Acta Scientific PAEDIATRICS (ISSN: 2581-883X)

Case Report Volume 6 Issue 6

Optic Disc Drusen in a Child: A Challenging Differential Diagnosis - A Case Report

Salvatore M Carnazzo1*, Desirèe Balconara1, Francesco Caruso2 and Piero Pavone3

1Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “Policlinico-San Marco of Catania, Italy
2Postgraduate Training Program in Hygiene and Preventive Medicine Department of Biomedical Sciences, University of Catania, Italy
3Acute End Emergency Pediatric Unit, Auo Policlinico 'Rodolico-san Marco' University of Catania, Italy

*Shared Authorship: Salvatore M Carnazzo, Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “Policlinico-San Marco of Catania, Italy.

Received: April 12, 2023; Published: April 25, 2023


Optic disc drusen are calcified deposits located at the anterior optic nerve head that can cause symptoms such as amaurosis or visual defects if they are voluminous. This article discusses the pathophysiology, diagnosis, prevalence, and associated complications of optic disc drusen, highlighting the need for differential diagnosis between optic disc drusen and papilledema, which can be challenging, leading to unnecessary investigations. The article presents a case of a 5-year-old boy who presented with symptoms of headache, pain with eye movements, vomiting, and vision loss, which was ultimately diagnosed with optic disc drusen. The article emphasizes that a correct diagnosis of optic disc drusen cannot be made based solely on clinical history and funduscopy and discusses the effectiveness of different diagnostic methods, including ultrasound. This case report emphasizes the importance of differential diagnosis between optic disc drusen and papilledema and highlights the need for clinicians to be aware of the challenges in diagnosing optic disc drusen. A correct diagnosis of optic disc drusen is crucial in avoiding unnecessary and invasive investigations. The article concludes by discussing the clinical relevance of optic disc drusen and their potential to cause symptoms and be recognized in several pathologies.

Keywords:Optic Disc Drusen; Optical Coherence Tomography; Papilledema; Misdiagnosis; Visual Evoked Potentials; Pediatric; Fundus Oculi Examination


  1. Hamann S., et al. “Optic disc drusen: understanding an old problem from a new perspective”. Acta Ophthalmologica7 (2018): 673-684.
  2. Malmqvist L., et al. “Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study”. Journal of Neuroophthalmology3 (2020): 315-321.
  3. Chang MY and Pineles SL. “Optic disk drusen in children”. Survey of Ophthalmology6 (2016): 745-758.
  4. Khonsari RH., et al. “Drusen de la tête du nerf optique ou oedème papillaire? [Optic disc drusen or true papilledema?]”. Revue Neurologique (Paris)1 (2010): 32-38.
  5. Brémond-Gignac D and Milazzo S. “Drusen du nerf optique de l'enfant et complications hémorragiques [Drusen of the optic nerve in children and bleeding complications]”. Journal Français d'Ophtalmologie9 (2011): 679-82.
  6. Chang MY and Pineles SL. “Optic disk drusen in children”. Survey of Ophthalmology6 (2016): 745-758.
  7. Noval S., et al. “Visual field defects due to optic disk drusen in children”. Graefe's Archive for Clinical and Experimental Ophthalmology 10 (2013): 2445-2450.
  8. Yan Y and Liao YJ. “Updates on ophthalmic imaging features of optic disc drusen, papilledema, and optic disc edema”. Current Opinion in Neurology1 (2021): 108-115.
  9. Harraka P., et al. “Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis”. Scientific Report1 (2022): 18301.
  10. Sibony PA., et al. “Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema”. Journal of Neuroophthalmology1 (2021): 77-92.
  11. Schwartz R., et al. “A Deep Learning Framework for the Detection and Quantification of Reticular Pseudodrusen and Drusen on Optical Coherence Tomography”. Translational Vision Science and Technology 12 (2022): 3.
  12. Gise R., et al. “Diagnosis and Imaging of Optic Nerve Head Drusen”. Seminar on Ophthalmology4 (2019): 256-263.
  13. Floyd MS., et al. “Measurement of the scleral canal using optical coherence tomography in patients with optic nerve drusen”. American Journal of Ophthalmology4 (2005): 664-669.
  14. Thompson AC., et al. “Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema”. Journal of AAPOS1 (2018): 38-43.e3.
  15. Malmqvist L., et al. “Long-term evolution of superficial optic disc drusen”. Acta Ophthalmologica4 (2017): 352-356.
  16. Yi K., et al. “Imaging of optic nerve head drusen: improvements with spectral domain optical coherence tomography”. Journal of Glaucoma5 (2009): 373-378.
  17. Murthy RK., et al. “In-vivo high resolution imaging of optic nerve head drusen using spectral-domain Optical Coherence Tomography”. BMC Medical Imaging 10 (2010): 11.
  18. Pineles SL and Arnold AC. “Fluorescein angiographic identification of optic disc drusen with and without optic disc edema”. Journal of Neuroophthalmology1 (2012): 17-22.


Citation: Salvatore M Carnazzo., et al. “Optic Disc Drusen in a Child: A Challenging Differential Diagnosis - A Case Report". Acta Scientific Paediatrics 6.5 (2023): 35-37.


Copyright: © 2023 Salvatore M Carnazzo., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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Impact Factor1.197

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