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A 9-year-old boy presented for ophthalmologic evaluation. His medical history included chemotherapy for a juvenile pilocytic astrocytoma of the optic chiasm. He had also been diagnosed with attention-deficit/hyperactivity disorder.
On examination, his visual acuity when wearing glasses was 20/20 in both eyes. Results of color vision testing were normal for each eye. Slitlamp examination revealed elevated pigmented lesions on the irides of both eyes and a misshapen pupil in the right eye (Figure 1). Slitlamp examination of the patient's mother revealed similar findings (Figure 2). Most of the iris lesions in the patient and his mother were located in the inferior portion of the iris.
Misshapen pupil of right eye (white arrow) and elevated pigmented lesions of the iris (black arrow).
Elevated pigmented lesions of the iris in the mother's eyes (black arrows).
What is your diagnosis?
Avery RA, Liu GT. Picture of the Month—Quiz Case. Arch Pediatr Adolesc Med. 2010;164(5):489. doi:10.1001/archpediatrics.2010.53-a