Peripapillary Versus Macular Combined Hamartoma of the Retina and Retinal Pigment Epithelium: Imaging Characteristics

{PURPOSE: To compare clinical, optical coherence tomography (OCT), and fundus autofluorescence (FAF) characteristics of peripapillary vs macular variants of combined hamartoma of the retina and retinal pigment epithelium (combined hamartoma). DESIGN: Retrospective observational, comparative case series. METHODS: SETTING: Multicenter collaborative study. STUDY POPULATION: Fifty eyes with a clinical diagnosis of combined hamartoma. OBSERVATIONAL ANALYSIS: A comparative analysis of color fundus photographs (CFPs), OCT, and FAF was performed for peripapillary and macular variants of combined hamartoma. MAIN OUTCOME MEASURES: Pigmentation and OCT features of macular and peripapillary combined hamartoma. RESULTS: The review of imaging from 50 eyes of 49 patients diagnosed with combined hamartoma identified 18 (36%) peripapillary lesions, 27 (54%) macular lesions, and 5 (10%) peripheral lesions. A comparative analysis of peripapillary vs macular combined hamartoma identified differences in the following features: lesion pigmentation on CFPs corresponding to hypoautofluorescent FAF (88% vs 0%, P < .001) and OCT features of full-thickness involvement (88% vs 3%, P < .001), preretinal fibrosis (27% vs 81%, P < .001), maxi peaks (5% vs 88%, P < .001), intraretinal cystoid spaces (72% vs 40%, P < .038), outer plexiform layer involvement (5% vs 96%, P < .001), ellipsoid zone disruption (83% vs 3%, P < .001), RPE disruption (77% vs 3%, P < .001), and choroidal neovascularization (16% vs 0%