Optic disc drusen: new hypotheses on systemic calcification
Main Article Content
Abstract
Optic disc drusen (ODD) are acellular calcified deposits within the optic nerve head. They arise early in life, usually remain asymptomatic with a benign prognosis, and they are most often clinically relevant as they can be mistaken for papilloedema, can result in asymptomatic optic nerve thinning resembling glaucoma, or can have complications such as anterior ischaemic optic neuropathy with sudden loss of vision. There is still a lot of uncertainty about the pathogenesis of ODD, and prognostic factors for vision loss in the long term. The strongest association of ODD is with pseudoxanthoma elasticum, a condition of systemic ectopic calcification. Understanding the shared biochemical pathways underlying pseudoxanthoma elasticum and other conditions with the same phenotype, highlights pyrophosphate as an important factor in ectopic calcification and a potential therapy.
Keywords:
ystemic calcification, Optic disc drusen
Article Details
How to Cite
JIAO, Yuanzhang; GALE, Jesse.
Optic disc drusen: new hypotheses on systemic calcification.
Medical Research Archives, [S.l.], v. 11, n. 12, dec. 2023.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/4852>. Date accessed: 21 nov. 2024.
doi: https://doi.org/10.18103/mra.v11i12.4852.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
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3. Hamann S, Malmqvist L, Wegener M, Fard MA, Biousse V, Bursztyn L, Citirak G, Costello F, Crum AV, Digre K, Fraser JA, Huna-Baron R, Katz B, Lawlor M, Newman NJ, Peragallo JH, Petzold A, Sibony PA, Subramanian PS, Warner JEA, Wong SH, Fraser CL, Optic Disc Drusen Studies C. Young Adults With Anterior Ischemic Optic Neuropathy: A Multicenter Optic Disc Drusen Study. Am J Ophthalmol 2020; 217: 174-81.
4. Johannesen RG, Lykkebirk L, Jorgensen M, Malmqvist L, Hamann S. Optic Nerve Head Anatomy and Vascular Risk Factors in Patients With Optic Disc Drusen Associated Anterior Ischemic Optic Neuropathy. Am J Ophthalmol 2022; 242: 156-64.
5. Ruelokke LL, Malmqvist L, Wegener M, Hamann S. Optic Disc Drusen Associated Anterior Ischemic Optic Neuropathy: Prevalence of Comorbidities and Vascular Risk Factors. J Neuroophthalmol 2020; 40: 356-61.
6. Purvin V, King R, Kawasaki A, Yee R. Anterior ischemic optic neuropathy in eyes with optic disc drusen. Arch Ophthalmol 2004; 122: 48-53.
7. Lorentzen SE. Drusen of the optic disk. A clinical and genetic study. Acta Ophthalmol (Copenh) 1966: Suppl 90:1-180.
8. Friedman AH, Gartner S, Modi SS. Drusen of the optic disc. A retrospective study in cadaver eyes. Br J Ophthalmol 1975; 59: 413-21.
9. Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen. Surv Ophthalmol 2002; 47: 515-32.
10. Malmqvist L, Li XQ, Eckmann CL, Skovgaard AM, Olsen EM, Larsen M, Munch IC, Hamann S. Optic Disc Drusen in Children: The Copenhagen Child Cohort 2000 Eye Study. J Neuroophthalmol 2017.
11. Tso MO. Pathology and pathogenesis of drusen of the optic nervehead. Ophthalmology 1981; 88: 1066-80.
12. Chang MY, Federico GV, Demer JL, Bonelli L, Quiros PA, Arnold AC, Sadun AA, Pineles SL. Accuracy of Diagnostic Imaging Modalities for Classifying Pediatric Eyes as Papilledema Versus Pseudopapilledema. Ophthalmology 2017; 124: 1839-48.
13. Pineles SL, Arnold AC. Fluorescein angiographic identification of optic disc drusen with and without optic disc edema. J Neuroophthalmol 2012; 32: 17-22.
14. Costello F, Rothenbuehler SP, Sibony PA, Hamann S, Optic Disc Drusen Studies C. Diagnosing Optic Disc Drusen in the Modern Imaging Era: A Practical Approach. Neuroophthalmology 2021; 45: 1-16.
15. Merchant KY, Su D, Park SC, Qayum S, Banik R, Liebmann JM, Ritch R. Enhanced depth imaging optical coherence tomography of optic nerve head drusen. Ophthalmology 2013; 120: 1409-14.
16. Malmqvist L, Bursztyn L, Costello F, Digre K, Fraser JA, Fraser C, Katz B, Lawlor M, Petzold A, Sibony P, Warner J, Wegener M, Wong S, Hamann S. The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. J Neuroophthalmol 2017.
17. Silverman AL, Tatham AJ, Medeiros FA, Weinreb RN. Assessment of optic nerve head drusen using enhanced depth imaging and swept source optical coherence tomography. J Neuroophthalmol 2014; 34: 198-205.
18. Sim PY, Soomro H, Karampelas M, Barampouti F. Enhanced Depth Imaging Optical Coherence Tomography of Optic Nerve Head Drusen in Children. J Neuroophthalmol 2020; 40: 498-503.
19. Ghassibi MP, Chien JL, Abumasmah RK, Liebmann JM, Ritch R, Park SC. Optic Nerve Head Drusen Prevalence and Associated Factors in Clinically Normal Subjects Measured Using Optical Coherence Tomography. Ophthalmology 2017; 124: 320-5.
20. Malmqvist L, Li XQ, Hansen MH, Thomsen AK, Skovgaard AM, Olsen EM, Larsen M, Munch IC, Hamann S. Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study. J Neuroophthalmol 2020; 40: 315-21.
21. Savino PJ, Glaser JS, Rosenberg MA. A clinical analysis of pseudopapilledema. II. Visual field defects. Arch Ophthalmol 1979; 97: 71-5.
22. Gise R, Heidary G. The visual morbidity of optic nerve head drusen: a longitudinal review. J AAPOS 2023; 27: 30 e1- e5.
23. Spencer TS, Katz BJ, Weber SW, Digre KB. Progression from anomalous optic discs to visible optic disc drusen. J Neuroophthalmol 2004; 24: 297-8.
24. Seo du R, Park SH. Case of rapidly progressing buried optic nerve head drusen. JAMA ophthalmology 2015; 133: e143467.
25. Frisen L. Evolution of drusen of the optic nerve head over 23 years. Acta ophthalmologica 2008; 86: 111-2.
26. Malmqvist L, Hamann S. Photographic Documentation of Optic Disc Drusen Over More Than 50 Years. JAMA ophthalmology 2017; 135: e165470.
27. Malmqvist L, Lund-Andersen H, Hamann S. Long-term evolution of superficial optic disc drusen. Acta ophthalmologica 2017; 95: 352-6.
28. Tonagel F, Wilhelm H, Stock L, Kelbsch C. Influence of Patient Age and Presence of Optic Disc Drusen on Fluctuations in Retinal Nerve Fiber Layer Thickness. J Neuroophthalmol 2023; 43: 348-52.
29. Lee AG, Zimmerman MB. The rate of visual field loss in optic nerve head drusen. Am J Ophthalmol 2005; 139: 1062-6.
30. Estrela T, Jammal AA, El-Dairi M, Medeiros FA. Rates of Visual Field Change in Eyes With Optic Disc Drusen. J Neuroophthalmol 2023; 43: 353-8.
31. Khan MA, Forman AR. Legal Blindness From Severe Optic Nerve Head Drusen. JAMA ophthalmology 2016; 134: e153660.
32. Malmqvist L, Kyhnel A, Hamann S. Substantial Visual Field Loss Associated With Giant Optic Disc Drusen. JAMA ophthalmology 2017; 135: e174778.
33. Falardeau JM, Pineles SL, Van Stavern GP, Lee AG. Should Patients With Optic Disc Drusen Be Treated With Intraocular Pressure-Lowering Medications? J Neuroophthalmol 2020; 40: 538-43.
34. Kohli D, Chen JJ, Bhatti MT, Moore-Weiss JM, Roddy GW. Optic Disc Drusen in Patients With Ocular Hypertension: A Case Series and Review of the Literature. J Neuroophthalmol 2022; 42: 470-5.
35. Palmer E, Gale J, Crowston JG, Wells AP. Optic Nerve Head Drusen: An Update. Neuroophthalmology 2018; 42: 367-84.
36. Kapur R, Pulido JS, Abraham JL, Sharma M, Buerk B, Edward DP. Histologic findings after surgical excision of optic nerve head drusen. Retina 2008; 28: 143-6.
37. Friedman AH, Beckerman B, Gold DH, Walsh JB, Gartner S. Drusen of the optic disc. Surv Ophthalmol 1977; 21: 373-90.
38. Müller H. Beitrage zur Ophthalmologie. Albrecht von Graefes Arch Klin Ophthalmol 1858; 4: 1-40.
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