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JAMA Ophthalmology Clinical Challenge
February 2015

Retinal Findings Leading to a Change in Diagnosis in a Newborn Child

Author Affiliations
  • 1Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida
JAMA Ophthalmol. 2015;133(2):215-216. doi:10.1001/jamaophthalmol.2014.4770

At birth, a full-term newborn was noted to have numerous hypopigmented skin macules on the trunk, scalp, neck, face, back, and limbs after an uncomplicated pregnancy (Figure 1A). The family history was negative for any dermatologic or genetic diseases. A shave biopsy specimen of the right leg was interpreted as papillomatous epidermal hyperplasia consistent with an epidermal nevus. Because of the constellation of findings, an initial diagnosis of linear epidermal nevus syndrome was made. At age 3 months, the patient was referred for ophthalmologic examination owing to a flat, hypopigmented lesion in the left temporal iris noted by the patient’s father. On examination, the patient fixed and followed with both eyes. Pupils, motility, and binocular alignment were normal. Dilated ophthalmoscopic examination revealed a well-demarcated hypopigmented lesion originating from the retinal nerve fiber layer and protruding into the vitreous cavity of the right eye (Figure 1B). A similar lesion was seen along the left inferotemporal arcade (Figure 1C). B-scan ultrasonography revealed a 4.0 × 2.9 × 2.2-mm lesion with no calcification, no retinal detachment, and no choroidal involvement (Figure 1D). Given the suspected iris hamartoma and retinal astrocytic hamartoma, a systemic workup was commenced.

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