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  • Title: Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome.
    Author: Kadaba P, Arepalli S, Shields JA, Shields CL.
    Journal: J AAPOS; 2014 Apr; 18(2):201-3. PubMed ID: 24698626.
    Abstract:
    A 15-month-old boy with established branchio-otic syndrome was evaluated for decreased red reflex in the left eye. Fundus examination of left eye revealed a gray epiretinal membrane with retinal traction and ill-defined macular thickening, found on ultrasonography as a dense flat region 1.7 mm in thickness. Enhanced depth imaging optical coherence tomography revealed an epiretinal membrane with macular thickening, retinal folding, and full-thickness retinal disorganization, consistent with combined hamartoma of the retina and retinal pigment epithelium. Over 5 years of follow-up, the branchio-otic syndrome was unchanged and the combined hamartoma remained stable.
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