Tara A. McCannel

Bilateral Diffuse Uveal Melanocytic Proliferation as a Precursor to Multiple Systemic Malignancies

Abstract Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare, intraocular paraneoplastic syndrome characterized by multiple, elevated, pigmented uveal lesions, diffuse thickening of the uveal tract, and rapidly progressive cataracts. We report a 70-year-old Caucasian male with an inferotemporal conjunctival-scleral pigmented lesion of the right eye. Funduscopy and ultrasonography revealed multiple elevated pigmented choroidal lesions in both eyes. Genome-wide single nucleotide polymorphism (SNP) analysis of intraoperative transscleral fine-needle aspiration biopsies from both eyes revealed a whole gain on chromosome 5. BDUMP was diagnosed, and the patient underwent a thorough systemic investigation, which was negative for an underlying malignancy; however, by maintaining a high index of suspicion, multiple malignancies were uncovered and appropriately treated over the ensuing years. This report presents the clinical, cytologic, and cytogenetic features of BDUMP, and is the first to demonstrate a novel finding of a whole gain in chromosome 5 by SNP analysis of the choroidal lesions. Additionally, this is the first case to potentially associate BDUMP and both transitional cell carcinoma of the bladder as well as renal clear cell carcinoma.

Macular Pucker in Association with RPE Adenoma: A Report of a Case and Review of the Literature

Abstract Background: Retinal pigment epithelium (RPE) adenoma is an extremely rare tumor of the posterior segment which must be differentiated from other choroidal tumors, such as choroidal nevus or melanoma. We report the case of a patient with RPE adenoma coincident with macular pucker who underwent successful pars plana vitrectomy and membrane peeling. Patient and Methods: A 58-year-old female patient was diagnosed with RPE adenoma and epiretinal membrane and subsequently underwent pars plana vitrectomy and epiretinal membrane peeling. Results: RPE adenoma was diagnosed and, following vitrectomy with membrane peeling vision, improved to 20/20 with resolution of symptoms of distortion. Sixteen months of follow-up revealed no clinical change in the RPE adenoma and stable vision. Conclusion: The diagnosis of RPE adenoma can be made upon consideration of unique clinical characteristics of these benign tumors. RPE adenoma may be more closely associated with epiretinal membrane than previously believed, given recent advances in imaging technology. We describe our management strategy, which included observation of the adenoma and surgical removal of the epiretinal membrane.