The pigmented fundus lesions associated with familial adenomatous polyposis (FAP) often resemble those characteristic of congenital hypertrophy of the retinal pigment epithelium (CHRPE). However, some fundus lesions in FAP resemble hamartomatous lesions of the retinal pigment epithelium (RPE). Intraretinal extension of the RPE is a feature not seen in CHPRE lesions that may be unique to some of the pigmented lesions of FAP. The authors report the spectral-domain optical coherence tomography findings of the pigmented ocular lesions associated with FAP in a 10-year-old boy.
ASJC Scopus subject areas