Cases reported "retinal neoplasms"

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1/202. bartonella henselae infection associated with peripapillary angioma, branch retinal artery occlusion, and severe vision loss.

    PURPOSE: To report atypical clinical features of bartonella henselae neuroretinitis treated with combination antibiotics. METHOD: Case report. RESULTS: A 20-year-old man with a positive B. henselae titer developed a unilateral neuroretinitis, a large peripapillary angiomatous lesion, branch artery occlusion with ischemic maculopathy, and vision loss that failed to improve with clindamycin. Treatment with doxycycline and rifampin led to rapid clinical improvement. The severe vision loss in this case is atypical. CONCLUSIONS: Ocular findings associated with B. henselae infection may include retinal angiomatous lesion and branch retinal artery occlusion. doxycycline and rifampin were successful in treating the infection. ( info)

2/202. Primary ocular Epstein-Barr virus-associated non-Hodgkin's lymphoma in a patient with AIDS: a clinicopathologic report.

    OBJECTIVE: To report an unusual case of chronic multifocal chorioretinitis with vitritis in a patient with acquired immunodeficiency syndrome (AIDS) that was resistant to antiviral and antitoxoplasmic medication and required a retinal biopsy for definitive diagnosis. methods: Vitreous biopsy, pars plana vitrectomy, and retinal biopsy were performed. The vitreous biopsy material was sent for bacterial, fungal, and viral culture, and the vitreous cassette was sent for cytology. The retinal biopsy material was divided and sent for polymerase chain reaction testing for toxoplasmosis and virology and pathologic tissue analysis. RESULTS: Vitreous cytology showed a mixed population of lymphocytes and histiocytes, but all other microbiologic and virologic studies were negative. Tissue analysis revealed an infiltrate of atypical mononuclear cells extending from the inner limiting membrane through the outer plexiform layer characteristic of a B cell, non-Hodgkin's lymphoma of the central nervous system (NHL-CNS). in situ hybridization for the Epstein-Barr virus (EBV) was positive. An extensive systemic evaluation did not show evidence of extraocular tumor. CONCLUSION: Although rare, primary ocular NHL-CNS can be seen in patients with AIDS, and its clinical presentation often closely resembles other disorders. To our knowledge, this case represents the first ocular NHL in which EBV is shown to be associated. ( info)

3/202. Establishment and characterization of a second primary osteosarcoma cell line (OSrb/N-M) from a patient cured of bilateral retinoblastoma.

    A cell line, designated OSrb/N-M, was established from the second primary osteosarcoma that developed in a 17-year-old Japanese female patient who had suffered from bilateral retinoblastoma at infancy. The OSrb/N-M cells grew as an adherent monolayer and retained some osteogenic biochemical phenotypes. In cytogenetic analyses, this cell line revealed many structural and numerical abnormalities, however, the bands q14 of both chromosomes 13 appeared to be normal, whereas the constitutional cells displayed normal female karyotypes. Immunoblot studies using monoclonal antibodies specific to RB protein demonstrated that the tumor cells did not express RB protein, suggesting that the OSrb/N-M cells might suffer from a loss-of-function mutation at this gene locus. Thus, this cell line is useful to study the molecular mechanism for the tumorigenesis of osteosarcoma with regard to an association with retinoblastoma. ( info)

4/202. persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis: report of a case including tumoral immunohistochemistry and cytogenetic analyses.

    OBJECTIVE: The authors describe an ocular lesion combining the characteristics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC). STUDY DESIGN: Case report. methods: immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. RESULTS: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. glial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic reaction in the astrocytic proliferation, involving approximately 50% of the cells. Tissue culture studies showed a fairly rapid proliferation of fusiform cells, consistent with bipolar astrocytic cells. Cytogenetic studies showed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. CONCLUSION: The atypical localization of the retinal tumor could be explained by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV. ( info)

5/202. Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis.

    OBJECTIVE: To report an unusual case of giant cell astrocytoma of the retina. DESIGN: Case report. INTERVENTION: A 10-month-old girl with tuberous sclerosis was found to have bilateral astrocytic hamartomas, the right eye being prominently involved by elevated and pedunculated lesions. At 7 years of age, she had posterior subcapsular cataract, retinal detachment, and subretinal exudation develop in the right eye. At 12 years of age, her blind, painful right eye had to be enucleated because of neovascular glaucoma and a spontaneous scleral perforation. RESULTS: Histopathologic examination showed that the entire vitreous cavity was filled with a mixture of tumor, granulation tissue, and necrotic debris. Part of the tumor was composed of spindle-shaped glial cells. The remainder was composed of large gemistocytic cells that contained large atypical nuclei and copious amounts of cytoplasm, which was intensely eosinophilic in some areas. The tumor contained foci of necrosis and rare mitotic figures. It had infiltrated the parenchyma of the retrolaminar nerve and extended to the surgical margin. Areas of unequivocal choroidal invasion were also identified. The tumor cells were intensely immunoreactive for neuron-specific enolase and S-100 protein. In contrast, glial fibrillary acidic protein was only minimally positive. CONCLUSIONS: The histologic and immunohistochemical features of this retinal tumor resemble those of subependymal giant cell astrocytoma, a characteristic lesion in tuberous sclerosis. Although this unusual giant cell astrocytoma of the retina had atypical histopathologic features and local aggressive behavior, the systemic prognosis was excellent. ( info)

6/202. Treatment of paraneoplastic visual loss with intravenous immunoglobulin: report of 3 cases.

    BACKGROUND: Paraneoplastic visual loss is an autoimmune disorder believed to be caused by the remote effects of cancer on the retina (cancer-associated retinopathy [CAR]) or optic nerve. Both disorders may result in rapid and complete blindness. Spontaneous recovery of vision has not been reported. The serum of patients with CAR contains autoantibodies against recoverin, enolase, or unidentified retinal proteins. autopsy examination results of eyes of blind patients with CAR show complete absence of the retinal neurons involved in phototransduction. Corticosteroids and plasmapheresis are the only treatment options previously described. OBJECTIVE: To treat paraneoplastic visual loss. DESIGN AND methods: Three patients with metastatic cancer developed rapidly progressive loss of vision. The first patient had visual acuity of hand movements in each eye before intravenous immunoglobulin treatment. The second patient had visual acuity of light perception in both eyes. The third patient's visual acuity was 20/400 OD and 20/20 OS. Diagnostic tests included magnetic resonance imaging of the head and cytologic examination of the cerebrospinal fluid to exclude metastasis as the cause of visual loss and then an electroretinogram and serum tests for autoantibodies against retinal antigens to confirm the clinical diagnosis of CAR. patients 1 and 2 were treated with intravenous immunoglobulin (400 mg/kg per day) for 5 days; however, patient 3 received only a single dose due to adverse effects consisting of shortness of breath and itching. RESULTS: Within 24 hours of taking the first dose of intravenous immunoglobulin, the visual acuity of patient 1 improved from hand movements only in both eyes to 20/50 OD and 20/200 OS. After the third day of treatment, visual acuity in the left eye further improved to 20/40. Even with the improved acuity, Goldmann visual field perimetry results showed poor responses in both eyes. However, 2 weeks later there was marked visual field improvement, and visual acuity was maintained at 20/50 OD and 20/40 OS. Patient 2 had no improvements and continued to have light perception in both eyes. Patient 3 had improvements in visual field defects but remained 20/400 OD and 20/20 OS. CONCLUSION: Intravenous immunoglobulin may be another treatment option offered to patients with paraneoplastic visual loss in addition to corticosteroids or plasmapheresis because a review of the medical literature has shown no spontaneous improvements of visual function without treatment. ( info)

7/202. Trilateral retinoblastoma with an RB1 deletion inherited from a carrier mother: a case report.

    A presentation of intracranial tumor in bilateral and unilateral retinoblastoma with or without family history is termed as trilateral retinoblastoma (TRB). It always occurs either as a pineal tumor or supra/parasellar tumor, which differ in presentation and prognosis. We report here the first case of TRB with transmission of retinoblastoma gene (RB1) deletion from an unaffected mother (a carrier), presenting as concurrent intracranial neoplasm with bilateral retinoblastoma. The presence of RB1 mutation in both child and mother could be responsible for development of intracranial neoplasm which occurred simultaneously with bilateral RB in our patient. Our patient, who had a suprasellar mass, received radiation and intrathecal chemotherapy, and died 6 months after diagnosis. The occurrence of intracranial tumor in an asymptomatic stage can be avoided by routine computed tomography (CT) and magnetic resonance imaging (MRI) scan, and improved survival can be achieved by aggressive multimodality therapy. ( info)

8/202. acquired immunodeficiency syndrome-related intraocular B-cell lymphoma.

    OBJECTIVES: To present the full clinical spectrum of the acquired immunodeficiency syndrome-related intraocular lymphoma as manifested in the eye, specifically retinal lymphoma associated with primary central nervous system lymphoma, isolated ocular lymphoma, and choroidal lymphoma associated with systemic lymphoma. methods: Three patients with acquired immunodeficiency syndrome were noted to have atypical retinal lesions. Diagnostic retinal biopsy in 2 patients and postmortem examination of the eyes in the third case were performed. RESULTS: Diagnostic retinal biopsy in the first 2 patients revealed retinal B-cell lymphoma. Initial systemic evaluation showed the eyes to be the sole site of disease. Later, in 1 of these patients, the lymphoma spread to the brain. The third patient developed an acute abdomen 4 months after the development of his ocular findings. The histological evaluation of the resected bowel revealed high-grade B-cell lymphoma. The patient died 1 week later and postmortem analysis of the eyes disclosed the presence of lymphoma in the choroid of both eyes. CONCLUSIONS: This is the most complete series of patients with acquired immunodeficiency syndrome-related intraocular B-cell lymphoma and, to our knowledge, provides the first 2 cases diagnosed by retinal biopsy. These 3 cases present the full clinical spectrum of the disease as manifested in the eye. ( info)

9/202. Cutaneous melanoma-associated paraneoplastic retinopathy: histopathologic observations.

    PURPOSE: To describe the retinal histopathology of paraneoplastic retinopathy associated with cutaneous melanoma. methods: A 59-year-old man had visual loss attributable to paraneoplastic retinopathy and died of metastatic cutaneous melanoma. His eyes were studied by conventional histopathologic techniques. RESULTS: Histopathologic examination of both eyes disclosed a marked reduction in the density of bipolar neurons in the inner nuclear layer; photoreceptor cell neurons in the outer nuclear layer were normal. Ganglion cells were present, although many showed evidence of transsynaptic atrophy. CONCLUSION: The histopathologic changes observed are consistent with clinical, immunologic, and electrophysiologic data that implicate the bipolar cell as the major site of the paraneoplastic process in cutaneous melanoma-associated retinopathy. ( info)

10/202. Disseminated retinoblastoma successfully treated with myeloablative chemotherapy--implication for molecular detection of minimal residual disease.

    A useful marker for detecting minimal residual disease (MRD) has not been established yet in retinoblastoma. We assessed neuroendocrine protein gene product 9.5 (PGP9.5) expression, one of the markers for detecting MRD in neuroblastoma, in a patient with disseminated retinoblastoma. A 3-year-old boy with disseminated retinoblastoma in multiple bones and marrow was referred to our hospital. He received intensive treatment and has maintained CR for 48 months following myeloablative chemotherapy with hematopoietic stem cell transplantation (SCT). PGP9.5 expression was serially assessed by RT-PCR in peripheral blood mononuclear cells (PBMC), bone marrow cells (BMC) and mobilized peripheral blood stem cells (PBSC). Initially, his BMC consisted of 96% tumor cells which were proved to express PGP9.5 by RT-PCR. Moreover, PBMC were found to be positive for PGP9.5 indicating the presence of tumor cells in the peripheral blood. After intensive chemotherapy, PGP9.5 expression became negative in both PBMC and BMC. Prior to SCT, PBSC and BMC transplants were confirmed negative for PGP9.5 expression. It is suggested that PGP9.5 expression is a useful marker for evaluating therapeutic effects as well as detecting MRD in retinoblastoma. ( info)
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