Masquerade Syndromes

The purpose of this investigation is to report the clinical features of patients with uveal metastases seen at a major ocular oncology center. A retrospective chart review was performed on all patients with uveal metastases evaluated at an ocular oncology outpatient facility over a 20-year period. To assess the systemic and ophthalmic features of uveal metastases. A total of 950 uveal metastases were diagnosed in 520 eyes of 420 consecutive patients. Of the 950 metastatic foci, the uveal involvement included iris in 90 (9%), ciliary body in 22 (2%), and choroid in 838 (88%). The total number of uveal metastases per eye was 1 (71%) in 370 eyes, 2 (12%) in 63 eyes, and 3 or more (17%) in 87 eyes. The mean number of uveal metastases per eye was two (median, one). Iris metastases presented most often as a yellow-to-white solitary nodule in the inferior quadrant. Ciliary body metastases typically presented as a solitary, sessile, or dome-shaped yellow mass in the inferior quadrant, but were difficult to visualize directly. The choroidal metastases typically were yellow in color, plateau shaped, and associated with subretinal fluid. In the 479 eyes with choroidal metastases, the epicenter of the main tumor was found in the macular area in 59 eyes (12%), between the macula and equator in 383 eyes (80%), and anterior to the equator in 37 eyes (8%). The mean size of the main (largest) choroidal tumor in each eye was 9 mm in base and 3 mm in thickness. At the time of ocular diagnosis, 278 patients (66%) reported a history of a primary cancer and 142 patients (34%) had no history of a cancer. Subsequent evaluation of these 142 patients after the ocular diagnosis of uveal metastasis showed a primary tumor in the lung in 50 patients (35%), breast in 10 (7%), others in 9 (6%), and no primary site was found in 73 patients (51%). Nearly half of the patients with no known primary site eventually died of diffuse metastatic disease. In the entire group of 420 patients, the uveal metastasis came from a primary cancer of the breast in 196 (47%), lung in 90 (21%), gastrointestinal tract in 18 (4%), kidney in 9 (2%), skin in 9 (2%), prostate in 9 (2%), and other cancers in 16 (4%). In 73 cases (17%), the primary site was never established despite systemic evaluation by medical oncologists. Iris, ciliary body, and choroidal metastases have typical clinical features that should suggest the diagnosis. The choroid is the most common site for uveal metastases, and the tumors occur most often in the posterior pole of the eye with an average of two tumors per eye. Approximately one third of patients have no history of primary cancer at the time of ocular diagnosis. Breast and lung cancers represent more than two thirds of the primary tumor sites.

Recent technological advances--new pathophysiological insights, new imaging techniques for diagnosis and management, and new treatments--have led to an improved understanding of central serous chorioretinopathy (CSC). The primary role of the choroid has become more widely accepted with widespread use of indocyanine green angiography. Optical coherence tomography (OCT), and particularly enhanced depth imaging OCT, demonstrate a thickened and engorged choroid. Adaptive optics, fundus autofluorescence, multifocal electroretinography, microperimetry, and contrast sensitivity testing reveal that patients with even a mild course suffer previously undetected anatomic and functional loss. Although focal laser and photodynamic therapy are the current standard of care for persistent subretinal fluid in CSC, they are not appropriate in all cases, and the optimal timing of intervention remains unclear. Published by Elsevier Inc.

In this report, we explore retinoblastoma diagnostic accuracy and review chemotherapy alternatives for retinoblastoma using intravenous, intra-arterial, periocular, and intravitreal routes. A review of 2775 patients referred for management of retinoblastoma, disclosed 78% with confirmed retinoblastoma and 22% with simulating lesions, termed pseudoretinoblastomas. Children ≤2 years old showed leading pseudoretinoblastomas of persistent fetal vasculature, Coats disease, and vitreous haemorrhage, whereas those >5 years showed simulators of Coats, toxocariasis, and familial exudative vitreoretinopathy. The diagnosis of retinoblastoma should be established before planning therapeutic strategy. Chemotherapy strategy depends on tumour laterality and stage of disease. If bilateral retinoblastoma, intravenous chemotherapy (IVC) is important as first-line therapy for control of intraocular disease, prevention of metastasis, and reduction in prevalence of pinealoblastoma and long-term second malignant neoplasms. Bilateral groups D and E retinoblastoma receive additional subtenon's carboplatin boost for improved local control. If unilateral disease is present, then intra-arterial chemotherapy (IAC) is often considered. IAC can be salvage therapy following chemoreduction failure. Unilateral retinoblastoma of groups D and E are managed with enucleation or globe-conserving IVC and/or IAC. Intravitreal chemotherapy is cautiously reserved for recurrent vitreous seeds following other therapies. In conclusion, the strategy for retinoblastoma management with chemotherapy depends on tumour laterality and stage of disease. Bilateral retinoblastoma is most often managed with IVC and unilateral retinoblastoma with IAC, but if advanced stage, combination IVC plus IAC or enucleation.