A 69-YEAR-OLD white woman who had neurofibromatosis was evaluated for painless decreasing visual acuity in her right eye during the past 2 months. Corrected visual acuities were hand motions OD and 20/25 OS. Both irides revealed multiple Lisch nodules (Figure 1). The right eye contained a large pigmented tumor extending from the macula temporally beyond the equator (Figure 2). Fluorescein angiography showed separate filling of the vessels in the choroidal mass. An ultrasonographic B-scan revealed a solid dome-shaped mass with choroidal excavation and an inferior retinal detachment (Figure 3). Moderate internal reflectivity was present on an A-scan. The tumor was 9.1 mm in height. A choroidal melanoma was suspected. Systemic evaluation showed signs of neurofibromatosis including hundreds of cutaneous skin lesions (Figure 4). The results of the workup for metastatic disease were normal. The patient was presented with several treatment options, and she decided to have the eye enucleated. Histopathologic examination of the right globe showed a choroidal melanoma composed of cells with plump spindle-shaped nuclei containing coarse chromatin and prominent nucleoli (Figure 5). Many cells contained brown melanin pigment (Figure 6). Two mitotic figures were found in 4 high-power microscopic fields. No other abnormalities of the choroid associated with neurofibromatosis were seen including ovoid bodies or proliferations of Schwann or ganglion cells.
Friedman SM, Margo CE. Choroidal Melanoma and Neurofibromatosis Type 1. Arch Ophthalmol. 1998;116(5):694-695. doi:10.1001/archopht.116.5.694