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PubMed2005

Primary intraocular lymphoma arising during methotrexate treatment of temporal arteritis.

CASE REPORT: Primary intraocular lymphoma arose over a period of 9 months in the left eye of an 81-year-old woman who was blind in both eyes from temporal arteritis. During this period, she was treated with prednisone and methotrexate. Following a sudden total hyphema, the eye was enucleated. Examination revealed that, in addition to iris neovascularisation and central retinal artery occlusion, the neurosensory retina was replaced by atypical lymphocytes. COMMENTS: Histological and immunohistochemical studies confirmed the presence of a lymphoma with features indicative of an immunosuppression-related disorder. The relationship of the lymphoma to the vascular changes within the eye is discussed.

Aged, 80 and over↗
PubMed2005

Unusual ocular presentation of von Hippel-Lindau disease.

CASE REPORT: We report a young girl who first presented with a unilateral total exudative retinal detachment diagnosed as Coats' disease. Eight years later, when she presented with classical retinal hemangioblastomas with reduced vision in the fellow eye, the diagnosis of von Hippel-Lindau (VHL) disease was confirmed. COMMENTS: This case highlights the importance of considering the possibility of VHL in atypical cases of Coats' disease and unusual sporadic cases of unexplained unilateral exudative retinal detachment. The identification of VHL mutations and subsequent screening allows early diagnosis and treatment of asymptomatic retinal or central nervous system hemangioblastomas, as well as other malignancies associated with this syndrome.

Adolescent↗
PubMed2003

1,25-dihydroxyvitamin D3-induced apoptosis of retinoblastoma cells is associated with reciprocal changes of Bcl-2 and bax.

The active vitamin D metabolite 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2)D(3)) and related substances have previously been tested in tissue culture and animal models of retinoblastoma for their use as anti-tumor drugs. However, despite of the potential therapeutic value, the molecular mechanisms through which 1,25-(OH)(2)D(3) inhibits the growth of retinoblastoma cells are incompletely understood. To elucidate possible signalling pathways for the anti-proliferative action of vitamin D compounds in retinal tumor cells, we analyzed the effect of 1,25-(OH)(2)D(3) and its synthetic analogue KH1060 on the growth of human retinoblastoma-derived Y79 cells. Vitamin D receptor (VDR) mRNA was detected by reverse transcription PCR in Y79 cells and in tissue specimens of human retinoblastoma. VDR transcripts were confirmed at the protein level by strong immunostaining of solid retinal tumors for VDR. Incubation with 1,25-(OH)(2)D(3) and KH1060 (10(-10)-10(-6)moll(-1)) decreased the number of Y79 cells in a timely and dose-dependent manner. Treatment with 1,25-(OH)(2)D(3) (10(-10)moll(-1)) for 24 hr caused cell cycle arrest in the G0/1 phase. Apoptosis of Y79 cells in response to 1,25-(OH)(2)D(3) was demonstrated by the means of TdT-dUTP terminal nick-end labelling (TUNEL), annexin V staining, and detection of DNA fragmentation on agarose gels. 1,25-(OH)(2)D(3)-induced programmed death of Y79 cells was accompanied by a concentration-dependent increase in Bax protein and a reduction in Bcl-2 content. These findings suggest that 1,25-(OH)(2)D(3) inhibits the growth of retinoblastoma cells by causing cell cycle arrest and apoptosis. 1,25-(OH)(2)D(3)-induced programmed death of retinoblastoma cells appears to involve reciprocal changes in Bcl-2 and Bax proteins.

Analysis of Variance↗
PubMedDate not supplied

Orbital growth after unilateral enucleation in infancy without an orbital implant.

PURPOSE: To measure the volume of the anophthalmic orbit in adults who had undergone enucleation during infancy and to determine its growth. METHODS: The orbital volume in 5 adults who had undergone unilateral enucleation during infancy without an orbital implant was measured on x-ray computed tomography images. Comparisons were made between the anophthalmic and normal sides. In addition, we evaluated the morphology of the orbits showing growth retardation and the association between the prosthesis, if present, and orbital growth. RESULTS: In adults who underwent unilateral enucleation as infants, without an orbital implant, orbital growth was more retarded on the anophthalmic side than on the normal side. The difference was most marked in the area corresponding to the equator of the eyeball. This growth retardation was more severe in patients whose prosthesis was not replaced during childhood than in those who had regular replacement of their prosthesis. CONCLUSION: For orbital growth in anophthalmic orbits, an intraorbital volume that replaces the eyeball is necessary. An orbital implant at the time of enucleation and the replacement of the prosthesis with growth are important.

Adult↗
PubMedDate not supplied

Differences in the expression of glucose transporter protein isoforms in human retinoblastoma cell lines.

We investigated the expression of glucose transporter (GLUT) protein isoforms in two human retinoblastoma cell lines, Y79 and WERI-Rb1, by Western blotting analysis with anti-GLUT1, 2, 3, and 4 antibodies. GLUT1 and GLUT4 proteins were detected in Y79, whereas GLUT1 and GLUT3 proteins were found in WERI-Rb1. GLUT2 protein was not detected in Y79 or WERI-Rb1. Our findings are of interest because (1) the expression of GLUT protein isoforms in the two retinoblastoma cell lines was different, and (2) GLUT4 protein, the insulin-sensitive GLUT isoform, was detected in Y79. This suggests that these cell lines have different mechanisms of glucose transport.

Animals↗
PubMed1998

Presenting signs of retinoblastoma.

A retrospective chart review was performed on the charts of 1265 patients with retinoblastoma who were on file at New York Hospital and whose conditions had been diagnosed between the years 1960 and 1990. The mean follow-up was 90 months, ranging from 0 to 409 months. Thirty-two distinct presenting signs of retinoblastoma were identified, the most common of which were leukocoria (56.2%), strabismus (23.6%), poor vision (7.7%), and family history (6.8%). No correlation was found between any of the presenting signs and laterality, sex, race, or survival. Leukocoria correlated to Reese-Ellsworth Group Va or Vb, whereas strabismus was invariably associated with either macular tumors or macular retinal detachments. Eighty-three (96.5%) patients presenting with a family history did so before the age of 24 months. The presenting sign leading to a diagnosis of retinoblastoma was correlated with degree of advancement and tumor location. Leukocoria and strabismus are the most common presenting signs, with leukocoria correlated to more advanced disease and strabismus always associated with macular involvement. Vitreous hemorrhage (1 case, 0.1%), microphthalmos (4 cases, 0.3%), and orbital cellulitis (3 cases, 0.2%) are extremely rare presenting findings in retinoblastoma.

Child↗
PubMedDate not supplied

von Hippel-Lindau disease.

In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approximately 7000 patients with VHL disease in the USA. The inheritance of VHL disease is autosomal dominant with high penetrance. Depending on the clinical circumstances, retinal capillary hemangioma may be managed by observation, laser photocoagulation, cryotherapy, and plaque radiotherapy. Typical extraocular lesions associated with VHL disease are central nervous system hemangioma, renal cyst, renal carcinoma, pancreatic cysts and adenoma, pancreatic islet cell tumors, pheochromocytoma, endolymphatic sac tumor of the inner ear, and cystadenoma of the epididymis and the broad ligament. The life expectancy of affected individuals may be improved by early detection and treatment of varied manifestations with the use of surveillance protocols. Identification of the VHL gene on chromosome 3p25-26 has now made it possible for suspected individuals to undergo genetic testing with a high degree of accuracy. We review herein the ophthalmic manifestations and treatment of retinal capillary hemangioma and systemic findings of the VHL disease.

Brachytherapy↗
PubMedDate not supplied

Retinoblastoma in transgenic mice: models of hereditary retinoblastoma.

Retinoblastoma, the most common intraocular malignancy ill childhood, has served as a paradigm for the study of genetic mechanisms of oncogenesis. The retinoblastoma susceptibility gene RB1 was the first tumor suppressor gene to be cloned, and genetic and molecular biologic studies of this tumor have greatly expanded the understanding of the mechanics of tumorigenesis. Human retinoblastoma has essentially no naturally occuring animal counterpart. The development of transgenic murine models of retinoblastoma have created an experimental tool for manipulation of a tumor gene system in vivo. These models have also enabled studies of new therapeutic modalities. This review outlines the development of the transgenic murine models of retinoblastoma, together with the genetic mechanisms of retinoblastoma origin. Current therapeutic innovations developed by means of the transgenic models are described.

Animals↗
PubMedDate not supplied

Retinoblastoma in adults. Report of three cases and review of the literature.

Retinoblastoma usually presents in children younger than 5 years. To our knowledge, 20 cases of retinoblastoma in adults (older than 20 years) have been reported in the literature. Of 173 patients with histopathologically proven retinoblastoma seen in our institute, three were adults. All the patients had endophytic tumors with vitreous seeds. Ultrasonography did not reveal calcification in two cases. Immunohistochemistry with neuron-specific enolase was used to confirm the diagnosis in two cases. All three patients ultimately required enucleation. None of the patients had been referred with a diagnosis of retinoblastoma. The diagnosis of retinoblastoma should be considered in cases of whitish mass lesion in the fundus of an adult.

Adult↗
PubMed2002

Leiomyosarcoma in urinary bladder after cyclophosphamide therapy for retinoblastoma and review of bladder sarcomas.

We report an unusual case of a leiomyosarcoma of the urinary bladder after chemotherapy for retinoblastoma and the results of a review of the published reports of bladder sarcomas. A 22-year-old man presented with hematuria and was found to have a mass in his urinary bladder on computed tomography. Transurethral resection of the mass revealed a leiomyosarcoma. The patient underwent radical cystectomy and an ileal conduit was created. The final pathologic examination confirmed high-grade leiomyosarcoma. Prospective randomized combination trials similar to the Intergroup Rhabdomyosarcoma Study in the pediatric population are necessary to better understand and manage these potentially curable sarcomas.

Adult↗
PubMed2003

Incidence of retinoblastoma in children born after in-vitro fertilisation.

Every year, 3000 women in the Netherlands are treated with in-vitro fertilisation (IVF), and results from studies suggest that the offspring of these women do not have a heightened risk of cancer. Between November, 2000, and February, 2002, we diagnosed retinoblastoma in five patients born after IVF. To calculate the relative risk of the disease, we assumed that the proportion of children conceived by IVF in the Netherlands is between 1.0 and 1.5%, and that the five patients who we diagnosed with the disease represent all new cases in the Netherlands during that period. Relative risks for retinoblastoma were significantly raised (7.2 [95% CI 2.4-17.0], and 4.9 [1.6-11.3], for 1% and 1.5% rates, respectively). This possible association of an increased risk of retinoblastoma in a population-based study needs to be established.

Child, Preschool↗
PubMed2000

Exposure of primary orbital implants in postenucleation retinoblastoma patients.

PURPOSE: To determine significant factors influencing the exposure of primary orbital implants in patients with retinoblastoma. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: One hundred nine consecutive patients (110 sockets) who had undergone enucleation for retinoblastoma from January 1993 to December 1997. METHODS: Two patients with recurrence of orbital retinoblastoma were excluded from further analysis, leaving 107 patients (108 sockets). The parameters analyzed included the patient's age; gender; ocular diagnosis; surgeon; type, covering, and size of the implant; the use of chemotherapy or radiotherapy; and the timing of these treatments in relation to enucleation. Study patients were divided into two main groups: the "treated group"-patients who had undergone adjuvant external beam radiotherapy or chemotherapy, and the "untreated group"-patients had undergone enucleation with or without cryotherapy, laser thermotherapy, or brachytherapy to the index or fellow eye. The following additional parameters were noted in the patients with exposed implants: time to exposure from date of enucleation and treatment of exposure. MAIN OUTCOME MEASURE: Exposure of orbital implants. RESULTS: There were two exposures caused by orbital recurrence of retinoblastoma. The rate of nontumor recurrence exposure was 28% (30 of 108). The median time to exposure was 136 days (range, 1-630 days). There were 18 exposures (35%,18 of 51) in the treated group, with a 34% exposure rate (13 of 38) in the chemotherapy group. The exposure rate was 21% (12 of 57) in the untreated group. The rates of exposure according to implant were: Vicryl mesh-wrapped hydroxyapatite (2 of 18, 11%), Medpor (8 of 13, 53%), plain polymethylmethacrylate (PMMA) (4 of 50, 8%), Mersilene-wrapped PMMA (9 of 17, 53%) and Castroviejo (7 of 10, 70%). Eight of the exposures (27%) were managed conservatively; the remainder required surgical repair. CONCLUSIONS: Results suggested that implant type and covering (P = 0.000) had a highly significant effect on the rate of exposure in postenucleation retinoblastoma patients. There was no statistical evidence that age, gender, ocular diagnosis, surgeon, size of the implant, or radiotherapy had an effect on implant exposure. There was an increased rate of exposure in the chemotherapy group, although this did not achieve statistical significance (P = 0.058), but a detrimental effect could not be excluded.

Adolescent↗