Peripapillary hyper-reflective ovoid mass-like structures (PHOMS) in AQP4-IgG-positive neuromyelitis optica spectrum disease (NMOSD) and MOG-IgG-associated disease (MOGAD)

Abstract

Background Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have recently been described as new optical coherence tomography (OCT) marker. It is not yet clear whether the occurrence of PHOMS is disease-specific or disease-spanning. PHOMS have been described in 16–18% of patients with multiple sclerosis (MS). Currently, no data on the prevalence of PHOMS in other demyelinating diseases including aquaporine-4-IgG-positive neuromyelitis optica spectrum disease (AQP4 + NMOSD) or myelin oligodendrocyte glycoprotein-IgG-associated disease (MOGAD) are reported. Methods We performed a cross-sectional, retrospective spectral domain OCT study evaluating the frequency of PHOMS in AQP4 + NMOSD (n = 47) and MOGAD (n = 44) patients. To test the association with retinal neuroaxonal damage, we compared demographic and clinical data as well as retinal layer thicknesses between eyes with vs. eyes without PHOMS. Results PHOMS were detected in 17% of AQP4 + NMOSD and 14% of MOGAD patients. Intra-cohort analysis revealed that AQP4 + NMOSD patients with PHOMS were significantly older [mean (years): 57.5 vs. 50.0; p value = 0.04]. We found no association of PHOMS with retinal neuroaxonal degeneration. In addition, in subjects with only one eye affected by PHOMS compared with the unaffected fellow eye, no differences in retinal parameters were observed (n = 4). Conclusions In summary, we found PHOMS in 17% of AQP4 + NMOSD and 14% of MOGAD patients. This is comparable to the prevalence of published MS PHOMS data. Therefore, a disease-specific occurrence of PHOMS is unlikely. Interestingly, PHOMS do not seem to depend on retinal neuroaxonal degeneration.

Peripapillary hyperreflective ovoid mass-like structures: multimodal imaging and associated diseases

“…In addition to MS, PHOMS also appears in two other demyelinating diseases. Gemert et al ( 14 ) detected PHOMS in 17% of AQP4-IgG-positive neuromyelitis optica spectrum disease patients and 14% of MOG-IgG-associated disease patients, comparable to the prevalence of PHOMS in MS patients. They revealed that the development of PHOMS was not associated with disease duration, disability, or optic nerve axonal degeneration ( 14 ).…”

“…Gemert et al ( 14 ) detected PHOMS in 17% of AQP4-IgG-positive neuromyelitis optica spectrum disease patients and 14% of MOG-IgG-associated disease patients, comparable to the prevalence of PHOMS in MS patients. They revealed that the development of PHOMS was not associated with disease duration, disability, or optic nerve axonal degeneration ( 14 ). Recently, Aziria et al ( 11 ) retrospectively analyzed 115 eyes with ON involving multiple different etiologies and reported that PHOMS is not a common structure in ON patients, which support a non-inflammatory mechanism in the formation of PHOMS ( 11 ).…”

“…Recent studies have revealed that PHOMS can appear in the optic discs of healthy humans ( Figure 3 ). Gernert et al ( 14 ) found that PHOMS were present in 4% of healthy people though Petzold et al ( 39 ) reported no PHOMS in a healthy control group containing 59 subjects. In a cohort of 1,407 children aged 11–12 years without ODD or ODE, 8.9% had PHOMS in at least one eye ( 13 ).…”

“…Recently, Aziria et al ( 11 ) retrospectively analyzed 115 eyes with ON involving multiple different etiologies and reported that PHOMS is not a common structure in ON patients, which support a non-inflammatory mechanism in the formation of PHOMS ( 11 ). Therefore, the formation mechanism of PHOMS in inflammatory demyelinating lesions may involve stasis of axoplasm flow in optic nerve fibers, impaired circulation in the lymphatic system, and increased pressure gradient across the laminar cribrosa ( 14 , 39 , 63 ). Further studies are requisite to evaluate if PHOMS correlates with the severity and prognosis of central nervous system demyelinating diseases.…”

The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis

“…Low-quality spectral-domain OCT data will be excluded from the OCT analysis. We plan to qualitatively explore concomitant OCT findings, including microcystic macular oedema (MMO) or peripapillary hyperreflective ovoid mass-like structures (PHOMS) (71,72).…”