Retinoblastoma with cataract and ectopia lentis.
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Cataract↗
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The effect of initial recognition of abnormalities by physicians on outcome of retinoblastoma.
PURPOSE: The purpose of this study was to assess the effect of early diagnosis by physicians on outcome of retinoblastoma. METHODS: This was an observational case series in which the records of 36 patients with retinoblastoma were reviewed. The age at onset of first symptoms and diagnosis, identity of the individual who first recognized an abnormality, treatment, and outcome were analyzed. RESULTS: Twenty-two patients had unilateral retinoblastoma. Both eyes were preserved in only 2 of these patients, both of whom had abnormalities first noted by their pediatricians. Fourteen patients had bilateral retinoblastoma. Both eyes were preserved in the 5 bilateral patients who were monitored from birth with serial examinations under anesthesia because of family histories of retinoblastoma. Enucleation of at least 1 eye was required in 8 of the 9 bilateral patients whose families first noted abnormalities. Enucleation of at least 1 eye was required in 27 of 28 patients (96%) in whom abnormalities were first noted by parents. CONCLUSION: In this series, the only patients with unilateral retinoblastoma who did not require enucleation were those in whom pediatricians, rather than family members, first noted ocular abnormalities. Both eyes were preserved in all patients with bilateral retinoblastoma who underwent serial examinations under anesthesia because of family histories of retinoblastoma. The prognosis for retinoblastoma appears to be greatly improved when physicians initially detect abnormalities. Educational efforts directed at early detection of retinoblastoma by pediatricians and other primary care providers should be encouraged.
Child↗
Persistent fetal vasculature associated with orbital lymphangioma.
Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling or proptosis and are not associated with intraocular abnormalities. We report the case of a male infant with PHPV and ipsilateral orbital lymphangioma.
Diagnosis, Differential↗
Management of radiotherapy-induced cataracts in eyes with retinoblastoma.
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Cataract↗
Cataract surgery and intraocular lens implantation in retinoblastoma.
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Cataract↗
Quantitative analysis of proliferation, apoptosis, and angiogenesis in retinoblastoma and their association with the clinicopathologic parameters.
PURPOSE: Quantitative analyses of proliferation, apoptosis, and angiogenesis, which may be important for the prognosis of retinoblastoma, were performed and possible associations with some well-known clinicopathologic parameters were investigated. METHODS: Fifty-three pathology specimens (43 enucleations, 10 exenterations) were evaluated by immunohistochemical methods. The proliferative index was detected by Ki67 antibody staining. The apoptotic index was calculated by the in situ terminal deoxynucleotidyl transferase mediated dUTP nick end labeling (TUNEL) method, and angiogenesis was detected by CD34 antibody staining. RESULTS: The mean proliferative index was 37.63+/-11.12, the mean apoptotic index was 2.67+/-1.18, and the microvessel density and mean vascular area were determined as 3.14+/-1.4 and 38.73+/-12.70, respectively. Statistical analysis showed that the proliferative index was directly proportional to the tumor dimensions (P=.001). In addition, the tumor dimensions were larger in cases where the apoptotic index was below 2.4% (P=.011). In cases where the apoptotic index was over 2.4%, no metastasis was observed and also a lower proliferative index was found (P=.014). CONCLUSIONS: Proliferation appears to be more important than apoptosis and angiogenesis in determining the tumor dimensions. The apoptotic index may be an important predictor of metastasis, and may be useful in the follow-up of bilateral cases with 1 eye enucleated.
Apoptosis↗
Retinoblastoma and simulating lesions: role of imaging.
Although the diagnosis of retinoblastoma (Rb) is made primarily by means of clinical examination, CT and MR imaging are helpful to confirm the diagnosis, determine the extent of the intraocular tumor, and exclude extraocular or intracranial involvement. They are also valuable in differentiating Rb from lesions that simulate Rb.
Diagnosis, Differential↗
Retinoblastoma: animal models.
Employment of animal models in basic research has significantly advanced the understanding of fundamental processes underlying tumorigenesis in retinoblastoma, including elucidating the complex role of pRb and other related protein products in cell cycle regulation, apoptosis, DNA damage responses, and terminal differentiation. The evolution of therapy for retinoblastoma has also been facilitated through translational research using in vivo models, including xenograft and genetically engineered systems. In retinoblastoma, these models provide a valuable preclinical context for testing the efficacy and safety of conventional chemotherapy, radiotherapy, or novel agents on tumor growth, tissue invasion, and metastasis.
Animals↗
Management of advanced retinoblastoma.
This review provides an update on the current management of advanced retinoblastoma.
Antineoplastic Combined Chemotherapy Protocols↗
Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomic outcomes.
OBJECTIVE: To examine the visual and anatomic outcomes of patients with retinal capillary hemangiomas secondary to von Hippel-Lindau (VHL) disease treated with globe-salvaging fractionated external beam radiotherapy (EBRT) after progression of hemangiomas despite initial therapy. DESIGN: Retrospective noncomparative consecutive case series. PARTICIPANTS: Review of medical records of 5 patients with retinal capillary hemangiomas secondary to VHL disease. INTERVENTION: External beam radiotherapy delivered to a total dose of 2160 cGy given over 12 daily fractions. MAIN OUTCOME MEASURES: Data on visual acuity and tumor size were collected at baseline, 1, 3, 6, and 12 months after EBRT, and at final follow-up, using echography, fundus photographs, and clinical examination. RESULTS: Six eyes of 5 patients were treated. Mean follow-up was 28.3 months (range, 6-51). Mean baseline visual acuity was 20/70. Mean visual acuity at last follow-up was 20/45 (range, 20/25-20/60). Tumor volume reduction was 27.5 mm(3) (range, 0.9-109.6 mm(3)). Mean percentage reduction in tumor volume was 39.6% (range, 3.3%-71.1%). CONCLUSIONS: External beam radiotherapy is a useful option in the treatment of retinal hemangiomas secondary to VHL disease that progress despite standard therapy. External beam radiotherapy leads to improvement in visual acuity, reduction in tumor volume, and stabilization of retinal detachment in most patients treated.
Adolescent↗
Chorioretinal scar growth after 810-nanometer laser treatment for retinoblastoma.
PURPOSE: To determine the extent of expansion of laser scars after single treatment with transpupillary thermotherapy (TTT) for retinoblastoma. DESIGN: We retrospectively reviewed medical records and RetCam (Massie Industries, Dublin, CA) digital fundus photographs of patients with retinoblastoma who received TTT by use of an 810-nm diode laser with large-spot indirect ophthalmoscope. Digital images were measured by use of RetCam software beginning immediately after treatment. Lesions were measured in both linear size and area by 2 observers. In addition, optic disc diameters were also measured for each image. PARTICIPANTS: We identified 9 patients with hereditary retinoblastoma who were treated from 1997 to 2000. MAIN OUTCOME MEASURES: Linear and area expansion of laser scars as a function of time. RESULTS: Fourteen tumors in 10 eyes were treated successfully with 1 session of TTT. Follow-up for all eyes was at least 16 months. Scars of 12 of the 14 lesions increased beyond their original borders (mean starting linear diameter, 2.02 mm; range 1.46-2.59 mm; mean increase, 0.72 mm [36%]) over time, most within 6 months to 1 year after treatment. CONCLUSIONS: Scars from TTT for retinoblastoma may increase in size after treatment. This expansion must be considered when applying TTT to tumors near vital macular structures, such as the fovea and optic nerve.
Choroid Diseases↗
Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth cohort analysis.
PURPOSE: To assess change in incidence of retinoblastoma in Northern Europe and to compare commonly used methods for calculating its incidence against birth cohort analysis. DESIGN: Retrospective cohort study. PARTICIPANTS: Individual and pooled data of 291 Swedish and 174 Finnish children diagnosed with retinoblastoma between 1958 and 1998. MAIN OUTCOME MEASURES: Incidence per 1 million children younger than 5 years of age (37 812 035 person- years at risk) and per 100 000 live births (7 152 265 live-born children at risk). METHODS: Data were from Swedish and Finnish Cancer Registries and corresponding national referral centers for retinoblastoma. Incidence was calculated both by standard analysis per children younger than 5 years of age and per live births, and by birth cohort analysis. Curves were smoothed with robust, locally weighted regression. Linear regression was used to fit pooled data. RESULTS: The number of new retinoblastoma cases per year ranged from 0 to 13 (1-13 per birth cohort) in Sweden and from 0 to 10 in Finland (1-9 per birth cohort). The mean incidence was 11.8 (95% confidence interval [CI], 10.5-13.1) and 11.2 (95% CI, 9.4-13.0) per 1 million children younger than 5 years of age in Sweden and Finland, respectively, and 6.7 (95% CI, 5.9-7.5) and 6.2 (95% CI, 5.3-7.2) per 100 000 live births, respectively. Analysis based on year of diagnosis suggested moderate increase in incidence since 1990, but by birth cohort analysis, incidence rates were stable for both countries. The pooled incidence by birth cohort was 6.0 (95% CI, 5.4-6.6) per 100 000 live births, corresponding to 1 in 16 642 (95% CI, 15 105-18 528) live births. CONCLUSIONS: The data suggest that the incidence of retinoblastoma is stable in Northern Europe. Analysis based on birth cohort is recommended for future epidemiologic studies, because it minimizes the effect of variable age at diagnosis of this developmental cancer and results in less variable incidence rates than standard analysis based on year of diagnosis.
Adolescent↗
Orbital lymphangioma.
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Arteriovenous Malformations↗
Subconjunctival carboplatin in fibrin sealant in the treatment of transgenic murine retinoblastoma.
PURPOSE: To evaluate the efficacy of subconjunctival carboplatin in fibrin sealant in the treatment of transgenic murine retinoblastoma. DESIGN: Experimental study using LHbeta-Tag transgenic mice in a randomized controlled trial. PARTICIPANTS AND CONTROLS: Thirty-three 10-week-old LHbeta-Tag transgenic mice: 22 carboplatin-treated animals and 11 control animals. METHODS: Three groups of 11 mice were treated with a single, 30 microl injection of fibrin sealant in the subconjunctival space of 1 eye; the opposite eye was left untreated as an internal control. Group 1 (low-dose group) received 37.5 mg/ml calculated concentration of carboplatin in fibrin sealant (0.66 mg measured total dose). Group 2 (high-dose group) received 75 mg/ml calculated concentration of carboplatin in fibrin sealant (1.23 mg measured total dose). Group 3 (control group) received fibrin sealant only. Mice were killed on day 22 after treatment. Eyes were serially sectioned, and retinal tumor burden was quantified by histopathologic analysis. For statistical analysis of treatment effects, eyes were divided into 6 groups: low-dose group, sealant-treated eyes; low-dose group, untreated eyes; high-dose group, sealant-treated eyes; high-dose group, untreated eyes; control group, sealant-treated eyes; and control group, untreated eyes. MAIN OUTCOME MEASURES: Main outcome measure was mean tumor burden per level per eye in each experimental group. RESULTS: The best therapeutic results were obtained in eyes treated with low-dose carboplatin in fibrin sealant, where no histopathologic evidence of toxicity was observed, and 6 of 11 eyes had zero tumor burden. Tumor burden in the remaining 5 eyes in this group was minimal (4 eyes) or moderate (1 eye) compared with mean control values. Mean tumor burden in this group was significantly smaller than mean tumor burden in untreated eyes from the same mice (P<0.004), sealant-treated eyes in the control group (P<0.004), and untreated eyes in the control group (P<0.002). Although a similar reduction in mean tumor burden was observed in eyes treated with high-dose carboplatin in fibrin sealant, 5 of 10 eyes analyzed in this group also demonstrated histopathologic evidence of severe toxicity. CONCLUSIONS: Subconjunctival carboplatin in fibrin sealant is effective in the treatment of transgenic murine retinoblastoma. A single injection of low-dose carboplatin in fibrin sealant was sufficient to induce complete or near-complete intraocular tumor regression in 10 of 11 eyes (91%), with no associated histologic evidence of toxicity. These results suggest that subconjunctival carboplatin in fibrin sealant provides sustained release and could have clinical use in the treatment of intraocular retinoblastoma.
Animals↗
Late-onset retinoblastoma in a well-functioning fellow eye.
PURPOSE: To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untreated and otherwise normal right eye of a 27-year-old white male with a g.153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas. DESIGN AND PARTICIPANTS: Retrospective interventional case report. INTERVENTIONS: Over the years, the right eye was irradiated twice and underwent trans-pars plana vitrectomy, transscleral cryocoagulation, argon laser photocoagulation of tumors and their feeder vessels, extracapsular cataract extraction with posterior chamber lens implantation, and neodymium:yttrium-aluminum-garnet laser treatment of after-cataract in the form of Elschnig's pearls. Finally, the patient received combination chemotherapy with etoposide, methotrexate, actinomycin D, cisplatin, and vincristine. RESULTS: The eye finally had to be removed 12 years later due to tumor recurrences and seeding, pseudohypopyon, and elevated intraocular pressure. Histopathology showed microcellular retinoblastoma cells in the anterior chamber angle and trabecular meshwork without subconjunctival extension and in the nasal ciliary body, pars plana, internal limiting membrane, and optic nerve head anterior to the cribriform plate. The patient is without local or systemic recurrences at age 50, 11 years after the last eye was enucleated. CONCLUSIONS: This report shows that retinoblastoma patients may have tumor growth in their fellow eye 25 years after the first eye and also that Elschnig's after-cataract pearls still can arise after irradiation of a lens with 45 Gy.
Adult↗
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease.
PURPOSE: The surgical excision of retinal vascular lesions including hemangioblastomas is rarely practiced. This study investigates the pathological characteristics of 4 patients (3 with von Hippel-Lindau [VHL] disease and 1 with a vasoproliferative retinal tumor) who underwent ocular tumor resection. von Hippel-Lindau is an autosomal dominant disease caused by a defect of the VHL tumor suppressor gene. The VHL protein is required for oxygen-dependent degradation of hypoxia-inducible factor 1alpha. This factor regulates vascular endothelial growth factor (VEGF) and the chemokine receptor CXCR4. Retinal hemangioblastoma is the most common tumor observed in VHL disease. We investigated the expression of CXCR4; its ligand, CXCL12/SDF-1alpha; VEGF; and the VHL gene in VHL disease-associated retinal hemangioblastomas. DESIGN: Interventional case series with immunohistological and molecular pathological analyses. PARTICIPANTS: Immunohistochemistry and molecular pathology of the surgically excised retinal lesions were performed. INTERVENTION: Large retinal hemangioblastomas (1-3 disc diameters) and vasoproliferative tumors were resected surgically after laser photocoagulation in 4 patients. The excised tissues were snap frozen and evaluated by histology. Molecular pathology was performed for the VHL gene, and immunohistochemistry and molecular detection (reverse transcription polymerase chain reaction) were carried out for VEGF, CXCR4, and CXCL12. MAIN OUTCOME MEASURES: Evaluation of clinical presentations and molecular pathology of the excised retinal lesions. RESULTS: Large retinal hemangioblastomas were resected successfully from the 3 VHL cases. Postoperatively, all patients were stable. Molecular analyses disclosed the loss of heterozygosity at the VHL allele locus in the VHL retinal hemangioblastomas but not in the vasoproliferative tumor. High levels of transcript and protein were found for VEGF and CXCR4, whereas low levels of CXCL12 mRNA were expressed in the retinal hemangioblastomas associated with VHL disease. In contrast, very low levels of VEGF and CXCR4 mRNA were detected in the vasoproliferative tumor. Furthermore, increased expression of VEGF and CXCR4 was detected in more active hemangioblastomas. CONCLUSIONS: Surgical resection of large retinal hemangioblastomas may be useful for therapy in selected VHL patients. Activated VHL lesions produce more VEGF. This is the first demonstration of CXCR4 expression in VHL disease-associated retinal hemangioblastomas. We suggest targeting CXCR4 as an additional therapeutic strategy for VHL disease-associated retinal hemangioblastomas.
Adolescent↗
The International Classification of Retinoblastoma predicts chemoreduction success.
PURPOSE: To evaluate the reliability of the International Classification of Retinoblastoma (ICRB) for predicting treatment success with chemoreduction (CRD). DESIGN: Noncomparative interventional case series. PARTICIPANTS: Two hundred forty-nine consecutive eyes. METHODS: All eyes were treated with CRD and were classified according to the ICRB: group A included those eyes with retinoblastoma </=3 mm; group B included those eyes with retinoblastoma >3 mm, macular location, or minor subretinal fluid; group C included those eyes with retinoblastoma with localized seeds; group D included those eyes with retinoblastoma with diffuse seeds; group E included those eyes with massive retinoblastoma necessitating enucleation. The CRD regimen included vincristine, etoposide, and carboplatin for 6 cycles plus local consolidation with thermotherapy or cryotherapy. MAIN OUTCOME MEASURE: Chemoreduction success, defined as avoidance of external beam radiotherapy or enucleation. RESULTS: Of the 249 eyes, 23 (9%) were in group A, 96 (39%) were in group B, 21 (8%) were in group C, and 109 (44%) were in group D. In this series, group E eyes were managed with enucleation. Treatment success was achieved in 100% of group A, 93% of group B, 90% of group C, and 47% of group D eyes. CONCLUSIONS: The ICRB can be of assistance in predicting CRD success for retinoblastoma. Additional treatment methods are necessary to salvage more group D eyes.
Antineoplastic Combined Chemotherapy Protocols↗
Juxtapapillary hemangioma: a case report and review of clinical features and management of von Hippel-Lindau disease.
BACKGROUND: The phakomatose von Hipple-Lindau (VHL) disease is a multisystem disorder characterized by hemangioblastomas of the central nervous system (CNS), retinal angiomas, and multiple cysts and tumors of the viscera. Retinal capillary hemangiomas are the most common manifestation of VHL disease, which can occur in the optic nerve, where it may simulate disc edema, or in the retinal periphery, which is characterized by massive retinal exudation. Both locations can result in progressive accumulation of exudates leading to a decrease in visual acuity and potentially to a serous retinal detachment. CASE REPORT: A juxtapapillary hemangioma was observed in a 72-year-old man who presented for a routine examination. The patient was asymptomatic, despite the presence of a trace afferent papillary defect. This finding had to be carefully differentiated from sectoral disc edema. Blood tests, computed tomography (CT), and magnetic resonance imaging (MRI) all had normal results. Fluorescein angiography was a valuable secondary test showing early filling of the vascular network overlying the nerve head and characteristic late hyperfluorescence. CONCLUSIONS: There are 2 distinct forms of capillary hemangiomas--the juxtapapillary tumor or the peripheral capillary hemangioma. Although both types are similar histologically, they do vary in their appearance, differential diagnosis, and treatment. In both types, fluorescein angiography is an extremely helpful ancillary test in making the initial diagnosis. This case report reviews the ocular manifestations and systemic findings associated with VHL disease.
Aged↗