Long-Term Development and Progression of Peripapillary Hyper-reflective Ovoid Mass-like Structures: Two Case Reports

Clinical Correspondence Section Editors: Robert Avery, DO Karl C. Golnik, MD Caroline Froment, MD, PhD An-Guor Wang, MD Long-Term Development and Progression of Peripapillary Hyper-reflective Ovoid Mass–like Structures: Two Case Reports Min Seok Kim, MD, MSc, Jeong-Min Hwang, MD, PhD, Se Joon Woo, MD, PhD P eripapillary hyper-reflective ovoid mass–like structure (PHOMS) is a terminology based on optical coherence tomography (OCT) findings, proposed by the Optic Disc Drusen Studies Consortium in 2018 (1). The exact pathogenesis of PHOMS remains unknown; nonetheless, disc tilting due to myopia has been suggested as a shared risk factor in the pathogenesis of axoplasmic flow stasis (2). A key aspect in understanding its pathogenesis is the examination of the early stage structures of PHOMS lesions. In this article, we present 2 cases that demonstrate the early course of PHOMS development and progression with a concurrent myopic shift. both eyes was confirmed by OCT, hyper-reflective, subretinal mass with a discrete margin on OCT (Fig. 1B). Automated visual field tests were normal, and she had no visual symptoms. The SE was 25.25 D in the right eye and 24.50 D in the left eye. At 12 years of age, the smooth contour strip at the nasal disc margin became completely confluent with the optic disc in the right eye. Myopia progressed to 26.00 D in the right eye and 24.75 D in the left eye. Serial disc photographs throughout the follow-up period revealed a tilted optic disc and increased temporal peripapillary atrophy in both eyes because of the progression of myopia. En-face OCT showed a well-demarcated mass adjacent to the nasal optic disc in both eyes (Fig. 1C). Case 1 An otherwise healthy 6-year-old girl underwent bilateral rectus recession for exotropia. The patient’s bestcorrected visual acuity (BCVA) was 20/40 in both eyes with a spherical equivalent (SE) of 22.00 diopters (D) in the right eye and 21.75 D in the left eye. Fundus photography revealed a pinkish crescent nasal to the optic disc distinct from the disc margin with a lucid space between the crescent and the disc margin in both eyes (Fig. 1A). At the age of 8, optic disc photographs showed blurred disc margins without hemorrhages, exudates, or vessel obscuration in the right eye, whereas there was no change in the left eye. The SE was 24.00 D in the right eye and 23.50 D in the left eye. At the age of 9, the suspicion of PHOMS (or buried optic disc drusen) in Department of Ophthalmology (MSK, J-MH, SJW), Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea; and Retina Center (MSK), Moon’s Eye Clinic, Suwon, Korea. Supported by the National Research Foundation (NRF) of Korea grant funded by the Korean government (MSIT) (No. 2020R1F1A1072795) and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (No. HI20C2092). IRB No: Seoul National University Bundang Hospital (IRB no. B1907-550-105). The authors report no conflicts of interest. Address correspondence to Se Joon Woo, MD, PhD, Department of Ophthalmology, Seoul National University Bundang Hospital, 17382 Gumi-ro, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, South Korea; E-mail: [e-mail] e352 Case 2 A 5-year-old girl presented with an upward drift of both eyes for a period of 6 months. She had a surgical history of bilateral rectus recession and bilateral inferior oblique myectomy for infantile exotropia with inferior oblique overaction at age 1. The BCVA was 20/30 in both eyes with SE of +0.50 D and 20.50 D in the right eye and left eye, respectively. The appearance of the optic disc was normal in both eyes (Fig. 2A). At 9 years of age, fundus photography showed blurred nasal disc margins and increased temporal pallor in the right eye, but no change in the left eye. She was diagnosed with PHOMS in the right eye. The SE was 23.00 D in the right eye and 22.75 D in the left eye. At 12 years of age, the right optic disc had a distinct and irregular strip at the nasal borders. The SE was 24.75 D in the right eye and 24.50 D in the left eye. At 13 years of age, the pinkish material at the nasal disc margins became condensed in the right eye. On funduscopic examination, the left optic disc remained unchanged. The BCVA was 20/20 in both eyes with an SE of 25.25 D in the right eye and 24.50 D in the left eye. Pinkish subretinal deposits that were initially sparse and translucent became dense and confluent with the optic disc. The irregular deposits protruding from the nasal margin of the PHOMS showed funduscopic changes in shape during followKim et al: J Neuro-Ophthalmol 2022; 42: e352-e355 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Clinical Correspondence FIG. 1. A. Serial changes of disc photographs in a patient diagnosed with peripapillary hyper-reflective ovoid mass–like structures. At age 6, disc photographs show pinkish crescents that have distinct boundaries with the optic disc in both eyes. The disc margin blurring was aggravated during the follow-up period with concurrent disc tilting. B. Optical coherence tomography (OCT) image showing a subretinal hyper-reflective mass in both eyes at the age of 9. C. En-face OCT image demonstrated well-demarcated, hyper-reflective structures at the nasal border of the optic nerve head at the age of 12. up. Optical coherence tomography confirmed PHOMS in the right eye (Fig. 2B). Our cases show the longitudinal features of development and progression of PHOMS associated with myopic shift. Our cases suggest that PHOMS can be an acquired condition, not a congenital one. It has been proposed that Kim et al: J Neuro-Ophthalmol 2022; 42: e352-e355 the nature of PHOMS is a herniation of distended axons into the peripapillary retina (1). The mechanism underlying this herniation is unknown. However, another mechanism has been suggested that disc tilting due to myopic shift like our cases induces compressive stress on the optic nerve head axons and it may be associated with the development and e353 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Clinical Correspondence FIG. 2. A. Progression from normal optic disc to peripapillary hyper-reflective ovoid mass–like structures in the right eye. The pinkish material in the nasal disc margins became larger and condensed as the disc gradually tilted. The left optic disc has not changed ophthalmoscopically. B. Optical coherence tomography images showing subretinal hyper-reflective mass in the different sections of the right eye and normal shape in the left eye at the age of 13. progression of PHOMS (2,3). Studies have reported that PHOMS is often observed in small optic disc, disc edema, and myopia (2,4,5), and these conditions are associated with axonal compression and stasis, which can lead to peripapillary accumulation of axoplasmic materials. Future longitudinal studies including a larger number of cases are required to reveal the pathophysiology of PHOMS. STATEMENT OF AUTHORSHIP Category 1: a. Conception and design: J.-M. Hwang and S. J. Woo; b. Acquisition of data: M. S. Kim; c. Analysis and interpretation of data: M. S. Kim and S. J. Woo. Category 2: a. Drafting the manuscript: M. S. Kim, J.-M. Hwang, and S. J. Woo; b. Revising it for intellectual content: M. S. Kim, J.-M. Hwang, e354 and S. J. Woo. Category 3: a. 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