A young boy was found to have a combined hamartoma of the retina and retinal pigment epithelium in the right eye (Figure) and an epiretinal membrane in the left eye, which led to the diagnosis of bilateral acoustic neuromas and subsequently neurofibromatosis type 2. No other family members were affected and initial presentation to the eye clinic was more than 5 years earlier, at age 5 months. The most recent best-corrected Snellen visual acuity was 20/1000 OD and 20/100 OS.
Chin EK, Almeida DRP, Boldt HC. Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. JAMA Ophthalmol. 2015;133(9):e151289. doi:10.1001/jamaophthalmol.2015.1289
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