Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders

Jonathan A Gernert; Tara Christmann; Elisabeth Kaufmann; Luisa Delazer; Isabel Kirsch; Johannes Levin; Sonja Schönecker; Urban M Fietzek; Peter Zu Eulenburg; Theresa Velten; Marina Gripshi; Klaus G Parhofer; Esther M Maier; Tania Kümpfel; Amelie S Lotz-Havla; Joachim Havla

doi:10.1016/j.ophtha.2024.12.013

Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders

Ophthalmology. 2024 Dec 13:S0161-6420(24)00777-2. doi: 10.1016/j.ophtha.2024.12.013. Online ahead of print.

Authors

Jonathan A Gernert¹, Tara Christmann¹, Elisabeth Kaufmann², Luisa Delazer², Isabel Kirsch², Johannes Levin³, Sonja Schönecker⁴, Urban M Fietzek⁵, Peter Zu Eulenburg⁶, Theresa Velten⁴, Marina Gripshi⁴, Klaus G Parhofer⁷, Esther M Maier⁸, Tania Kümpfel¹, Amelie S Lotz-Havla⁸, Joachim Havla¹

Affiliations

¹ Institute of Clinical Neuroimmunology, LMU University Hospital, LMU Munich, Munich, Germany.
² Epilepsy Center, Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
³ Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases, site Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
⁴ Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
⁵ Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany; Schön Klinik München Schwabing, Department Of Neurology and Clinical Neurophysiology, Munich, Germany.
⁶ Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany; Institute for Neuroradiology, University Hospital, LMU Munich, Munich, Germany.
⁷ Medical Department IV - Grosshadern, LMU University Hospital, LMU Munich, Munich, Germany.
⁸ Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU Munich, Munich, Germany.

PMID: 39675637
DOI: 10.1016/j.ophtha.2024.12.013

Abstract

Objective: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have been identified in ophthalmological and neurological diseases. Since PHOMS were found more frequently in these cohorts compared to healthy controls, it is assumed that the presence of PHOMS reflects a secondary disease marker of unknown significance. The extent to which disease-specific differences are reflected in PHOMS has not yet been sufficiently investigated.

Design: Monocentric, retrospective study.

Subjects: We analyzed a large cohort of persons with a broad spectrum of neurological disorders, including neuroimmunological diseases (NI, N=237), epilepsy (EPI, N=153), movement disorders (MD, N=44), intracranial hypertension (IH, N=13), and inborn errors of metabolism (IEM, N=90).

Methods: We analyzed the prevalence, location, volume, and intensity of PHOMS. PHOMS volumes were correlated with demographic and other optical coherence tomography (OCT) parameters.

Main outcome measures: Prevalence, location, volume, and intensity of PHOMS.

Results: We identified PHOMS in 7% of the analyzed eyes. PHOMS were detected in all cohorts, and their location was predominantly nasal. The median volume of all PHOMS was 0.06mm³. However, it was significantly increased in persons with IH compared to NI (p=0.009), EPI (p=0.038) and MD (p=0.027). The PHOMS volume correlated positively with the opening of the Bruch membrane and negatively with the age of the cohort after the exclusion of IH patients. Overall, PHOMS intensity was comparable to that of the optic nerve.

Conclusion: Since larger PHOMS volumes were found in individuals with IH, a mechanistic link to increased intracranial pressure can be assumed. It remains unclear whether this explanation also applies to individuals with other neurological disorders with PHOMS. Since PHOMS have a relevant influence on OCT parameters, their presence should also be considered in non-ophthalmologic scientific studies in the future.

Keywords: Optical coherence tomography; PHOMS; neurological disorders.