Presumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Gerardo Ledesma-Gil; Juliet Essilfie; Rajan Gupta; Adrian T Fung; Marco Lupidi; Rajeev R Pappuru; Sameera Nayak; Niroj Kumar Sahoo; Swathi Kaliki; Lawrence A Yannuzzi; Kate Reid; Lianne Lim; Riccardo Sacconi; Vivek Dave; Sumit R Singh; Apoorva Ayachit; Pierre-Henry Gabrielle; Sophie Cai; Luiz H Lima; Giuseppe Querques; J Fernando Arevalo; K Bailey Freund; Carol L Shields; Jay Chhablani

doi:10.1016/j.oret.2021.01.011

Presumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium

Ophthalmol Retina. 2021 Nov;5(11):1156-1163. doi: 10.1016/j.oret.2021.01.011. Epub 2021 Jan 28.

Authors

Gerardo Ledesma-Gil¹, Juliet Essilfie², Rajan Gupta³, Adrian T Fung⁴, Marco Lupidi⁵, Rajeev R Pappuru³, Sameera Nayak³, Niroj Kumar Sahoo³, Swathi Kaliki⁶, Lawrence A Yannuzzi⁷, Kate Reid⁸, Lianne Lim⁹, Riccardo Sacconi¹⁰, Vivek Dave³, Sumit R Singh¹¹, Apoorva Ayachit¹², Pierre-Henry Gabrielle¹³, Sophie Cai¹⁴, Luiz H Lima¹⁵, Giuseppe Querques¹⁰, J Fernando Arevalo¹⁴, K Bailey Freund⁷, Carol L Shields⁹, Jay Chhablani¹⁶

Affiliations

¹ Vitreous Retina Macula Consultants of New York, New York, New York; Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.
² Vitreous Retina Macula Consultants of New York, New York, New York; Department of Ophthalmology, Manhattan Eye, Ear and Throat Hospital, New York, New York; Department of Ophthalmology, NYU Grossman School of Medicine, New York, New York.
³ Smt. Kanuri Santhamma Centre for Vitreo-Retinal Diseases, L. V. Prasad Eye Institute, Hyderabad, India.
⁴ Westmead Hospital, Sydney, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia; Save Sight Institute, University of Sydney, Sydney, Australia.
⁵ Department of Biomedical and Surgical Sciences, Section of Ophthalmology, University of Perugia, S. Maria della Misericordia Hospital, Perugia, Italy.
⁶ The Operation Eyesight Universal Institute for Eye Cancer, L. V. Prasad Eye Institute, Hyderabad, India.
⁷ Vitreous Retina Macula Consultants of New York, New York, New York; Department of Ophthalmology, NYU Grossman School of Medicine, New York, New York; LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York.
⁸ Department of Ophthalmology, Canberra Hospital, Canberra, Australia; School of Clinical Medicine, Australian National University, Canberra, Australia.
⁹ Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
¹⁰ Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy.
¹¹ Jacobs Retina Center at Shiley Eye Institute, University of California at San Diego, La Jolla, California.
¹² Department of Vitreoretina, M. M. Joshi Eye Institute, Hubballi, Karnataka, India.
¹³ Ophthalmology Department, Dijon University Hospital, Dijon, France; Center for Taste and Feeding Behaviour, INRA, Dijon, France.
¹⁴ Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
¹⁵ Federal University of São Paulo, São Paulo, Brazil.
¹⁶ UPMC Eye Center, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address: jay.chhablani@gmail.com.

PMID: 33516918
DOI: 10.1016/j.oret.2021.01.011

Abstract

Purpose: To correlate structural changes of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) with patient age.

Design: Retrospective study.

Participants: Fifty eyes of 49 patients (age range, 1-74 years) with CHRRPE studied at 9 tertiary vitreoretinal institutions.

Methods: We analyzed the clinical findings with respect to lesion topography and pigmentation as well as investigated the OCT findings regarding the thickness, vitreoretinal interface, outer plexiform layer distortion, ellipsoid zone disruption, and retinal pigment epithelium-Bruch's membrane complex involvement of CHRRPE.

Main outcome measures: Clinical and imaging findings of CHRRPE at different ages.

Results: Analysis of 50 CHRRPE patients revealed that younger patients were more likely to demonstrate partial thickness involvement of the retina (P = 0.009) with predominantly inner retinal layer involvement (P = 0.04). The inverse was true for older patients with CHRRPE. In addition, older patients more commonly showed pigmentary changes. Eyes with CHRRPE were more likely to show an increase in central macular thickness independently of tumor location.

Conclusions: Based on these findings, we believe that CHRRPE typically begins in the inner retina and continues toward the outer retina over time, with increase in central macular thickness, despite the location of the tumor.

Keywords: Combined hamartoma of the retina and retinal pigment epithelium; Imaging.

Publication types

Multicenter Study

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
Female
Fluorescein Angiography / methods*
Fundus Oculi
Hamartoma / diagnosis*
Humans
Infant
Male
Middle Aged
Retinal Diseases / diagnosis*
Retinal Pigment Epithelium / pathology*
Retrospective Studies
Tomography, Optical Coherence / methods*
Visual Acuity*
Young Adult