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1.
BMJ Case Rep ; 16(6)2023 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-37399351

RESUMEN

In this report, we present a case of a patient with a 30-year history of orbital asymmetry who presented with metastatic human epidermal growth factor receptor 2 (HER2) positive lacrimal/salivary gland ductal adenocarcinoma. The patient was treated with chemoradiotherapy and trastuzumab. Tumours of lacrimal gland origin are rare, and unfortunately can frequently present in late stage. There are no current guidelines on the optimal treatment of metastatic lacrimal gland tumours, in particular those with HER2 amplified malignancy. This case highlights a unique presentation of a rare disease, and the potential for targeted therapy.


Asunto(s)
Adenocarcinoma , Enfermedades del Aparato Lagrimal , Aparato Lagrimal , Neoplasias de las Glándulas Salivales , Humanos , Aparato Lagrimal/patología , Adenocarcinoma/patología , Trastuzumab/uso terapéutico , Enfermedades del Aparato Lagrimal/patología , Neoplasias de las Glándulas Salivales/patología , Glándulas Salivales/patología
4.
Postgrad Med J ; 83(979): 301-7, 2007 May.
Artículo en Inglés | MEDLINE | ID: mdl-17488857

RESUMEN

Age-related macular degeneration (AMD) is the commonest cause of blindness in the population over 60 years of age and accounts for over 50% of those registered blind in the UK. The incidence is increasing and as older generations live longer a growing number of patients will be affected in the future. Affected patients lose central vision, important in all aspects of everyday life. This review outlines risk factors for AMD, clinical features, treatment and management strategies for patients, families and physicians caring for those with AMD. Recent trials are included along with practical clinical advice. While there is no curative treatment at present, intervention can reduce the risk of developing AMD and limit disease progression if it occurs. These modalities are discussed here. As new discoveries in the field of genetics and novel therapies emerge, a brighter future seems certain for the ageing population.


Asunto(s)
Degeneración Macular , Humanos , Degeneración Macular/diagnóstico , Degeneración Macular/etiología , Degeneración Macular/prevención & control , Degeneración Macular/terapia
5.
Indian J Ophthalmol ; 54(4): 267-9, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17090880

RESUMEN

We report an unusual case of angle closure glaucoma in a 78-year-old highly myopic female patient. The patient did not show any preoperative signs of subluxation of lens. However, the capsular bag was noted to be unstable during surgery. The patient was managed with phacoemulsification of lens using a novel method of iris hooks for stabilization of capsular bag during surgery.


Asunto(s)
Glaucoma de Ángulo Cerrado/etiología , Iris/cirugía , Cápsula del Cristalino/cirugía , Subluxación del Cristalino/cirugía , Miopía/cirugía , Facoemulsificación/instrumentación , Anciano , Diseño de Equipo , Femenino , Estudios de Seguimiento , Glaucoma de Ángulo Cerrado/cirugía , Humanos , Presión Intraocular , Subluxación del Cristalino/complicaciones , Miopía/complicaciones , Miopía/fisiopatología , Refracción Ocular , Índice de Severidad de la Enfermedad , Agudeza Visual
6.
Ophthalmic Plast Reconstr Surg ; 22(4): 301-2, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16855507

RESUMEN

A 59-year-old woman underwent enucleation for choroidal melanoma. She had a late recurrence of the melanoma, which was treated with surgery and radiotherapy. Nine years after radiation treatment, she presented with pain and an orbital mass. Biopsy of the mass revealed an osteoblastic osteosarcoma. This report describes the late recurrence of choroidal melanoma and subsequent radiation-induced osteosarcoma. The risk of radiation-induced malignancy should be considered in all patients receiving radiotherapy. Despite yearly review, osteosarcoma was diagnosed only when the patient had symptoms, thus raising questions about the merits of long-term follow-up in detecting recurrence or emergence of secondary tumors.


Asunto(s)
Neoplasias de la Coroides/radioterapia , Melanoma/radioterapia , Recurrencia Local de Neoplasia/radioterapia , Neoplasias Inducidas por Radiación/etiología , Neoplasias Orbitales/etiología , Osteosarcoma/etiología , Neoplasias de la Coroides/cirugía , Enucleación del Ojo , Resultado Fatal , Femenino , Humanos , Melanoma/cirugía , Persona de Mediana Edad , Neoplasias Inducidas por Radiación/diagnóstico por imagen , Neoplasias Orbitales/diagnóstico por imagen , Osteosarcoma/diagnóstico por imagen , Radioterapia de Alta Energía/efectos adversos , Tomografía Computarizada por Rayos X
7.
Am J Ophthalmol ; 140(6): 1127-9, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16376663

RESUMEN

PURPOSE: We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD). DESIGN: The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings. METHODS: Family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. Genetic testing for the C1QTNF5 mutation was carried out. RESULTS: In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss. CONCLUSIONS: Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.


Asunto(s)
Colágeno/genética , Iris/patología , Enfermedades del Cristalino/genética , Ligamentos/patología , Mutación , Degeneración Retiniana/genética , Atrofia , Análisis Mutacional de ADN , Adaptación a la Oscuridad , Femenino , Humanos , Enfermedades del Cristalino/diagnóstico , Masculino , Persona de Mediana Edad , Degeneración Retiniana/diagnóstico , Agudeza Visual , Campos Visuales
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