Skip to main content

Advertisement

SpringerLink
Log in

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber’s hereditary optic neuropathy

  • Neurophthalmology
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Bassi ST, Mohana KP (2014) Optical coherence tomography in papilledema and pseudopapilledema with and without optic nerve head drusen. Indian J Ophthalmol 62(12):1146–1151

    Article  PubMed  PubMed Central  Google Scholar 

  2. Pichi F, Romano S, Villani E et al (2014) Spectral-domain optical coherence tomography findings in pediatric tilted disc syndrome. Graefe’s Arch Clin Exp Ophthalmol 252(10):1661–1667

    Article  Google Scholar 

  3. Malmqvist L, Bursztyn L, Costello F et al (2018) The optic disc drusen studies consortium recommendations for diagnosis of optic disc drusen using optical coherence tomography. J Neuro-Ophthalmology 38(3):299–307

    Article  Google Scholar 

  4. Wang DD, Leong JCY, Gale J, Wells AP (2018) Multimodal imaging of buried optic nerve head drusen. Eye 32(6):1145–1146

    Article  PubMed  PubMed Central  Google Scholar 

  5. Shinohara K, Moriyama M, Shimada N et al (2013) Analyses of shape of eyes and structure of optic nerves in eyes with tilted disc syndrome by swept-source optical coherence tomography and three-dimensional magnetic resonance imaging. Eye 27(11):1233–1241

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Sibony PA, Kupersmith MJ (2016) Paton’s folds revisited: wrinkles, folds and creases in papilledema. Ophthalmology 123(6):1397–1399

    Article  PubMed  Google Scholar 

  7. Tso MO (1981) Pathology and pathogenesis of drusen of the optic nervehead. Ophthalmology 88(10):1066–1080

    Article  CAS  PubMed  Google Scholar 

  8. Malmqvist L, Bursztyn L, Costello F et al (2018) Peripapillary hyperreflective ovoid mass-like structures: is it optic disc drusen or not?: response. J Neuro-Ophthalmology 38(4):568–570

    Article  Google Scholar 

  9. Carelli V, Ross-Cisneros FN, Sadun AA (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23(1):53–89

    Article  CAS  PubMed  Google Scholar 

  10. Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30(2):81–114

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Carelli V, La Morgia C, Iommarini L et al (2007) Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep 27(1–3):173–184

    Article  CAS  PubMed  Google Scholar 

  12. Newman NJ (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 140(3):517–523

    Article  CAS  PubMed  Google Scholar 

  13. Sadun AA, Win PH, Ross-Cisneros FN et al (2000) Leber’s hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 98:223–232

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Pan BX, Ross-Cisneros FN, Carelli V et al (2012) Mathematically modeling the involvement of axons in Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 53(12):7608–7617

    Article  PubMed  PubMed Central  Google Scholar 

  15. Sadun AA, La Morgia C, Carelli V (2013) Mitochondrial optic neuropathies: our travels from bench to bedside and back again. Clin Exp Ophthalmol 41:702–712

    Article  PubMed  Google Scholar 

  16. Barboni P, Carbonelli M, Savini G et al (2010) Natural history of Leber’s hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. Ophthalmology 117:623–627

    Article  PubMed  Google Scholar 

  17. Man PYW, Griffiths PG, Brown DT et al (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72:333–339

    Article  CAS  Google Scholar 

  18. Hwang TJ, Karanjia R, Moraes-Filho MN et al (2017) Natural history of conversion of Leber’s hereditary optic neuropathy: a prospective case series. Ophthalmology 124:843–850

    Article  PubMed  Google Scholar 

  19. Barboni P, Savini G, Valentino ML et al (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber’s hereditary optic neuropathy mutations. Ophthalmology 112:127–131

    Article  PubMed  Google Scholar 

  20. Borrelli E, Barboni P, Battista M et al (2021) Peripapillary hyperreflective ovoid mass-like structures (PHOMS): OCTA may reveal new findings. Eye (Lond) 35:528–531

    Article  CAS  PubMed  Google Scholar 

  21. Wang D, Liu H-L, Du Y-Y et al (2021) Characterisation of thickness changes in the peripapillary retinal nerve fibre layer in patients with Leber’s hereditary optic neuropathy. Br J Ophthalmol 105:1166 LP – 1171

    Article  Google Scholar 

  22. Balducci N, Savini G, Cascavilla ML et al (2016) Macular nerve fibre and ganglion cell layer changes in acute Leber’s hereditary optic neuropathy. Br J Ophthalmol 100:1232–1237

    Article  PubMed  Google Scholar 

  23. Borrelli E, Balasubramanian S, Triolo G et al (2018) Topographic macular microvascular changes and correlation with visual loss in chronic Leber hereditary optic neuropathy. Am J Ophthalmol 192:217–228

    Article  PubMed  Google Scholar 

  24. Borrelli E, Berni A, Cascavilla ML et al (2023) Visual outcomes and optical coherence tomography biomarkers of vision improvement in patients with Leber hereditary optic neuropathy treated with idebenone. Am J Ophthalmol 247:35–41

    Article  CAS  PubMed  Google Scholar 

  25. Carbonelli M, La Morgia C, Romagnoli M et al (2022) Capturing the pattern of transition from carrier to affected in Leber hereditary optic neuropathy. Am J Ophthalmol 241:71–79

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Vita-Salute San Raffaele University, Milan, Italy

    Enrico Borrelli, Maria Lucia Cascavilla, Giorgio Lari, Marco Battista, Alessandro Berni, Costanza Barresi, Francesco Bandello & Piero Barboni

  2. IRCCS San Raffaele Scientific Institute, Milan, Italy

    Enrico Borrelli, Maria Lucia Cascavilla, Giorgio Lari, Marco Battista, Alessandro Berni, Costanza Barresi, Francesco Bandello & Piero Barboni

  3. Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy

    Anna Maria De Negri

  4. Studio Oculistico d’Azeglio, Bologna, Italy

    Alice Galzignato, Catarina Coutinho & Piero Barboni

  5. Department of Ophthalmology, University Hospital of Parma, Parma, Italy

    Guido Ricciotti

Authors
  1. Enrico Borrelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Maria Lucia Cascavilla
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Giorgio Lari
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Anna Maria De Negri
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Marco Battista
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Alice Galzignato
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Catarina Coutinho
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Alessandro Berni
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Costanza Barresi
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Guido Ricciotti
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Francesco Bandello
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Piero Barboni
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Enrico Borrelli.

Ethics declarations

Ethical approval

This article does not contain any studies with animals performed by any of the authors. All procedures performed in studies involving human participants were in accordance with the ethical standards of the University of Turin and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Enrico Borrelli and Maria Lucia Cascavilla contributed equally to the work presented here and should therefore be regarded as equivalent authors.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Borrelli, E., Cascavilla, M.L., Lari, G. et al. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber’s hereditary optic neuropathy. Graefes Arch Clin Exp Ophthalmol 262, 261–265 (2024). https://doi.org/10.1007/s00417-023-06205-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00417-023-06205-y

Keywords

Search

Navigation