Combined Hamartoma of the Retina and RPE

A 6-year-old boy was referred to our clinic for evaluation of his epiretinal membrane. He was born at full-term to a healthy mother with an uncomplicated pregnancy and delivery. He was noted to have difficulty reading in school and to move close to the television for the past year.

FINDINGS AND DIAGNOSIS

On presentation, his uncorrected distance VA was 20/60 OD and 20/25 OS, and his near VA was 20/20 OU. Slit lamp examination of the anterior segment was normal; the posterior pole demonstrated peripapillary thickening of the retina in each eye, with mixed hyper- and hypopigmentation and a prominent white fibrotic epiretinal membrane in his right eye (Figure 1).

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Figure 1. Photograph by Vivian Mok, COA, Dartmouth Hitchcock Medical Center, Hanover, New Hampshire

Cycloplegic refraction demonstrated low symmetric hyperopia but no indication for glasses. Based on these findings, the patient was diagnosed with hamartoma of the retina and retinal pigment epithelium.

WATCH IT CLOSELY

The patient has been regularly monitored every 6 months, with alternating care provided by pediatric ophthalmology and retina. Visual acuity, fundus examination, and OCT results have remained stable for the past 5 years (Figure 2). When the patient is a teenager, a fluorescein angiogram will be pursued to better characterize the lesions.

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Figure 2. Photograph by Vivian Mok, COA, Dartmouth Hitchcock Medical Center, Hanover, New Hampshire