing impairments or malformation of the upper limbs were observed. No mutation in the coding region of SALL4 could be detected. DISCUSSION: Associated conditions in DURS patients most commonly involve the ear, the spinal column, the kidneys and the heart and the upper limbs. No mutations in SALL4 could be detected in patients with isolated sporadic DURS as opposed to findings in familial Okihiro syndrome. However, Okihiro syndrome shows marked intra- and interfamilial variability, suggesting that in rare cases of isolated DURS a causative SALL4 mutation may be found.
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Síndrome da Retração Ocular/genética , Síndrome da Retração Ocular/metabolismo , Fatores de Transcrição/genética , Síndrome da Retração Ocular/diagnóstico , Feminino , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Humanos , MasculinoAssuntos
Síndrome da Retração Ocular/genética , Mutação , Fatores de Transcrição/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Because kinetic perimetry is performed manually, it is difficult to standardize. This study evaluated the effect of different velocities of various stimuli on the results of automated kinetic perimetry. MATERIALS AND METHODS: Twelve ophthalmologically healthy subjects were tested with stimuli III4, I4, I2, I1 using the Twinfield perimeter at velocities of 1-7 degrees/s. RESULTS: Results of stimuli III4 and I4 were not dependent on velocity. Concerning stimuli I2 and especially I1 the isopters were narrower for increasing velocity, and variance in results was greater above 4 degrees/s. CONCLUSION: The recommended velocity of 2 degrees/s is often exceeded in daily clinical practice, which explains part of the variation in findings between studies. Automated kinetic perimetry could ensure a constant, slower velocity and thus improve standardization.
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Testes de Campo Visual/métodos , Humanos , Cinética , Valores de Referência , Fatores de Tempo , Testes de Campo Visual/instrumentação , Testes de Campo Visual/normasRESUMO
BACKGROUND: The differential diagnosis of painless orbital swelling is complex and based on radiological and physical examination as well as laboratory tests. Due to increasing tourism to exotic countries a thorough history is important to observe diseases which are rare in industrialised countries but frequent in developing countries. PATIENT: A 30-year-old man complained about a painless orbital swelling in the absence of general symptoms. Orbital examination revealed a normal globe. MRI scan and B-scan ultrasounds showed an orbital cyst with a diameter of 1 cm. The patient's history disclosed lengthy travel to India as well as South East Asia. RESULTS: Histopathological examinations following excision of a whitish intraorbital mass showed a cream-white, thin walled cyst with a single central invaginated scolex with suckers and hooklets. This finding is characteristic for cysticercosis. CONCLUSIONS: Cysticercus cellulose is the larval stage of the pork tapeworm Taenia solium. It is transmitted by ingestion of contaminated food or water. Ocular affection is reported concerning the vitreous or subretinal localisation, less often in the anterior segment, subconjunctiva or orbita. Especially after trips to tropical regions, parasitic diseases should be kept in mind when dealing with unusual eye symptoms. Besides cysticercosis there are e.g. echinococcosis, onchocercosis (river blindness) and infections with toxocara or Loa loa.