OBJECTIVE: To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome.
METHODS: Noncomparative case series.
METHODS: Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged.
METHODS: Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence.
METHODS: The presence of PHOMS, clinical characteristics and genetic mutations.
RESULTS: A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13-58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n = 20) of imaged eyes. Seventy percent (n = 14) were type 1 Stickler syndrome and 30% (n = 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360o prophylactic retinopexy. Thirty-two percent (n = 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n = 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n = 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation.
CONCLUSIONS: These data suggest that PHOMS are a novel finding in Stickler syndrome patients and should be considered when evaluating the optic nerves of these patients.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Growing evidence has demonstrated that peripapillary hyperreflective ovoid mass-like structures (PHOMS) are novel structures rather than a subtype of optic disc drusen. They correspond to the laterally bulging herniation of optic nerve fibers and are believed to be the marker of axoplasmic stasis. PHOMS present in a broad spectrum of diseases, including optic disc drusen, tilted disc syndrome, papilloedema, multiple sclerosis, non-arteritic anterior ischemic optic neuropathy, optic neuritis, Leber hereditary optic neuropathy, and so on. We focus on the multimodal imaging features, pathophysiological mechanisms of PHOMS, and their association with multiple diseases and healthy people in this review to deepen the ophthalmologists\' understanding of PHOMS. Additionally, we provide some new directions for future research.

UNASSIGNED: Optic disc melanocytoma (ODMC) with peripapillary hyperreflective ovoid mass-like structures (PHOMS) is rare. This study reports a case of the characteristics of multimodal imaging and Minimum intensity projection (Min-IP) images.
UNASSIGNED: A 25-year-old male patient was referred to our hospital due to the presence of a dark pigmented tumor located in the optic disc area of his left eye. The patient exhibited normal pupillary reactions and had a best corrected visual acuity of 1.0 (decimal) in both eyes. This patient underwent multimodal retinal imaging examination including color fundus photograph (CFP), B-scan ultrasonography, Fundus autofluorescence (FAF), SD-OCT (spectral-domain optical coherence tomography), OCTA (optical coherence tomography angiography), en-face Min-IP image and fluorescein angiography (FA).
UNASSIGNED: CFP revealed a slightly elevated mass lesion in the inferior quadrant of the left optic disc, the lesion appeared black to dark brown in color. B-scan ultrasonography of the left eye confirmed the presence of a hyperechoic small dome-shaped lesion. Fundus autofluorescence (FAF) analysis revealed complete hypofluorescence in this area. SD-OCT (spectral-domain optical coherence tomography) and OCTA (optical coherence tomography angiography) with Min-IP were performed over the tumor and its surrounding areas. SD-OCT showed an elevated tumor mass arising from the optic disc with increased reflectivity. PHOMS appeared ovoid in shape on B-scan OCT image. PHOMS appeared peripapillary hyperreflective bright areas on en-face Min-IP image corresponding to PHOMS on B-scan OCT image. The fluorescein angiography (FA) showed the staining of PHOMS. A diagnosis of optic disc melanocytoma with PHOMS was established prompting the patient to be advised for regular follow-up.
UNASSIGNED: The optic disc melanocytoma with PHOMS is a rare benign ocular lesion that requires minimal active intervention, but demands a lifetime follow-up. The multimodal imaging and Min-IP images have clinical diagnostic value.

OBJECTIVE: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) represent an optical coherence tomography (OCT) finding that has been characterized in different forms of pseudopapilledema. The aim of this study was to investigate the prevalence of PHOMS in patients affected by acute LHON using structural OCT, and to provide a detailed description of these findings.
METHODS: Patients with a clinical and molecularly confirmed diagnosis of acute LHON (visual loss having occurred less than 6 months) were enrolled from the neuro-ophthalmology clinic at San Raffaele Scientific Institute. Patients had a complete ophthalmologic evaluation, including imaging with structural OCT.
RESULTS: Our analysis included 16 patients (21 eyes-8 males and 8 females) with acute LHON. Structural OCT exhibited PHOMS in 12 eyes from 9 patients with a prevalence rate of 57.1%. In a subsequent topographical assessment in the peripapillary area, the most common location of PHOMS was the temporal region (12 out of 12 eyes), while the nasal region was affected in 2 eyes (16.7%). Considering the 12 eyes with PHOMS, mean ± SD temporal peripapillary RNFL thickness was 87.5 ± 28.4 microns. The temporal peripapillary RNFL thickness was significantly lower in eyes without PHOMS (63.7 ± 32.2 microns; P = 0.40). At the 12-month follow-up visit, PHOMS disappeared in 10 out of 12 eyes.
CONCLUSIONS: Acute LHON eyes have PHOMS which are mainly confined to the temporal peripapillary sector. PHOMS may represent swelled retinal fibers that have herniated or are in stasis.

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a laterally bulging herniation of distended axons into the peripapillary region above the level of Bruch\'s membrane opening. Increased use of enhanced depth imaging-optical coherence tomography (EDI-OCT) in our evaluation of the optic nerve head (ONH) and greater recognition of the vast range of optic nerve pathologies with which PHOMS is associated provides convincing evidence that PHOMS is not just buried optic disc drusen (ODD) as previously described. The frequent coexistence of PHOMS with ODD, papilloedema, anterior ischaemic optic neuropathy, tilted optic disc syndrome, inflammatory demyelinating disorders and other diseases associated with axoplasmic stasis provides insight into its underlying pathophysiology. The present review will discuss the role of key imaging modalities in the differential diagnosis of PHOMS, explore the current literature on the relationship between PHOMS and common neuro-ophthalmic conditions, and highlight the gaps in our knowledge, with respect to disease classification and prognosis, to pave the way for future directions of research.

OBJECTIVE: To observe and analyze the clinical and multi-mode imaging features of eyes with PHOMS, and to introduce two cases of PHOMS which underwent multi-mode imaging.
METHODS: Retrospective clinical observational study. A total of 26 patients (37 eyes) with hyperreflective structures surrounded by hyporeflective edges around the optic discs who were examined and diagnosed at Shandong Eye Hospital between January 2019 and June 2021 were included in the study. Among these patients, 12 were male and 14 were female. Fifteen were monocular. The average age was 39 years. All patients underwent the following examinations: Best-corrected visual acuity (BCVA), intraocular pressure examinations, slit-lamp anterior segment examinations, indirect ophthalmoscopy, visual field examinations, fundus color photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA). Some of the patients were examined with fundus fluorescein angiography (FFA). Clinical data and imaging characteristics from the OCT, OCTA, and FFA were analyzed retrospectively.
RESULTS: We found the hyperreflective structures surrounded by hyporeflective edges around the optic discs in 37 eyes. EDI-OCT results revealed hyperreflective structures surrounded by hyporeflective edges around the optic discs in all eyes. Typical hyperreflexia lesions occurred around the optic disc, located subretinally and above Bruch\'s membrane. OCTA revealed that the highly reflective perioptic material also had vascular structures.
CONCLUSIONS: EDI-OCT of PHOMS showed hyperreflective structures surrounded by hyporeflective edges around all of the optic discs. Infra-red photography showed temporal hyperreflexia. These characteristics can be seen in a variety of diseases and may be a relatively common feature revealed by EDI-OCT scanning. These characteristics may also be seen in elderly patients as well as children. PHOMS may be found in optic disc drusen (ODD), tilted disc syndrome (TDS), optic neuritis, ischemic optic neuropathy, and in white dot syndromes. Few patients may be developed into macular neovascularization (MNV). In order to improve the accuracy and robustness of the conclusions and provide better clinical guidance, we need to conduct more comprehensive research in the subsequent clinical work.