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Vitreous seeding by a peripapillary retinal astrocytic hamartoma in a patient with tuberous sclerosis was supported by vitreous biopsy and the use of millipore filter and a modified Papanicolaou staining technique. Vitreous seeding may be associated with vitreous inflammation and hemorrhage.
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Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited cancer syndrome. The disease was diagnosed in three patients: a 22-year-old woman who presented with decreased vision due to retinal angiomatosis and in whom a renal carcinoma was diagnosed five years later at a routine VHL analysis, a man aged 44 who died with bilateral renal cysts and clear-cell carcinomas with metastases, who had a positive family history but in whom no regular control investigations had been performed, and a 31-year-old man who also had a positive family history, but who presented with epididymal cystadenoma and who in the subsequent decades developed cerebral and renal neoplasms that all were detected at routine examinations and subsequently removed. These case histories emphasize the importance of: (a) early recognition of patients presenting with a 'sporadic VHL-like' tumour, (b) frequent screening and early treatment of VHL patients and (c) nephron sparing surgery in VHL patients. The prognosis and quality of life of patients with VHL disease has significantly increased by early detection and treatment of asymptomatic tumours, in particular in the eye and kidney.
The radiographic findings and method of investigation are presented in the retrospective and prospective study of 221 descendents of an individual affected with von Hippel-Lindau disease. Among 42 affected individuals, most of the reported manifestations were found, such as cerebellar hemangioblastoma, retinal angioma, and renal cell carcinoma. A new manifestation, pancreatic carcinoma, was also seen. Although pheochromocytoma is common in some reported families, no cases were found in this group. An organized multidisciplinary approach is necessary to effectively identify and treat individuals affected with this disease.
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.
Presenting signs and symptoms of 193 patients with choroidal melanomas (followed for up to 152 months) were recorded using retrospective chart review. Eighty patients (41%) had no symptoms (the melanoma was found during routine ophthalmologic examination in 65 patients and during treatment for other eye problem in 15 patients). We found 113 patients (59%) had symptoms (visual acuity or visual field defects, 77 patients; flashes or floaters, 30 patients; pain, 5 patients, and metastatic disease, 1 patient). The tumor size was related to the presence or absence of symptoms (chi-square, 10.6; P = .005). More tumors that presented with symptoms were medium sized (64%) than large (27%). Men had significantly more symptoms (chi-square, 4.1; P = .04). The right eye was more likely to be involved in patients with symptoms (chi-square, 7.3; P = .007). Kaplan-Meier survival analysis for age, sex, presence of tumor or retinal detachment in the macula, tumor location, presence of symptoms, laterality, and tumor size showed that only tumor size was related to a difference in incidence of metastasis (log-rank chi-square, 12.9; P = .002). With increased tumor height, the probability of developing metastasis was greater.
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Tumors from two patients with bilateral retinoblastoma and intracranial malignancies were studied from a clinical, histopathological, and an immunohistochemical standpoint. An antiserum derived against tissue cultured Y-79 retinoblastoma cells was utilized in order to examine the surface and cytoplasmic antigens of the two brain tumors, histopathologically diagnosed as an embryonal cell carcinoma (case 1), a pinealoblastoma (case 2), and one ocular retinoblastoma. The two brain tumors reacted with the antiserum to different degrees. In comparison, the ocular tumor reacted strongly. None of the tissues examined were found to contain retinal S- or P-antigen. The concept of retinoblastomas arising de novofrom the pineal gland and the association of intracranial malignancy occurring in retinoblastoma is stressed. The antigenic and immunologic relationships between normal retina and pineal gland and retinoblastoma, neuroblastoma, and pinealoblastomas are discussed.
Cancer may affect the eye and orbit as a direct result of metastatic neoplastic infiltration, compression, or circulating antibodies involving paraneoplastic retinal degeneration. A metastatic tumor to the uvea is the most common form of an intraocular metastatic process. The choroid is the most common site for uveal metastasis; metastases to the ciliary body, iris, retina, optic disk, and vitreous are rare. Approximately one-third of patients have no history of primary cancer at the time of ocular diagnosis. Breast and lung carcinomas for women and lung and gastrointestinal carcinomas for men most commonly metastasize to the eye and orbit. The short-term prognosis for vision is usually good after an individualized therapeutic approach (chemotherapy, hormonal therapy, external beam radiotherapy, or plaque radiotherapy), but the systemic prognosis is poor. The visual paraneoplastic syndromes encompass several distinct clinical and pathological entities including carcinoma-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), and bilateral diffuse melanocytic uveal proliferation (BDUMP). The CAR syndrome affects photoreceptors, MAR is thought to affect bipolar cell function, and BDUMP targets the uveal tract. Identification of circulating antibodies against retinal proteins (recovering, 23-kDa retinal protein; 46-kDa and 60-kDa retinal proteins) serves to recognize the paraneoplastic nature of the patient's symptoms, which frequently develop before the cancer is diagnosed. Anecdotal therapeutic responses are described after systemic steroids, immunoglobulin injection, and plasmapheresis. Recognition of their visual symptoms and ocular findings should alert the ophthalmologist to the possibility of cancer and systemic evaluation should be pursued.
The colony formation in agar of human tumour xenografts was used as a test system to study the cytostatic activity of ethyldeshydroxy-sparsomycin (EdSm) at the cellular level. EdSm was additionally studied in vivo in human tumour xenografts and murine tumour models. EdSm showed a clear dose-response effect in vitro. At continuous exposure with 0.01 micrograms/ml, 2 out of 11 of the tumours responded (a gastric and a small cell lung carcinoma). At 0.1 mu/ml EdSm, the tumour response was 5/11 tumours and at 1 microgram/ml the compound was active in all tumours. The maximal tolerable doses of EdSm in vivo have been determined in non-tumour bearing CDF1 mice. In the intraperitoneally (i.p.) given multiple dose schedules the respective LD10 doses indicated that the tolerable cumulative dose increases when lower doses are given more frequently. This also enhances the antitumour activity in L1210 leukaemia to 172% T/C. On the other hand, continuous infusion strongly diminished the tolerable dose as well as the antitumour activity. EdSm was also active against i.p. inoculated P388 leukaemia (150% T/C), B16 melanoma (156% T/C), and RC carcinoma (197% T/C), and the subcutaneously (s.c.) inoculated L1210 (139% T/C) and RC (138% T/C). Absence of tumour responses was found in the following s.c. implanted murine tumours: M5076 sarcoma, osteosarcomas C22LR and CP369, and the LL carcinoma, as well as in the human tumour xenografts: LXFG 529, a non-small cell lung carcinoma; GXF 251, a gastric carcinoma; and FMa, an ovary carcinoma. Possible long-range retinotoxic effects of EdSm were investigated in tumour-bearing mice, cured after surviving treatment with LD50 doses of EdSm, by assaying the protein biosynthetic capacity of the retinal by assaying the ocular rhodopsin and opsin levels as parameters. In none of these cases could a significant reduction in either opsin or rhodopsin levels be measured and no changes were seen histologically.
Immunosuppressive acidic protein (IAP) is known to be a useful marker for malignant tumors and inflammatory diseases. We have previously reported that serum IAP level was increased in cases of Behçet's disease, especially in the acute phase, and those of retinoblastoma with extraocular infiltration. We assayed IAP levels in the vitreous body of various ocular diseases, including five cases of proliferative vitreoretinopathy (PVR), five cases of vitreous hemorrhage including four cases of branch retinal vein occlusion (BRVO) and one case of Terson's syndrome, four cases of proliferative diabetic retinopathy (PDR) and five cases of acute retinal necrosis syndrome. The single radial immunodiffusion method was used. The vitreous IAP level ranged from 5 to 130 micrograms/ml according to each case. Statistical analysis revealed that the vitreous IAP level was significantly higher in the group of PDR (p less than 0.05) and in the group of acute retinal necrosis syndrome (p less than 0.01) compared to the group of vitreous hemorrhage. In all cases, serum IAP levels were within normal limits. These results suggested that IAP might be produced within the ocular tissue, possibly by the activation of suppressor macrophages and migration of polymorphonuclear leukocytes in the vitreous with pathologic condition.
Bilateral ocular metastatic squamous cell carcinoma was diagnosed in a cat. Ophthalmic signs included bilaterally swollen optic discs, choroidal pallor, and retinal vascular engorgement. A retinal detachment was apparent in the left eye and retinal edema and hemorrhage in the right eye. Systemic signs of progressive visual impairment, ataxia, and weakness were noted. The patient's condition continued to deteriorate despite therapy with systemic antibiotics and corticosteroids, and euthanasia was performed. The diagnosis was made upon histologic examination that revealed metastasis of malignant squamous cells to both globes, the brain, and lungs.
A 66-year-old white woman with a confusing spectrum of central nervous system signs and symptoms had a diagnostic enucleation of her blind left eye showing retinal infiltration. Histopathologic examination showed reticulum cell sarcoma involving the retina. The patient died one month later and autopsy revealed diffuse central nervous system reticulum cell sarcoma along with right eye and systemic involvement. A review of the literature indicates intraocular reticulum cell sarcoma to be an apparently uncommon occurrence, although ocular examination may be frequently overlooked.
CASE REPORT: We document a previously unreported association of Vogt-Koyanagi-Harada (VKH) syndrome with intracranial meningioma. A female patient with diminished vision, exudative retinal detachment, and headache was diagnosed with VKH syndrome, more precisely a Harada form of disease with intracranial meningioma, on the basis of exudative retinal detachment, typical fundus fluorescein findings, and magnetic resonance imaging. With intravenous steroid therapy, visual acuity improved and the detachment settled within a week. At 3 months, the detachment recurred but improved after retreatment. At 1 year, the tumour was unchanged in size. COMMENTS: VKH syndrome may be associated with intracranial meningioma that may affect the patient's overall morbidity or mortality.
OBJECTIVE: The purpose of the study is to investigate chemoreduction and adjuvant treatment (AT) for retinoblastoma and its effect on complete retinal tumor control, vitreous seed control, and subretinal seed control. DESIGN: The study design was a prospective, nonrandomized clinical trial. PARTICIPANTS: There were 130 intraocular retinoblastomas in 52 eyes of 32 consecutive patients observed for at least 1 year after initiation of treatment. INTERVENTION: Treatment with chemoreduction using vincristine, etoposide, and carboplatin (VEC) and adjuvant treatment (+ AT) (cryotherapy, laser photocoagulation, thermotherapy, chemothermotherapy, plaque radiation therapy, or external beam radiation therapy) were assessed. MAIN OUTCOME MEASURES: The effect of chemoreduction for 6 cycles (VEC x 6) versus fewer than 6 cycles (VEC x <6) on retinoblastoma control was analyzed. Furthermore, the impact of adjuvant treatment (+ AT) versus no adjuvant treatment (no AT) on retinoblastoma control was analyzed. RESULTS: Retinal tumors showed favorable initial regression with chemoreduction. Adjuvant treatment was applied to 93% of the retinal tumors after chemoreduction and only 2% recurred over the mean follow-up of 17 months (range 13-27 months). Vitreous seeds and subretinal seeds showed initial regression and often complete disappearance with chemoreduction. In those eyes with seeds before treatment, the addition of AT to VEC for 6 cycles decreased the vitreous seed recurrence from 75% to 0% (P = 0.04) and also decreased the subretinal seed recurrence from 67% to 0% (P = 0.003). More important, when considering that enucleation or external beam radiation therapy was the only other treatment option for these 52 eyes, the authors were successful in avoiding these methods in 42% of cases. Of the 36 eyes classified as Reese-Ellsworth group 5, there was 78% ocular salvage, and external beam radiation therapy was avoided in 25% of these eyes. There was a 100% ocular salvage in the group 5 eyes that received VEC for 6 cycles + AT to retinal tumors and seeds. CONCLUSIONS: Chemoreduction and AT to intraocular retinoblastoma and its seeds provides good retinal tumor control, even in eyes with advanced disease. Chemoreduction alone generally is not adequate to achieve complete tumor seed control. Cautious follow-up of affected patients is recommended because the risk for recurrent vitreous and subretinal seeds is substantial and proper treatment is critical for salvaging the eye.
The majority of AIDS patients will develop ocular complications at some point during the course of their illness. The most common complications involve the retina. Accurate diagnosis of noninfectious and infectious (especially CMV) retinopathy is extremely important as most forms of infectious retinitis can be treated, albeit not without significant complications in many cases. Close cooperation between the ophthalmologist and internist is essentially to ensure that timely therapeutic intervention, which can dramatically reduce the risk of visual impairment and blindness, can be initiated. AIDS-related diseases of the central nervous system, especially nonviral infections, are often associated with abnormalities of ocular function. Assessment of visual acuity, visual fields, extraocular movements, pupillary reflexes, color perception, and the condition of optic nerve and retina is important for accurate diagnosis.
Hemizygosity for the retinoblastoma gene RB in man strongly predisposes to retinoblastoma. In the mouse, however, Rb hemizygosity leaves the retina normal, whereas in Rb-/- chimeras pRb-deficient retinoblasts undergo apoptosis. To test whether concomitant inactivation of the Rb-related gene p107 is required to unleash the oncogenic potential of pRb deficiency in the mouse retina, we inactivated both Rb and p107 by homologous recombination in embryonic stem cells and generated chimeric mice. Retinoblastomas were found in five out of seven adult pRb/p107-deficient chimeras. The retinal tumors showed amacrine cell differentiation, and therefore originated from cells committed to the inner but not the outer nuclear layer. Retinal lesions were already observed at embryonic day 17.5. At this stage, the primitive nuclear layer exhibited severe dysplasia, including rosette-like arrangements, and apoptosis. These findings provide formal proof for the role of loss of Rb in retinoblastoma development in the mouse and the first in vivo evidence that p107 can exert a tumor suppressor function.
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