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Grand Rounds What We See Can Be Deceiving

This Grand Rounds presentation discusses the case of a 5-year-old patient presenting with optic disc edema. The differential diagnosis, diagnostic workup, and management of optic disc drusen in children are discussed.

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Grand Rounds What We See Can Be Deceiving

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  1. Grand RoundsWhat We See Can Be Deceiving Casey O’Shea, MD PGY-2 September 28,2018

  2. Patient Presentation CC Ophthalmology consulted to evaluate for optic disc edema in a 5 yo M HPI 5 yo M w/ no significant PMH. Per mother, 1 month history of headache, vomiting after waking up in the morning and sometimes walking off-balance Seen by optometry for school screening w/ concern for optic disc edema and sent to ED.

  3. History (Hx) Past Ocular Hx - None Past Medical Hx - None FamHx– No pertinent FH Meds - None Allergies - NKDA Social Hx – Lives at home with parents and two siblings Immunizations: Up to date ROS – Negative except as above

  4. ED Workup • MRI/MRV performed that showed no mass lesion, thrombosis, evidence of hemorrhage or other pathology • LP scheduled to evaluate opening pressure and cytology • Ophthalmology consulted for further evaluation of optic nerves

  5. External Exam

  6. Anterior Segment Exam

  7. Posterior Segment Exam

  8. Further Workup • Fundus Photos

  9. Ancillary Testing • Lumbar Puncture • Opening Pressure 17 mmHg • CSF studies • Fluid appeared clear, no xanthochromia • Glucose 57 (nl 40-70) • Protein 27 (nl 12-60) • WBC 0 • RBC 0

  10. Assessment • 5 yo M w/ bilateral optic nerve elevation with normal MRI and normal opening pressure • Differential Diagnosis • Pseudopapilledema (Optic Nerve Drusen) • True optic disc edema • Idiopathic Intracranial Hypertension • Intracranial mass • Neoplastic infiltration • Rheumatologic (e.gsarcoidosis) • Bilateral Optic Neuritis • Meningitis

  11. Plan • Given normal MRI and LP with concern for optic nerve drusen, B-Scan was performed

  12. Further Workup • B-Scan • Hyperreflective echo suggestive of Drusen

  13. Discussion • What are optic disc drusen? • First described in 1858 by Heinrich Muller • Intra/extracellular colloidal substance mostly made up of mucoprotein matrix with acid mucopolysaccharides, RNA and trace iron that calcifies • Mechanism unclear • Thought to form by abnormality in axoplasmic transport in patients with crowded optic disc • Axon rupture, release mitochondria that calcify over time

  14. Discussion • Pathology • Anterior to lamina cribrosa • Stains positively for calcium • Presentation • Often asymptomatic, found incidentally • May present with peripheral field loss • Transient visual obscurations, “flickers” http://peir.path.uab.edu/library/picture.php?/24252

  15. Discussion • Epidemiology • Found in up to 2% of adults, 1% of children • Majority bilateral • More common in whites than blacks • Slight F:M predominance in adults (56%), no sex predilection in children • Often buried in children – migrate forward, enlarge as age • increased frequency in RP, Angioid streaks, Alagille syndrome • Risk Factors • Family History • Small optic disc size • Vascular dysplasia of optic disc

  16. Diagnosis • Diagnosis • Must rule out papilledema, mass lesion • B-Scan has been gold standard https://www.chop.edu/news/neuro-ophthalmology-quiz

  17. CT Scan • CT scan can detect calcification but often misses small drusen due to thickness of slice • Not ideal for children Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9332

  18. FA and FAF • Good for superficial drusen, help differentiate from disc edema due to lack of leakage with drusen Chiang, J., et al. Pineles et al.

  19. EDI-OCT • EDI-OCT has shown to be superior to SD-OCT and B-Scan for buried ODD http://cms.galenos.com.tr/Uploads/Article_12652/232-236-ing.pdf

  20. Discussion Journal of Neuroophthalmology 2018 • Goal to develop reliable, consistent diagnosis of ODD • Eliminates subretinalhyporeflective space, visualize entire ON head to lamina cribrosa • Fellows and researchers developed protocol to create • Consensus for identifying known ODD • Detection of absence/presence • Grading • Recommendations

  21. Diagnosis Criteria

  22. Discussion • Sequelae • AION most common ischemic complication and most common cause of vision loss • Enlarging drusen in crowded nerve  compression • CRAO/CRVO • Hemorrhages reported to be up to 14% • Possibly due to erosion from compression • CNV has been reported in patients as young as 3 years, usually occurs nasally • Evidence of progressive VF loss, pRNFL thinning • VF loss assoc w/ age, visual defects, superficial and calcified drusen

  23. Discussion • Treatment • No accepted treatment • Follow up • Monitoring for CNV, visual field loss • Similar to glaucoma in that challenges in tracking disease activity and determining how structure affects visual field loss

  24. Take Home Points • Optic disc edema may not be what it seems – rule out life-threatening causes first • B-scan or OCT are best for evaluation • Follow patients regularly to evaluate for progression, VF losses or possible ischemic events

  25. References Rotruck Jill, J., A Review of Optic Disc Drusen in Children. International Ophthalmology Clinics, 2018. 58(4): p. 67-82. Kurz- A comparison of imaging techniques for diagnosing drusen of the optic nerve head. Archives of Ophthalmology, 1999. 117(8): p. 1045-1049. Tso, M.O., Pathology and pathogenesis of drusen of the optic nervehead. Ophthalmology, 1981. 88(10): p. 1066-80. Malmqvist, L., et al., The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. J Neuroophthalmol, 2018. 38(3): p. 299-307. Silverman, A.L., et al., Assessment of Optic Nerve Head Drusen Using Enhanced Depth Imaging and Swept Source Optical Coherence Tomography. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2014. 34(2): p. 198-205. Hamann, S., L. Malmqvist, and F. Costello, Optic disc drusen: understanding an old problem from a new perspective.ActaOphthalmol, 2018. Chiang, J., et al., The usefulness of multimodal imaging for differentiating pseudopapilloedema and true swelling of the optic nerve head: A review and case series. Vol. 98. 2014. Merchant, K.Y., et al., Enhanced Depth Imaging Optical Coherence Tomography of Optic Nerve Head Drusen. Ophthalmology, 2013. 120(7): p. 1409-1414.

  26. Questions?

  27. AAO 2012 • 32 eyes with definite ONHD, 25 with Suspected, and 11 normal-appearing fellow eyes • EDI OCT detects lesions likely representing ONHD more often and better characterizes structure than conventional B scan

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