ABSTRACT
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.
Subject(s)
Adenocarcinoma , Lacrimal Apparatus Diseases , Lacrimal Apparatus , Salivary Gland Neoplasms , Humans , Lacrimal Apparatus/pathology , Adenocarcinoma/pathology , Trastuzumab/therapeutic use , Lacrimal Apparatus Diseases/pathology , Salivary Gland Neoplasms/pathology , Salivary Glands/pathologySubject(s)
Alcohol Abstinence , Erythrocyte Indices , Optic Atrophy, Hereditary, Leber/blood , Vision Disorders/blood , Alcoholism/blood , Alcoholism/diagnosis , Humans , Optic Atrophy, Hereditary, Leber/physiopathology , Vision Disorders/physiopathology , Vitamin B 12 Deficiency/blood , Vitamin B 12 Deficiency/diagnosisSubject(s)
Ethanol/adverse effects , Optic Atrophy, Hereditary, Leber/physiopathology , Retina/physiopathology , Substance Withdrawal Syndrome/physiopathology , Vision Disorders/physiopathology , Adult , DNA, Mitochondrial/genetics , Electroretinography , Evoked Potentials, Visual , Fluorescein Angiography , Humans , Intraocular Pressure/physiology , Male , Optic Atrophy, Hereditary, Leber/chemically induced , Optic Atrophy, Hereditary, Leber/genetics , Vision Disorders/chemically induced , Vision Disorders/genetics , Visual Acuity/physiologyABSTRACT
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.
Subject(s)
Macular Degeneration , Humans , Macular Degeneration/diagnosis , Macular Degeneration/etiology , Macular Degeneration/prevention & control , Macular Degeneration/therapyABSTRACT
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.
Subject(s)
Glaucoma, Angle-Closure/etiology , Iris/surgery , Lens Capsule, Crystalline/surgery , Lens Subluxation/surgery , Myopia/surgery , Phacoemulsification/instrumentation , Aged , Equipment Design , Female , Follow-Up Studies , Glaucoma, Angle-Closure/surgery , Humans , Intraocular Pressure , Lens Subluxation/complications , Myopia/complications , Myopia/physiopathology , Refraction, Ocular , Severity of Illness Index , Visual AcuityABSTRACT
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.
Subject(s)
Choroid Neoplasms/radiotherapy , Melanoma/radiotherapy , Neoplasm Recurrence, Local/radiotherapy , Neoplasms, Radiation-Induced/etiology , Orbital Neoplasms/etiology , Osteosarcoma/etiology , Choroid Neoplasms/surgery , Eye Enucleation , Fatal Outcome , Female , Humans , Melanoma/surgery , Middle Aged , Neoplasms, Radiation-Induced/diagnostic imaging , Orbital Neoplasms/diagnostic imaging , Osteosarcoma/diagnostic imaging , Radiotherapy, High-Energy/adverse effects , Tomography, X-Ray ComputedABSTRACT
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.
