Question of the Week

A 14-year-old girl was referred by her pediatrician for 6 months of blurry vision. At the first examination, her best-corrected visual acuity was 20/40 in the right eye and 20/40 in the left eye. Past medical history shared by her pediatrician also noted ocular melanocytosis, prominent axillary freckling, soft bumps on her back, and 7 cutaneous cafe au lait spots that have been present since childhood. A key slit lamp examination finding is shown.

What are the suspected findings shown from the slit lamp exam?

A. Brushfield spots

B. Mammillations

C. Lisch nodules

D. Ocular freckles

Answer

Correct: B

The presenting patient is described as having Neurofibromatosis-1 (NF-1). Although NF-1 commonly presents with Lisch nodules, iris mammillations have a distinctive appearance and are always the same color as the rest of the iris. In contrast, Lisch nodules are lighter than the rest of the iris when the iris in question is dark, but darker than the rest when the iris is light. Additionally, ocular melanocytosis (shown below) is often associated with iris mammillations (and not Lisch nodules). Brushfield spots are typically white or gray and are associated with Down syndrome. Ocular freckles are colored growths on the surface of the eye, similar to a mole on the skin.