RESUMEN
PURPOSE: Orbicularis weakness is commonly associated with seventh nerve palsy or neuromuscular and myopathic conditions such as myotonic dystrophy and myasethenia gravis. We report four cases of idiopathic isolated orbicularis weakness. METHODS: All four cases were female and the presenting symptoms of ocular irritation and epiphora had been present for over 7 years in three patients. All patients had lagophthalmos and three had ectropion. Three patients underwent full investigations which excluded known causes of orbicularis weakness. Two patients underwent oribularis oculi muscle biopsy and histological confirmation of orbicularis atrophy. RESULTS: All patients underwent surgery to specifically address the orbicularis weakness with satisfactory outcomes and alleviation of symptoms in all cases. Isolated orbicularis weakness may be a relatively common entity that is frequently overlooked. CONCLUSION: Early recognition of this condition may lead to better management and prevent patients undergoing unnecessary surgical procedures.
Asunto(s)
Enfermedades de los Párpados/diagnóstico , Debilidad Muscular/diagnóstico , Músculos Oculomotores/patología , Anciano , Anciano de 80 o más Años , Atrofia , Biopsia , Enfermedades de los Párpados/cirugía , Femenino , Humanos , Debilidad Muscular/cirugía , Procedimientos Quirúrgicos OftalmológicosRESUMEN
Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause malignant hyperthermia susceptibility. We describe nine affected members of an extended family presenting with a myopathy typically manifesting as upper eye lid ptosis, quadriceps atrophy and patellar dislocation. Three affected members underwent extensive genetic testing and have a RYR1 exon 46 c.7354C>T gene mutation; two of whom had muscle biopsies--both demonstrated central core myopathy. The only affected family member who underwent testing for malignant hyperthermia susceptibility was shown to be positive. The clinical phenotypes seen among affected family members varies widely in severity, and have features in common with those congenital myopathies associated with malignant hyperthermia susceptibility, raising the possibility that these conditions represent a spectrum of disease.
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Predisposición Genética a la Enfermedad/genética , Hipertermia Maligna/genética , Músculo Esquelético/patología , Miopatía del Núcleo Central/genética , Miopatía del Núcleo Central/patología , Canal Liberador de Calcio Receptor de Rianodina/genética , Adolescente , Adulto , Blefaroptosis/genética , Femenino , Genotipo , Humanos , Masculino , Hipertermia Maligna/complicaciones , Hipertermia Maligna/patología , Atrofia Muscular/complicaciones , Atrofia Muscular/genética , Atrofia Muscular/patología , Miopatía del Núcleo Central/complicaciones , Luxación de la Rótula/genética , Linaje , Fenotipo , Músculo Cuádriceps/patología , Canal Liberador de Calcio Receptor de Rianodina/deficienciaRESUMEN
We present a case report of necrobiotic xanthogranuloma (NXG) in a 76-year-old Caucasian lady occurring as a nodule in a blepharoplasty scar. NXG is a rare histiocytic disease with progressive orbital and systemic features. Management options of excision biopsy or chemotherapy are discussed.
Asunto(s)
Cicatriz Hipertrófica/patología , Enfermedades de los Párpados/patología , Granuloma/patología , Trastornos Necrobióticos/patología , Enfermedades Orbitales/patología , Xantomatosis/patología , Anciano , Biopsia con Aguja , Cicatriz Hipertrófica/complicaciones , Quimioterapia Combinada , Enfermedades de los Párpados/diagnóstico , Enfermedades de los Párpados/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Granuloma/diagnóstico , Granuloma/cirugía , Humanos , Inmunohistoquímica , Melfalán/administración & dosificación , Trastornos Necrobióticos/diagnóstico , Trastornos Necrobióticos/cirugía , Enfermedades Orbitales/diagnóstico , Enfermedades Orbitales/cirugía , Prednisolona/administración & dosificación , Recurrencia , Medición de Riesgo , Resultado del Tratamiento , Xantomatosis/diagnóstico , Xantomatosis/cirugíaRESUMEN
PURPOSE: To describe the case of a man presenting with intermittent epiphora of the right eye and a low grade dacryocystitis due to a dacryolith. METHODS/RESULTS: He was treated conservatively and was offered a Dacryocystorhinostomy. A few weeks before surgery, he developed swelling and pain over the right medial canthus followed by violent sneezing with spontaneous extrusion of the dacryolith. DISCUSSION: The authors propose that the dacryolith fragmented spontaneously and once it reached the nasal cavity, was expelled by violent sneezing to the nostril, a mechanism not previously reported. CONCLUSIONS: Reformation of dacryolith is a likely possibility, and recurrence of symptoms in such cases may ultimately require a Dacryocystorhinostomy.
Asunto(s)
Cálculos/terapia , Enfermedades del Aparato Lagrimal/terapia , Estornudo , Cálculos/complicaciones , Humanos , Enfermedades del Aparato Lagrimal/etiología , Masculino , Persona de Mediana Edad , Conducto Nasolagrimal/patologíaRESUMEN
PURPOSE: To describe the case of a man presenting with intermittent epiphora of the right eye and a low grade dacryocystitis due to a dacryolith. METHODS/RESULTS: He was treated conservatively and was offered a Dacryocystorhinostomy. A few weeks before surgery, he developed swelling and pain over the right medial canthus followed by violent sneezing with spontaneous extrusion of the dacryolith. DISCUSSION: The authors propose that the dacryolith fragmented spontaneously and once it reached the nasal cavity, was expelled by violent sneezing to the nostril, a mechanism not previously reported. CONCLUSIONS: Reformation of dacryolith is a likely possibility, and recurrence of symptoms in such cases may ultimately require a Dacryocystorhinostomy. (Eur J Ophthalmol 2006; 16: 161-3).
RESUMEN
PURPOSE: To illustrate the use of Colour Doppler Ultrasonography to aid the differential diagnosis of orbital masses in neonates. METHODS: Three cases are reported of neonates presenting with undiagnosed orbital masses as isolated findings, causing lid swelling and proptosis and prompting a differential diagnosis of an orbital vascular lesion, rhabdomyosarcoma or other tumour. Colour Doppler Ultrasonography in expert hands using a small footprint linear 10-5 transducer proved an atraumatic, rapid and accurate way of confirming a vascular lesion at the first clinic visit. This reassured the family and ophthalmologist alike, and obviated the need for biopsy or cross sectional imaging requiring anaesthetic. All three lesions were orbital capillary haemangiomas with characteristic ultrasonographic findings. RESULTS: Illustrations are provided to illustrate the features of the capillary haemangiomas when visualised with Colour Doppler Ultrasonography. CONCLUSIONS: The use of ultrasonography in very young infants can help exclude malignancy, without the need for cross sectional imaging or biopsy under anaesthetic. However, close observation remains mandatory. Repeat scanning is easily performed with no adverse effects, in potential contrast to other imaging modalities.
Asunto(s)
Hemangioma Capilar/diagnóstico por imagen , Enfermedades Orbitales/diagnóstico por imagen , Ultrasonografía Doppler en Color , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Masculino , Neoplasias Orbitales/diagnóstico por imagenRESUMEN
PURPOSE: The 10-diopter (D) fixation test is a useful test for detecting amblyopia in children without a manifest deviation and in whom a reliable visual acuity assessment is difficult. The 10 prism diopter is conventionally placed base down. METHODS: Seventeen children were studied over a 12-month period to determine the effect of prism orientation on the accuracy of the 10-D fixation test in children with unilateral ptosis. RESULTS: Anomalous results were obtained in 4 of 17 patients with the prism held base up and base down. CONCLUSIONS: To prevent an erroneous diagnosis of amblyopia in children with unilateral ptosis, the prism should be held base up when performing the 10-D fixation test.
Asunto(s)
Ambliopía/diagnóstico , Blefaroptosis/congénito , Fijación Ocular , Pruebas de Visión/métodos , Ambliopía/complicaciones , Niño , Preescolar , Diagnóstico Diferencial , Humanos , Lactante , Reproducibilidad de los Resultados , Agudeza VisualRESUMEN
AIMS: To assess the effectiveness of enucleation or evisceration in relieving pain from painful blind eyes. METHODS: 24 patients with intractable ocular pain underwent enucleation or evisceration with or without an orbital implant. RESULTS: Complete pain relief was achieved in all patients at an average time of 3 months (range 1-15 months). Seven patients required further medical or surgical treatment in addition to removal of the globe. CONCLUSION: Enucleation and evisceration were effective in relieving ocular pain in all patients with a painful blind eye in our study. However, complications of surgery and orbital implants can cause recurrent pain.
Asunto(s)
Oftalmopatías/cirugía , Enucleación del Ojo , Evisceración del Ojo , Dolor/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Ceguera/complicaciones , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Dolor/etiología , Resultado del TratamientoRESUMEN
A study of the histochemical staining of levator palpebrae superioris (LPS) was undertaken to measure the muscle fibre size in normal individuals and in patients with congenital dystrophic ptosis in order to see whether there is an alteration in muscle fibre size in congenital ptosis. Eight LPS specimens were obtained: 4 from normal patients (3 from normal levator divided in a bilateral brow suspension procedure and 1 from an exenteration specimen) and 4 from levator resection procedures for treatment of unilateral congenital ptosis. Cryostat sections from these specimens were stained histochemically to reveal muscle fibre types. The orthogonal diameters were measuring using a computer-generated program and the two groups compared using the Mann-Whitney mu-test. No statistically significant difference in muscle fibre diameter was found between normals and patients with congenital ptosis. There was also no change in the distribution or range of muscle fibre diameter in patients with congenital ptosis. Our findings do not support the classification of congenital ptosis as a dystrophy.
Asunto(s)
Blefaroptosis/congénito , Blefaroptosis/patología , Párpados/patología , Fibras Musculares Esqueléticas/patología , Anciano , Niño , Preescolar , Humanos , Coloración y Etiquetado/métodosAsunto(s)
Hemangioma/patología , Enfermedades del Aparato Lagrimal/patología , Anciano , Femenino , HumanosRESUMEN
BACKGROUND: Levator transposition is used as a unilateral procedure for patients with both ptosis and aberrant movements of the eyelid. Muscular neurotisation occurs in the transposed levator muscle and thus some levator function is restored. METHOD: We reviewed 35 patients who had undergone a levator transposition procedure. RESULTS: Twenty-eight patients had jaw-winking ptosis, three had cyclic oculomotor palsy and four had a third nerve palsy with aberrant regeneration. The follow-up period was between 1 and 39 months (mean 12 months). Eighteen patients were followed up for at least 12 months and their results were analysed as a separate group. CONCLUSIONS: The levator function attained following transposition is related to the pre-operative voluntary function and this relationship is statistically significant (Wilcoxon test p < 0.001). Maximal levator function may not be achieved until 12 months post-operatively. The procedure is successful in abolishing aberrant eyelid movements and treating ptosis but the majority of patients require an additional levator resection to achieve a satisfactory lid height.