Rajan Gupta1, Adrian T Fung2, Marco Lupidi3, Rajeev R Pappuru1, Sameera Nayak1, Niroj Kumar Sahoo1, Swathi Kaliki4, Lawrence Yannuzzi5, Kate Reid6, Lianne Lim7, Riccardo Sacconi8, Vivek Dave1, Sumit Randhir Singh1, Apoorva Ayachit9, Pierre-Henry Gabrielle10, Sophie Cai11, Luiz H Lima12, Giuseppe Querques8, J Fernando Arevalo11, K Bailey Freund5, Carol L Shields7, Jay Chhablani13. 1. Smt. Kanuri Santhamma Centre for Vitreo-Retinal Diseases. 2. Westmead Hospital, Sydney, New South Wales, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia; Save Sight Institute, University of Sydney, Sydney, New South Wales, Australia. 3. Department of Biomedical and Surgical Sciences, Section of Ophthalmology, University of Perugia, S. Maria della Misericordia Hospital, Perugia, Italy. 4. The Operation Eyesight Universal Institute for Eye Cancer, L V Prasad Eye Institute, Hyderabad, India. 5. LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York, USA; Department of Ophthalmology, New York University, New York, New York, USA; Vitreous Retina Macula Consultants of New York, New York, New York, USA. 6. Department of Ophthalmology, Canberra Hospital, Canberra, Australian Capital Territory, Australia; School of Clinical Medicine, Australian National University, Canberra, Australian Capital Territory, Australia. 7. Ocular Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania, USA. 8. Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy. 9. Department of Vitreoretina, M M Joshi Eye Institute, Hubballi, Karnataka, India. 10. Ophthalmology Department, Dijon University Hospital, Dijon, France; Center for Taste and Feeding Behaviour, INRA, UMR1324, Dijon, France. 11. Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. 12. Federal University of São Paulo, São Paulo, Brazil. 13. Smt. Kanuri Santhamma Centre for Vitreo-Retinal Diseases. Electronic address: jay.chhablani@gmail.com.
Abstract
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.
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.
Authors: Thomas A Lazzarini; Hasenin Al-Khersan; Nimesh A Patel; Jonathan F Russell; Kenneth C Fan; Giselle De Oliveira; Catherin I Negron; Elias Mavrofrides; Audina M Berrocal Journal: Am J Ophthalmol Case Rep Date: 2020-10-01