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Answers: 2008 Series : May 13, 2008
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QOW51308
Photo courtesy of: Carol L. Shields, M.D.
Used with permission. Not to be reproduced.

A 29-year-old white woman was referred for the management of a freckle in her left eye fundus. There was a history of breast biopsy done in the past which was benign. Best corrected visual acuity was 20/20 in both eyes. Right eye examination was unremarkable. In the left eye, anterior segment examination revealed subtle episcleral pigmentation. On detailed fundus examination, a mass 3.0x2.8x1.6 mm in size was noticed over the infero-temporal edge of otpic disc. There was a modular component, 1.2x1.2x1.6 mm in the center of the main lesion as shown above.

1. The most likely diagnosis in this case is:

b -- optic disc melanocytoma

2. What investigations would you advise for confirmation of the diagnosis?

a -- fluorescein angiography (FFA)

3. The treatment is:

a -- observation and regular follow up

Optic disc melanocytoma is a classical lesion with the following features:

  • Nodular lesion over the disc with feathery margins due to the anatomic arrangement of peri-papillary nerve fibers.
  • The portion of the lesion on the adjacent choroid is less pigmented than the disc component as the overlying retinal pigment epithelium does not allow its dark color to show.
  • Fluorescein angiography (FFA) typically shows hypofluorescence throughout the angiogram, sometimes hyperfluorescence due to disc edema and retinal pigment epithelium (RPE) atrophy.
  • Melanocytoma is unilateral in 99% and undergoes malignant transformation in only 1%-2%, thus needs to be observed annually.