TY - JOUR
T1 - Peripapillary Versus Macular Combined Hamartoma of the Retina and Retinal Pigment Epithelium
T2 - Imaging Characteristics
AU - Gupta, Rajan
AU - Fung, Adrian T.
AU - Lupidi, Marco
AU - Pappuru, Rajeev R.
AU - Nayak, Sameera
AU - Sahoo, Niroj Kumar
AU - Kaliki, Swathi
AU - Yannuzzi, Lawrence
AU - Reid, Kate
AU - Lim, Lianne
AU - Sacconi, Riccardo
AU - Dave, Vivek
AU - Singh, Sumit Randhir
AU - Ayachit, Apoorva
AU - Gabrielle, Pierre Henry
AU - Cai, Sophie
AU - Lima, Luiz H.
AU - Querques, Giuseppe
AU - Arevalo, J. Fernando
AU - Freund, K. Bailey
AU - Shields, Carol L.
AU - Chhablani, Jay
N1 - Publisher Copyright:
© 2019 Elsevier Inc.
PY - 2019/4
Y1 - 2019/4
N2 - 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.
AB - 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.
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U2 - 10.1016/j.ajo.2019.01.016
DO - 10.1016/j.ajo.2019.01.016
M3 - Article
C2 - 30689986
AN - SCOPUS:85062036562
SN - 0002-9394
VL - 200
SP - 263
EP - 269
JO - American journal of ophthalmology
JF - American journal of ophthalmology
ER -