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

Rajan Gupta, Adrian T. Fung, Marco Lupidi, Rajeev R. Pappuru, Sameera Nayak, Niroj Kumar Sahoo, Swathi Kaliki, Lawrence Yannuzzi, Kate Reid, Lianne Lim, Riccardo Sacconi, Vivek Dave, Sumit Randhir Singh, Apoorva Ayachit, Pierre Henry Gabrielle, Sophie Cai, Luiz H. Lima, Giuseppe Querques, J. Fernando Arevalo, K. Bailey FreundCarol L. Shields, Jay Chhablani

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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%, P =.028). Conclusions: This comparative analysis identified a higher frequency of pigmentation with hypoautofluorescence, full-thickness retinal involvement, intraretinal cystoid spaces, ellipsoid zone disruption, RPE disruption, and choroidal neovascularization in peripapillary combined hamartoma. These findings suggest that lesions occurring near or at the optic nerve are associated with a more severe degree of pigmentary changes and retinal disruption than those located in the macula.

Original languageEnglish (US)
Pages (from-to)263-269
Number of pages7
JournalAmerican journal of ophthalmology
StatePublished - Apr 2019

ASJC Scopus subject areas

  • Ophthalmology


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