Choroidal metastasis from breast carcinoma

OBJECTIVE: To report a case of intraocular metastasis from breast carcinoma. CLINICAL PRESENTATION AND INTERVENTION: A 54-year-old woman diagnosed with multifocal ductal adenocarcinoma, grade III, of the left breast presented with blurred vision of the left eye. Funduscopy under pupil dilation in the left eye revealed a plateau-shaped, yellow choroidal focus measuring 4 optic disc diameters and located 3 optic disc diameters below the fovea. The patient was treated with two cycles of docetaxel and capecitabine. One month later the patient's visual acuity improved. Funduscopy confirmed reduction of oedema. CONCLUSION: This case shows that impaired vision can be an alarming symptom in a breast cancer patient and a description is given of the morphological features that could help in recognizing the smallest detectable breast cancer metastasis.Med Princ Prac

Intravitreal dirofilariasis: a rare ocular infection

Human ocular dirofilariasis is a zoonotic disease, rare in Europe, caused by filarial nematodes. The parasite is either encysted in a subcutaneous nodule or located under the bulbar conjunctiva. We report the case of a 62-year-old man with intravitreal dirofilariasis, which is a rare site of presentation of the nematode in the human eye. It was located in the fundus area and was surgically removed. The nematode was identified as Dirofilaria repens (D. conjuctiva) by two different Microbiology Departments, making this the fifth report of identified intravitreal dirofilariasis caused by D. repens in the relative literature.Orbi

Breast carcinoma metastasis to the orbit and paranasal sinuses: a case report

This is the case of a 34 years old female patient, with known history of disseminated, invasive, ductal adenocarcinoma, grade II, of the left breast, who presented with two distinct localizations of metastasis affecting the orbits. One in the right orbit and a second one in the frontal sinuses, the latter infiltrating the cognate ethmoid, exerting pressure on the inner wall of the left orbit. We present the symptoms, the ophthalmic signs and the imaging techniques that aided the localization of these metastasis, while literature review shows that such combination is rare.Exp Onco

Orbital cavernous hemangioma in an infant with intracranial lesions: a case report

INTRODUCTION: Cavernous hemangiomas of the orbit are benign vascular malformations, commonly encountered in adults. Although they are infrequent in pediatric population their diagnosis and course are of a great significance, mainly because they can cause visual disturbances such as amblyopia that can ensue, and secondarily due to their cosmetic and psychological effect. Special attention is required in follow up and treatment. Additionally, a systemic evaluation is necessary in order to discover asymptomatic lesions elsewhere in the body carrying a risk of complications. CASE PRESENTATION: The authors describe the clinical course, diagnosis, therapeutic approach and prognosis of an infant with an orbital cavernous hemangioma accompanying intracranial lesions. A female infant 18 months of age, presented with a mass in the left upper eyelid, causing blepharoptosis. Preoperative magnetic resonance imaging and angiography of the brain and the orbits showed a hemangioma of the left upper eyelid and intracranial lesions to the left temporal fossa and the pons. At the age of 2 years and 8 months she was admitted again due to severe eyelid swelling, intense strong pain, exophthalmos and collateral ophthalmoplegia. Two operations were performed to remove the orbit mass. Histological examination, showed characteristics of cavernous hemangioma. CONCLUSION: The atypical presentation of cavernous orbital hemangioma with early infantile onset, merits attention.Cases

Primary mantle cell lymphoma of the conjunctiva: a case report

Primary non-Hodgkin's lymphomas of the conjunctiva are uncommon. They are almost exclusively extranodal marginal zone B-cell lymphomas/mucosa-associated lymphoid tissue lymphomas. In this study, we report an extremely rare case of conjunctival mantle cell lymphoma in a 78-year-old man, presenting as a unilateral epibulbar mass.Virchows Arc

Orbital metastasis from verrucous carcinoma of the oral cavity: case report and review of the literature

A rare case of metastatic verrucous carcinoma (VC) of the oral cavity is presented. The patient was referred to the Ophthalmology Department due to diplopia. The patient reported history of diagnosis of verrucous squamous carcinoma in the oral cavity occuring 6 years earlier that although excised presented several recurrences. The lesion metastasized to local lymph nodes and after being characterized as inoperable the patient underwent thirty-seven sessions of radiation therapy. Two months after completion of radiation therapy, the patient underwent an orbital CT scan that revealed a mass with morphological features consistent with secondary involvement of the orbit from the known VC. Although treated with chemotherapy, the patient died 5 months later. No other case of this entity, which usually presents as a slow-growing lesion enlarging with direct extension rather than frank invasion, metastasizing to the orbit has been reported in relevant literature.In Viv

Protein Z Plasma Levels are Not Elevated in Patients with Non-Arteritic Anterior Ischemic Optic Neuropathy

BACKGROUND: Protein Z is a glycoprotein that acts as a co-factor for the inhibition of activated coagulation factor X. Protein Z circulating in abnormal levels has been associated with increased risk for acute ischemic events. Non-arteritic Anterior Ischemic Optic Neuropathy (N-AION) is caused by acute ischemic infarction of the optic nerve head, supplied by the posterior ciliary arteries. OBJECTIVES: The aim was to investigate whether there is an association between N-AION and plasma protein Z levels. PATIENTS AND METHODS: Twenty-six cases of confirmed N-AION and fifty-two controls were included in the study group. Protein Z was estimated in thawed citrate plasma on both N-AION cases and controls by an enzyme immunoassay. The imprecision of the estimation was satisfactory (CV = 4, 6%). RESULTS: The controls' protein Z values distributed within a range 340 to 4200 ng/ml (median = 1420, mean = 1673, SD = 1040 ng/ml). Patients' protein Z values distributed within a range 420 to 3600 ng/ml (median = 1030, mean = 1520, SD = 939 ng/ml). There was no statistical difference between the two distributions (Independent t-test, p=0.529). CONCLUSION: In our study, protein Z levels are not implicated in the pathogenesis of non-arteritic anterior ischemic optic neuropathy (N-AION).Open Ophthalmol

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

OBJECTIVE: To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family. METHODS: 26 members of a single family underwent clinical examinations and venepuncture. A genomewide linkage scan using 400 microsatellite markers distributed with an average spacing of 10 cM throughout the human genome. RESULTS: 14 members of the study family exhibited clinical features of the disease including decreased central vision and macular abnormalities in the posterior pole of the retina. Analysis of loci known to be associated with macular dystrophy did not show positive linkage. A genomewide linkage scan showed linkage to chromosome 19q, with a two-point maximum LOD score of 5.809 at theta = 0 between the disease and marker locus D19S412. On the basis of recombination events, the disease interval was localised between markers D19S420 and D19S540 on chromosome 19q, at a span of about 3.8 cM, in an area known to contain 120 known genes/transcripts. Eleven of these genes/transcripts were sequenced, and no disease-causing mutation was identified. CONCLUSIONS: This study describes a new locus on 19q associated with autosomal-dominant macular dystrophy, designated as MCDR5. Additional study of other family members will be necessary to further narrow the interval and identify the responsible gene. The study of MCDR5 will aid in elucidation of the underlying pathogenic mechanisms for this and other macular diseases, including age-related macular degeneration.J Med Gene