Acute Exudative Polymorphous Paraneoplastic Vitelliform Maculopathy in a Patient With Carcinoma, Not Melanoma

Abstract

amplification with a normal CDH11 copy number (Figure 2). MYCN amplification may account for the aggressiveness of the ovarian tumor, as it does for highly fatal neuroblastomas. 7 The evidence indicates that the ovarian tumor was an independent retinoblastoma rather than a metastasis. While our analysis did not attempt to reveal the cell of origin that underwent malignant transformation, marker analysis revealed that it was not of ovarian origin. Instead, we speculate that it may have been a retinal cell displaced into the ovary by an unknown mechanism. Alternatively, a primitive pluripotent cell persisting in the ovary may have acquired the second RB1 and subsequent other mutations allowing the malignant transformation.

Paraneoplastic and non-paraneoplastic retinopathy and optic neuropathy: Evaluation and management

“…The first was in a patient with primary carcinomas of the breast and lung without evidence of systemic melanoma, although the authors entertained the possibility of a simultaneous regressed cutaneous melanoma or undetectable visceral melanoma. 93 The second patient had a history of clear cell sarcoma of the right big toe previously in remission, but onset of visual impairment consistent with PVM coincided with detection of metastatic clear cell carcinoma to the lung. 271 The third occurrence was in a patient with newly diagnosed metastatic lung adenocarcinoma.…”

“…To our knowledge, 23 cases of PVM, albeit under different designations, have been reported in the literature (Table 1). 14,20,33,35,69,93,120,122,136,147,148,200,214,265,271,301 All but two carried a known diagnosis of malignancy. Until recently, all known cases were associated with either choroidal or cutaneous melanomas, leading many authors to speculate these may be atypical variants of MAR; however, three recent reports demonstrated similar findings in patients with non-melanoma malignancies.…”

“…The average age of onset is 59 years (range, 33e80 years), with an equal sex distribution. 14,20,33,35,69,93,120,122,136,147,148,200,214,265,271,301 The most common presentation is nyctalopia, although some patients experienced blurry vision, metamorphopsia, shimmering photopsias, glare, and halos. Clinically, PVM may more closely resemble other vitelliform retinopathies, such as acute exudative polymorphous vitelliform maculopathy, or the multifocal variant of Best's disease, than MAR or CAR.…”

“…14,33,69,93,120,122,136,147,148,200,214,265,271 Involvement is typically bilateral, and although most cases associated with choroidal melanoma were in monocular patients, two treated with plaque brachytherapy alone had bilateral fundus lesions consistent with PVM. 14,B FA typically demonstrates blockage of background choroidal fluorescence by the vitelliform lesions with late staining, 14,20,93,122,136,148,200,265 although in some cases the lesions displayed a mild early hyperfluorescence. 14,120,147,214,265,271 There is little, if any, leakage of dye into the corresponding subretinal space.…”

“…Corresponding fundus autofluorescence shows increased fluorescence of the lesions. 20,93,214 OCT reveals multiple areas of localized serous neurosensory detachments containing optically dense debris overlying flat RPE. 14,93 The advent of high-definition spectral domain OCT has more accurately localized this accumulation of fluid and vitelliform material to the subretinal space, not beneath the RPE as had been previously suggested, although the RPE may demonstrate thickening (Fig.…”