Peripapillary Hyper-Reflective Ovoid Mass-like Structures in Stickler syndrome

Tasneem Z Khatib; Antoine Safi; T R W Nixon; Stylianos Georgoulas; Giovanni Montesano; Howard Martin; Allan J Richards; Annie McNinch; Arabella V Poulson; Philip Alexander; Martin P Snead

doi:10.1016/j.oret.2024.05.008

Peripapillary Hyper-Reflective Ovoid Mass-like Structures in Stickler syndrome

Ophthalmol Retina. 2024 May 13:S2468-6530(24)00235-5. doi: 10.1016/j.oret.2024.05.008. Online ahead of print.

Affiliations

¹ Department of Ophthalmology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Clinical Neurosciences, Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; Vitreoretinal Research Group, Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.
² Department of Ophthalmology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
³ Department of Ophthalmology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Vitreoretinal Research Group, Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.
⁴ Optometry and Visual Sciences, City University of London, London, London, United Kingdom; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom.
⁵ Department of Clinical Neurosciences, Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; Vitreoretinal Research Group, Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.

PMID: 38750936
DOI: 10.1016/j.oret.2024.05.008

Abstract

Purpose: To report a previously undescribed finding of peripapillary hyper reflective ovoid mass-like structures (PHOMS) in Stickler Syndrome DESIGN: Non-comparative case series SUBJECTS: Participants, and/or Controls: 22 eyes with anomalous optic disc from 11 Stickler Syndrome patients were identified and imaged.

Methods: Intervention, or Testing: PHOMS were graded using enhanced depth imaging optical coherence tomography (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, Heidelberg, Germany) with a dense horizontal raster (15 × 10°, 97 sections) centred on the optic nerve head and graded by two independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any co-existing optic disc drusen was also assessed using EDI-OCT and autofluorescence.

Main outcome measures: 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). PHOMS were present in 91% (n=20 eyes) of imaged eyes. 70% (n=14 eyes) were type 1 Stickler Syndrome and 30% (n=6 eyes) were type 2 Stickler Syndrome. Five percent (n=1 eye) developed retinal detachment and 75% (n=15 eyes) had undergone 360^o prophylactic retinopexy. 41% (n=9) of eyes with PHOMS were present in patients with co-existing hearing loss and 13.6% (n=3) had orofacial manifestation of Stickler Syndrome in the form of a cleft palate. Seventy-five percent (n=15 eyes) of patients with PHOMS reported joint laxity or symptoms of arthritis. No co-existing optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation.

Conclusion: 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.