Optical coherence tomography findings of a combined hamartoma of the retina and retinal pigment epithelium in a 7-year-old boy

Abstract

We report a case of Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) in a 7 year old child, presenting to us in our single institutional practice. CHR-RPE is a rare and generally benign ocular hamartoma. CHR-RPE is generally sporadic but can occasionally occur as part of neurofibromatosis, nasopharyngeal angiofibroma, Gorlin or Poland syndrome. Vast majority of previously documented cases of CHR-RPE have been published prior to the advent of optical coherence tomography (OCT).Failure to distinguish it from serious malignancies such as choroidal melanoma or retinoblastoma has led to unnecessary enucleation in the past, thus the purpose of this case report is to analyze the optical coherence tomography (OCT) characteristics of CHR-RPE involving the macula.