Cases reported "Eye Neoplasms"

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1/1134. Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.

    Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral (multifocal) cases are often familial. Sporadic bilateral Rb associated with a long-arm deletion of a D-group chromosome has been reported in 8 children. We have studied a 6-year-old female with bilateral sporadic retinoblastoma, treated during infancy by enucleation and radiotherapy. chromosome banding studies on peripheral lymphocytes revealed an interstitial deletion from the long arm of a chromosome 13: del(13) (q12q14). Three additional patients reported in the literature had interstitial 13q- deletions, involving slightly different though overlapping regions. The only chromosomal region consistently missing in all of these 4 cases appears to be part of the lightly staining band 13q14. We, therefore, propose this site as the precise location of a gene (or genes) involved in retinal development. Our patient lacked features of the classic 13q- or 13-ring syndrome, which involves deletion of a more distal portion of the 13 long arm. When compared to reported patients with Rb and 13q-, it became apparent that there may be a separate recognizable syndrome consisting of moderate growth and developmental delay, characteristic facies and external ears, and bilateral sporadic Rb, which is associated with an interstitial 13q- deletion. ( info)

2/1134. Iridocorneal melanoma associated with type 1 neurofibromatosis: a clinicopathologic study.

    OBJECTIVE: A clinicopathologic study of an iridocorneal melanoma associated with type 1 (peripheral) neurofibromatosis is presented. DESIGN: Case report with clinicopathologic correlation. PARTICIPANT: A 32-year-old white woman with type 1 neurofibromatosis presented with long-standing blindness of her right eye due to diffuse intrastromal brown corneal discoloration. INTERVENTION: The patient underwent penetrating keratoplasty and the corneal button was inspected. RESULTS: Histopathologic evaluation of the corneal button after penetrating keratoplasty revealed an intrastromal mixed-type malignant melanoma, which stained positively with HMB-45 and S-100 protein and spared the corneal epithelium and limbus. The corneal graft remained transparent, with best-corrected visual acuity of 20/30. Twenty-two months after surgery, the tumor involved the anterior chamber angle and the iris. Three years later, it caused refractory glaucoma necessitating enucleation. The iris tumor did not extend beyond the iris-lens diaphragm and showed the same cytologic features as the corneal stromal tumor. CONCLUSION: To our best knowledge, this is the first report of iridocorneal melanoma associated with peripheral neurofibromatosis. The location of the tumor in the deep corneal stroma, without initial macroscopic involvement of the angle or iris, may suggest that the corneal portion of the tumor may have developed "in situ" rather than as an extension of iris melanoma. The common origin of melanoma cells and schwann cells from the neural crest and the proliferation of the schwann cells in neurofibromatosis provides additional support for this hypothesis. ( info)

3/1134. Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.

    Ten members of a large family who showed manifestations of either von hippel-lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases. ( info)

4/1134. Lymphoid lesions of the conjunctiva: relation of histopathology to clinical outcome.

    A retrospective clinicopathologic study of 40 patients with lymphoid lesions of the conjunctiva demonstrated the validity of current histologic criteria in predicting clinical outcome. overall histologic architecture as well as cytologic detail must be used to differentiate benign reactive lymphoid hyperplasia from lymphoma. Lesions verified clinically as being malignant had obvious malignant cytologic features. Clinical signs of surface follicularity, multifocality, and minimal elevation suggest benignancy. All the benign lesions, on histopathologic examination, were either follicular in architecture or composed of mature lymphocytes, and were generally restricted to the substantia propria. Bilaterality and clinical recurrence do not necessarily imply a malignant disease. ( info)

5/1134. A case of medulloepithelioma of the left eye.

    The case of a 12 year old male patient with a diagnosis of medulloepithelioma of the ciliary body is reported. The difficulties in reaching diagnosis and management are discussed. The importance of keeping such a rare disease in mind is stressed. ( info)

6/1134. Malignant melanoma of the choroid in neurofibromatosis.

    A 60-year-old white woman with generalized neurofibromatosis and multiple melanocytic hamartomas of the iris developed an unusual choroidal mass, with secondary sensory retinal separation in the left eye. Ophthalmoscopically the tumor had a peculiar donut configuration that was caused by a large focus of central necrosis within a spindle B melanoma. ( info)

7/1134. listeria monocytogenes endophthalmitis with a black hypopyon.

    A 68-year-old woman had a marked decrease in visual acuity, increased intraocular pressure, and acute iridocyclitis. She developed a pigmented hypopyon simulating an occult intraocular melanoma. Two anterior chamber paracenteses showed growth of listeria monocytogenes. The patient received systemic intravenous penicillin, topical fortified gentamicin sulfate drops, and intraocular injections of cephaloridine. On discharge from the hospital after a two-week stay, visual acuity had improved and intraocular pressure had decreased. ( info)

8/1134. A case of prostatic cancer metastasizing to the orbit.

    PURPOSE: We report on a case of prostatic cancer with multiple bone metastases, including right orbital involvement. methods/RESULTS: Hormonal treatment and local irradiation to the right orbit were performed. Subjective symptoms with exophthalmos and pain disappeared. CONCLUSIONS: We report on a case of prostatic cancer metastasizing to the right orbital bone. ( info)

9/1134. angiomatosis retinae. An ultrastructural study and lipid analysis.

    A nonfamilial case of agiomatosis retinae (retinal hemangioblastoma) was studied by electron microscopy. In addition to the three major types of cells previously identified within the tumor (endothelial cells, pericytes, heavily lipidized stromal cells), fibrous astrocytes in different stages of lipidization were also found. The endothelial cells were fenestrated, providing the basis for the extravasated exudate that is characteristic of the tumor. The pericytes were completely surrounded by casement membranes and displayed no significant lipidization; in a cellular plaque of vasular tissue at the base of the lesion, however, some of the multilaminar pericytes showed evidence of early smooth muscle differentiation. The stromal cells contained abundant lipid vacuoles and a few organelles, and exhibited granular degeneration of cytoplasmic filaments between the lipid vacuoles. There was spotty basement membrane formation where the stromal cells abutted on the vascular elements. No interconversion could be demonstrated among the endothelial cells, pericytes, and stromal cells. A source for the stromal cells was discovered in the early lipisization of fibrous astrocytes. Analysis of the extracted lipid from the tumor by means of infrared spectroscopy, lipid chromatography, and x-ray diffraction disclosed that the lipid was mostly cholestrol stearate, a plasma lipid. It is suggested that in the retinal lesions the leaky (fenestrated) capillaries of the tumor allowed the passive imbibition of plasma lipid by the fibrous astrocytes, leading to their gradual transformation into the fully lipidized stromal cells. ( info)

10/1134. blindness as a consequence of a paraneoplastic syndrome in a woman with clear cell carcinoma of the ovary.

    BACKGROUND: paraneoplastic syndromes are rare conditions associated with cancer that result in serious disease states at unique sites. In 1982, a report of bilateral diffuse uveal melanocytic proliferation associated with nonocular cancers which resulted in blindness was reported. We present a case of a woman with recurrent ovarian cancer who developed this paraneoplastic syndrome. CASE: A 55-year-old woman had been diagnosed in 1990 with an ocular melanoma of her right eye and in 1994 with clear cell carcinoma of the ovary. With recurrence of ovarian cancer, new eye lesions were identified in both eyes. After enulcleation of her right eye, an ocular melanoma and diffuse bilateral melanocytic proliferation (BDUMP) were found. The sight in her left eye continued to deteriorate as other signs of BDUMP occurred in the eye. Within 1 month of diagnosis, the patient was blind. She subsequently succumbed to progression of ovarian cancer. CONCLUSION: Recurrent ovarian cancer is usually an intraabdominal disease that results in gastrointestinal dysfunction. This case illustrates a rare paraneoplastic syndrome associated with ovarian cancer that mimics metastatic disease to the eye, but has a different pathophysiology. ( info)
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