Skip to main content

Pathology of the Optic Nerve and Extraocular Muscle

  • Reference work entry
  • First Online:
Albert and Jakobiec's Principles and Practice of Ophthalmology

Abstract

This chapter covers the wide-ranging area of optic nerve and extraocular muscle pathology and is divided into three parts: non-neoplastic anomalies of the optic nerve, neoplasms involving the optic nerve, and pathology of the extraocular muscle. The section on non-neoplastic anomalies of optic nerve includes discussions of congenital anomalies, optic nerve atrophy, cupping, drusen, inflammatory diseases, injury, and optic neuropathies. This is followed by a review of non-melanotic and melanotic neoplasms involving the optic nerve. The chapter concludes with a discussion of normal and pathologic extraocular muscle samples with an emphasis on the unique features of skeletal muscle at this site.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 5,499.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 6,499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Lee KM, Kim JM, Lee EJ, Kim TW. Anterior optic nerve head perfusion is dependent on adjacent parapapillary choroidal perfusion. Sci Rep. 2019;9(1):10999.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Yamashita T, Kawano K, Ohba N. Autosomal dominantly inherited optic nerve coloboma. Ophthalmic Paediatr Genet. 1988;9(1):17–24.

    Article  CAS  PubMed  Google Scholar 

  3. Skriapa Manta A, Olsson M, Ek U, Wickstrom R, Tear Fahnehjelm K. Optic disc Coloboma in children – prevalence, clinical characteristics and associated morbidity. Acta Ophthalmol. 2019;97(5):478–85.

    Article  PubMed  Google Scholar 

  4. Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, et al. Association of PAX2 and other gene mutations with the clinical manifestations of Renal coloboma syndrome. PLoS One. 2015;10(11):e0142843.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Murphy BL, Griffin JF. Optic nerve coloboma (morning glory syndrome): CT findings. Radiology. 1994;191(1):59–61.

    Article  CAS  PubMed  Google Scholar 

  6. Stromland K. Ocular abnormalities in the fetal alcohol syndrome. Acta Ophthalmol Suppl. 1985;171:1–50.

    CAS  PubMed  Google Scholar 

  7. Chen CA, Yin J, Lewis RA, Schaaf CP. Genetic causes of optic nerve hypoplasia. J Med Genet. 2017;54(7):441–9.

    Article  CAS  PubMed  Google Scholar 

  8. Lloyd RI. Variations in the development and regression of Bergmeister’s papilla and the hyaloid artery. Trans Am Ophthalmol Soc. 1940;38:326–32.

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Schnabel I. Das glaukomatose Sehnervenleiden. Arch Augenheilkd. 1982;1892(24):273–92.

    Google Scholar 

  10. Giarelli L, Falconieri G, Cameron JD, Pheley AM. Schnabel cavernous degeneration: a vascular change of the aging eye. Arch Pathol Lab Med. 2003;127(10):1314–9.

    Article  PubMed  Google Scholar 

  11. Ambati BK, Rizzo JF 3rd. Nonglaucomatous cupping of the optic disc. Int Ophthalmol Clin. 2001;41(1):139–49.

    Article  CAS  PubMed  Google Scholar 

  12. Fine BS, Yanoff M. Ocular histology; a text and atlas [by] Ben S. Fine [and] Myron Yanoff. 1st ed. New York: Medical Dept.; 1972. xii, 260 p.

    Google Scholar 

  13. Hernandez MR. The optic nerve head in glaucoma: role of astrocytes in tissue remodeling. Prog Retin Eye Res. 2000;19(3):297–321.

    Article  CAS  PubMed  Google Scholar 

  14. Springelkamp H, Hohn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883.

    Article  CAS  PubMed  Google Scholar 

  15. Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen. Surv Ophthalmol. 2002;47(6):515–32.

    Article  PubMed  Google Scholar 

  16. Rosenberg MA, Savino PJ, Glaser JS. A clinical analysis of pseudopapilledema. I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. Arch Ophthalmol. 1979;97(1):65–70.

    Article  CAS  PubMed  Google Scholar 

  17. Friedman AH, Beckerman B, Gold DH, Walsh JB, Gartner S. Drusen of the optic disc. Surv Ophthalmol. 1977;21(5):373–90.

    Article  CAS  PubMed  Google Scholar 

  18. Tso MO. Pathology and pathogenesis of drusen of the optic nervehead. Ophthalmology. 1981;88(10):1066–80.

    Article  CAS  PubMed  Google Scholar 

  19. Kelley JS. Autofluorescence of drusen of the optic nerve head. Arch Ophthalmol. 1974;92(3):263–4.

    Article  CAS  PubMed  Google Scholar 

  20. Palmer E, Gale J, Crowston JG, Wells AP. Optic nerve head Drusen: an update. Neuroophthalmology. 2018;42(6):367–84.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Buono LM, Foroozan R. Perioperative posterior ischemic optic neuropathy: review of the literature. Surv Ophthalmol. 2005;50(1):15–26.

    Article  PubMed  Google Scholar 

  22. Sadda SR, Nee M, Miller NR, Biousse V, Newman NJ, Kouzis A. Clinical spectrum of posterior ischemic optic neuropathy. Am J Ophthalmol. 2001;132(5):743–50.

    Article  CAS  PubMed  Google Scholar 

  23. Fraunfelder FW, Pomeranz HD, Egan RA. Nonarteritic anterior ischemic optic neuropathy and sildenafil. Arch Ophthalmol. 2006;124(5):733–4.

    Article  PubMed  Google Scholar 

  24. MacFaul PA. Ciliary artery involvement in giant cell arteritis. Br J Ophthalmol. 1967;51(8):505–12.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Chevez-Barrios P. Frozen section diagnosis and indications in ophthalmic pathology. Arch Pathol Lab Med. 2005;129(12):1626–34.

    Article  PubMed  Google Scholar 

  26. Sultan H, Smith SV, Lee AG, Chevez-Barrios P. Pathologic markers determining prognosis in patients with treated or healing giant cell arteritis. Am J Ophthalmol. 2018;193:45–53.

    Article  PubMed  Google Scholar 

  27. Jordan DR, Anderson RL, Nerad JA, Patrinely JR, Scrafford DB. Optic nerve involvement as the initial manifestation of sarcoidosis. Can J Ophthalmol. 1988;23(5):232–7.

    CAS  PubMed  Google Scholar 

  28. Yilmazlar S, Kocaeli H, Korfali E. Primary-isolated optic nerve sarcoidosis. Acta Neurochir. 2004;146(1):65–7.

    Article  CAS  PubMed  Google Scholar 

  29. Serdaroglu P. Behcet’s disease and the nervous system. J Neurol. 1998;245(4):197–205.

    Article  CAS  PubMed  Google Scholar 

  30. Kansu T, Kansu E, Zileli T, Kirkali P. Neuro-ophthalmologic manifestations of Behcet’s disease. Neuro-Ophthalmology. 1991;11(1):7–11.

    Article  Google Scholar 

  31. Friedlander SM, Rahhal FM, Ericson L, Arevalo JF, Hughes JD, Levi L, et al. Optic neuropathy preceding acute retinal necrosis in acquired immunodeficiency syndrome. Arch Ophthalmol. 1996;114(12):1481–5.

    Article  CAS  PubMed  Google Scholar 

  32. Wang AG, Liu JH, Hsu WM, Lee AF, Yen MY. Optic neuritis in herpes zoster ophthalmicus. Jpn J Ophthalmol. 2000;44(5):550–4.

    Article  CAS  PubMed  Google Scholar 

  33. Greven CM, Singh T, Stanton CA, Martin TJ. Optic chiasm, optic nerve, and retinal involvement secondary to varicella-zoster virus. Arch Ophthalmol. 2001;119(4):608–10.

    Article  CAS  PubMed  Google Scholar 

  34. Goldsmith P, Jones RE, Ozuzu GE, Richardson J, Ong EL. Optic neuropathy as the presenting feature of HIV infection: recovery of vision with highly active antiretroviral therapy. Br J Ophthalmol. 2000;84(5):551–3.

    Article  CAS  PubMed  Google Scholar 

  35. Cunningham ET Jr, McDonald HR, Schatz H, Johnson RN, Ai E, Grand MG. Inflammatory mass of the optic nerve head associated with systemic Bartonella henselae infection. Arch Ophthalmol. 1997;115(12):1596–7.

    Article  PubMed  Google Scholar 

  36. Fish RH, Hoskins JC, Kline LB. Toxoplasmosis neuroretinitis. Ophthalmology. 1993;100(8):1177–82.

    Article  CAS  PubMed  Google Scholar 

  37. Smith JL, Byrne SF, Cambron CR. Syphiloma/gumma of the optic nerve and human immunodeficiency virus seropositivity. J Clin Neuroophthalmol. 1990;10(3):175–84.

    CAS  PubMed  Google Scholar 

  38. Ray S, Gragoudas E. Neuroretinitis. Int Ophthalmol Clin. 2001;41(1):83–102.

    Article  CAS  PubMed  Google Scholar 

  39. Sergott RC, Belmont JB, Savino PJ, Fischer DH, Bosley TM, Schatz NJ. Optic nerve involvement in the acute retinal necrosis syndrome. Arch Ophthalmol. 1985;103(8):1160–2.

    Article  CAS  PubMed  Google Scholar 

  40. Gamaletsou MN, Sipsas NV, Roilides E, Walsh TJ. Rhino-orbital-cerebral mucormycosis. Curr Infect Dis Rep. 2012;14(4):423–34.

    Article  PubMed  Google Scholar 

  41. Gleckman AM, Evans RJ, Bell MD, Smith TW. Optic nerve damage in shaken baby syndrome: detection by beta-amyloid precursor protein immunohistochemistry. Arch Pathol Lab Med. 2000;124(2):251–6.

    Article  CAS  PubMed  Google Scholar 

  42. Bhandare N, Monroe AT, Morris CG, Bhatti MT, Mendenhall WM. Does altered fractionation influence the risk of radiation-induced optic neuropathy? Int J Radiat Oncol Biol Phys. 2005;62(4):1070–7.

    Article  PubMed  Google Scholar 

  43. Piquemal R, Cottier JP, Arsene S, Lioret E, Rospars C, Herbreteau D, et al. Radiation-induced optic neuropathy 4 years after radiation: report of a case followed up with MRI. Neuroradiology. 1998;40(7):439–41.

    Article  CAS  PubMed  Google Scholar 

  44. Subramanian PS, Bressler NM, Miller NR. Radiation retinopathy after fractionated stereotactic radiotherapy for optic nerve sheath meningioma. Ophthalmology. 2004;111(3):565–7.

    Article  PubMed  Google Scholar 

  45. Kline LB, Kim JY, Ceballos R. Radiation optic neuropathy. Ophthalmology. 1985;92(8):1118–26.

    Article  CAS  PubMed  Google Scholar 

  46. Mroczek-Tonska K, Kisiel B, Piechota J, Bartnik E. Leber hereditary optic neuropathy – a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet. 2003;44(4):529–38.

    PubMed  Google Scholar 

  47. Yu-Wai-Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002;39(3):162–9.

    Article  CAS  PubMed  Google Scholar 

  48. Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics. 2001;3(3):119–25.

    Article  CAS  PubMed  Google Scholar 

  49. Luiz JE, Lee AG, Keltner JL, Thirkill CE, Lai EC. Paraneoplastic optic neuropathy and autoantibody production in small-cell carcinoma of the lung. J Neuroophthalmol. 1998;18(3):178–81.

    Article  CAS  PubMed  Google Scholar 

  50. Sorensen TL, Frederiksen JL, Bronnum-Hansen H, Petersen HC. Optic neuritis as onset manifestation of multiple sclerosis: a nationwide, long-term survey. Neurology. 1999;53(3):473–8.

    Article  CAS  PubMed  Google Scholar 

  51. Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006;141(4):676–82.

    Article  PubMed  Google Scholar 

  52. Kovacs GG, Hoftberger R, Majtenyi K, Horvath R, Barsi P, Komoly S, et al. Neuropathology of white matter disease in Leber’s hereditary optic neuropathy. Brain. 2005;128.(Pt 1:35–41.

    Article  PubMed  Google Scholar 

  53. Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999;117(6):805–10.

    Article  CAS  PubMed  Google Scholar 

  54. Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet. 1997;99(1):115–20.

    Article  CAS  PubMed  Google Scholar 

  55. Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab. 2002;75(2):97–107.

    Article  CAS  PubMed  Google Scholar 

  56. Johnston PB, Gaster RN, Smith VC, Tripathi RC. A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol. 1979;88(5):868–75.

    Article  CAS  PubMed  Google Scholar 

  57. Lucchinetti CF, Mandler RN, McGavern D, Bruck W, Gleich G, Ransohoff RM, et al. A role for humoral mechanisms in the pathogenesis of Devic’s neuromyelitis optica. Brain. 2002;125(Pt 7):1450–61.

    Article  PubMed  Google Scholar 

  58. Lu WY, Goldman M, Young B, Davis DG. Optic nerve ganglioglioma. Case report. J Neurosurg. 1993;78(6):979–82.

    Article  CAS  PubMed  Google Scholar 

  59. Sadun F, Hinton DR, Sadun AA. Rapid growth of an optic nerve ganglioglioma in a patient with neurofibromatosis 1. Ophthalmology. 1996;103(5):794–9.

    Article  CAS  PubMed  Google Scholar 

  60. Chidambaram B, Santosh V, Balasubramaniam V. Medulloepithelioma of the optic nerve with intradural extension – report of two cases and a review of the literature. Childs Nerv Syst. 2000;16(6):329–33.

    Article  CAS  PubMed  Google Scholar 

  61. Chavez M, Mafee MF, Castillo B, Kaufman LM, Johnstone H, Edward DP. Medulloepithelioma of the optic nerve. J Pediatr Ophthalmol Strabismus. 2004;41(1):48–52.

    Article  PubMed  Google Scholar 

  62. Nerad JA, Kersten RC, Anderson RL. Hemangioblastoma of the optic nerve. Report of a case and review of literature. Ophthalmology. 1988;95(3):398–402.

    Article  CAS  PubMed  Google Scholar 

  63. Kerr DJ, Scheithauer BW, Miller GM, Ebersold MJ, McPhee TJ. Hemangioblastoma of the optic nerve: case report. Neurosurgery. 1995;36(3):573–80.

    CAS  PubMed  Google Scholar 

  64. De Potter P, Shields CL, Eagle RC Jr, Shields JA, Lipkowitz JL. Malignant melanoma of the optic nerve. Arch Ophthalmol. 1996;114(5):608–12.

    Article  PubMed  Google Scholar 

  65. Kim IK, Dryja TP, Lessell S, Gragoudas ES. Melanocytoma of the optic nerve associated with sound-induced phosphenes. Arch Ophthalmol. 2006;124(2):273–7.

    Article  PubMed  Google Scholar 

  66. Boniuk M, Messmer EP, Font RL. Hemangiopericytoma of the meninges of the optic nerve. A clinicopathologic report including electron microscopic observations. Ophthalmology. 1985;92(12):1780–7.

    Article  CAS  PubMed  Google Scholar 

  67. Kim DS, Choi JU, Yang KH, Jung JM. Optic sheath schwannomas: report of two cases. Childs Nerv Syst. 2002;18(12):684–9.

    Article  PubMed  Google Scholar 

  68. Czyzyk E, Jozwiak S, Roszkowski M, Schwartz RA. Optic pathway gliomas in children with and without neurofibromatosis 1. J Child Neurol. 2003;18(7):471–8.

    Article  PubMed  Google Scholar 

  69. Rudd A, Rees JE, Kennedy P, Weller RO, Blackwood W. Malignant optic nerve gliomas in adults. J Clin Neuroophthalmol. 1985;5(4):238–43.

    CAS  PubMed  Google Scholar 

  70. Millar WS, Tartaglino LM, Sergott RC, Friedman DP, Flanders AE. MR of malignant optic glioma of adulthood. AJNR Am J Neuroradiol. 1995;16(8):1673–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  71. Astrup J. Natural history and clinical management of optic pathway glioma. Br J Neurosurg. 2003;17(4):327–35.

    Article  CAS  PubMed  Google Scholar 

  72. Tow SL, Chandela S, Miller NR, Avellino AM. Long-term outcome in children with gliomas of the anterior visual pathway. Pediatr Neurol. 2003;28(4):262–70.

    Article  PubMed  Google Scholar 

  73. Cummings TJ, Provenzale JM, Hunter SB, Friedman AH, Klintworth GK, Bigner SH, et al. Gliomas of the optic nerve: histological, immunohistochemical (MIB-1 and p53), and MRI analysis. Acta Neuropathol. 2000;99(5):563–70.

    Article  CAS  PubMed  Google Scholar 

  74. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, World Health Organization, International Agency for Research on Cancer. WHO classification of tumours of the central nervous system. Revised 4th edition. Lyon: International Agency For Research On Cancer; 2016. 408 p.

    Google Scholar 

  75. Cykowski MD, Allen RA, Kanaly AC, Fung KM, Marshall R, Perry A, et al. The differential diagnosis of pilocytic astrocytoma with atypical features and malignant glioma: an analysis of 16 cases with emphasis on distinguishing molecular features. J Neuro-Oncol. 2013;115(3):477–86.

    Article  CAS  Google Scholar 

  76. Collins VP, Jones DT, Giannini C. Pilocytic astrocytoma: pathology, molecular mechanisms and markers. Acta Neuropathol. 2015;129(6):775–88.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  77. Lindegaard J, Heegaard S, Prause JU. Histopathologically verified non-vascular optic nerve lesions in Denmark 1940–99. Acta Ophthalmol Scand. 2002;80(1):32–7.

    Article  PubMed  Google Scholar 

  78. Saeed P, Rootman J, Nugent RA, White VA, Mackenzie IR, Koornneef L. Optic nerve sheath meningiomas. Ophthalmology. 2003;110(10):2019–30.

    Article  PubMed  Google Scholar 

  79. Margalit NS, Lesser JB, Moche J, Sen C. Meningiomas involving the optic nerve: technical aspects and outcomes for a series of 50 patients. Neurosurgery. 2003;53(3):523–32.

    Article  PubMed  Google Scholar 

  80. Miller NR. Primary tumours of the optic nerve and its sheath. Eye (Lond). 2004;18(11):1026–37.

    Article  CAS  Google Scholar 

  81. Jackson A, Patankar T, Laitt RD. Intracanalicular optic nerve meningioma: a serious diagnostic pitfall. AJNR Am J Neuroradiol. 2003;24(6):1167–70.

    PubMed  PubMed Central  Google Scholar 

  82. Ferry AP, Font RL. Carcinoma metastatic to the eye and orbit. I. A clinicopathologic study of 227 cases. Arch Ophthalmol. 1974;92(4):276–86.

    Article  CAS  PubMed  Google Scholar 

  83. Allaire GS, Corriveau C, Arbour JD. Metastasis to the optic nerve: clinicopathological correlations. Can J Ophthalmol. 1995;30(6):306–11.

    CAS  PubMed  Google Scholar 

  84. Garrity JA, Herman DC, Dinapoli RP, Waller RR, Campbell RJ. Isolated metastasis to optic nerve from medulloblastoma. Ophthalmology. 1989;96(2):207–10.

    Article  CAS  PubMed  Google Scholar 

  85. Fishman ML, Rosenthal S. Optic nerve metastasis from a mediastinal carcinoid tumour. Br J Ophthalmol. 1976;60(8):583–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Arnold AC, Hepler RS, Badr MA, Lufkin RB, Anzai Y, Konrad PN, et al. Metastasis of adenocarcinoma of the lung to optic nerve sheath meningioma. Arch Ophthalmol. 1995;113(3):346–51.

    Article  CAS  PubMed  Google Scholar 

  87. Shields JA, Demirci H, Mashayekhi A, Shields CL. Melanocytoma of optic disc in 115 cases: the 2004 Samuel Johnson memorial lecture, part 1. Ophthalmology. 2004;111(9):1739–46.

    PubMed  Google Scholar 

  88. Christmas NJ, Mead MD, Richardson EP, Albert DM. Secondary optic nerve tumors. Surv Ophthalmol. 1991;36(3):196–206.

    Article  CAS  PubMed  Google Scholar 

  89. Gill MK, Jampol LM. Variations in the presentation of primary intraocular lymphoma: case reports and a review. Surv Ophthalmol. 2001;45(6):463–71.

    Article  CAS  PubMed  Google Scholar 

  90. Yamamoto N, Kiyosawa M, Kawasaki T, Miki T, Fujino T, Tokoro T. Successfully treated optic nerve infiltration with adult T-cell lymphoma. J Neuroophthalmol. 1994;14(2):81–3.

    Article  CAS  PubMed  Google Scholar 

  91. Kincaid MC, Green WR. Ocular and orbital involvement in leukemia. Surv Ophthalmol. 1983;27(4):211–32.

    Article  CAS  PubMed  Google Scholar 

  92. Magramm I, Abramson DH, Ellsworth RM. Optic nerve involvement in retinoblastoma. Ophthalmology. 1989;96(2):217–22.

    Article  CAS  PubMed  Google Scholar 

  93. Finger PT, Harbour JW, Karcioglu ZA. Risk factors for metastasis in retinoblastoma. Surv Ophthalmol. 2002;47:1):1–16.

    Article  PubMed  Google Scholar 

  94. Chevez-Barrios P, Eagle RC Jr, Krailo M, Piao J, Albert DM, Gao Y, et al. Study of unilateral retinoblastoma with and without histopathologic high-risk features and the role of adjuvant chemotherapy: a Children’s Oncology Group Study. J Clin Oncol. 2019;37(31):2883–91.

    Article  PubMed  PubMed Central  Google Scholar 

  95. Al-Sarraj S, King A, Cleveland M, Pradat PF, Corse A, Rothstein JD, et al. Mitochondrial abnormalities and low grade inflammation are present in the skeletal muscle of a minority of patients with amyotrophic lateral sclerosis; an observational myopathology study. Acta Neuropathol Commun. 2014;2:165.

    Article  PubMed  PubMed Central  Google Scholar 

  96. Cykowski MD, Dickson DW, Powell SZ, Arumanayagam AS, Rivera AL, Appel SH. Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion. Acta Neuropathol. 2019;138(4):667–670.

    Google Scholar 

  97. Dubowitz V, Sewry C, Oldfors A. Muscle biopsy: a practical approach. Saunders, Philadelphia; 2013. 572 p.

    Google Scholar 

  98. Spencer RF, Porter JD. Biological organization of the extraocular muscles. Prog Brain Res. 2006;151:43–80.

    Article  PubMed  Google Scholar 

  99. Porter JD, Baker RS. Muscles of a different ‘color’: the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease. Neurology. 1996;46(1):30–7.

    Article  CAS  PubMed  Google Scholar 

  100. Porter JD, Baker RS, Ragusa RJ, Brueckner JK. Extraocular muscles: basic and clinical aspects of structure and function. Surv Ophthalmol. 1995;39(6):451–84.

    Article  CAS  PubMed  Google Scholar 

  101. Carry MR, Ringel SP. Structure and histochemistry of human extraocular muscle. Bull Soc Belge Ophtalmol. 1989;237:303–19.

    CAS  PubMed  Google Scholar 

  102. Lacey B, Chang W, Rootman J. Nonthyroid causes of extraocular muscle disease. Surv Ophthalmol. 1999;44(3):187–213.

    Article  CAS  PubMed  Google Scholar 

  103. Hoogenraad TU, Tan KE, Eelderink HJ, Veldman H, Jennekens FG. The inferior oblique as muscle of choice for biopsies of extraocular muscles. Br J Ophthalmol. 1979;63(10):680–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  104. Ringel SP, Wilson WB, Barden MT. Extraocular muscle biopsy in chronic progressive external ophthalmoplegia. Ann Neurol. 1979;6(4):326–39.

    Article  CAS  PubMed  Google Scholar 

  105. Martinez AJ, Hay S, McNeer KW. Extraocular muscles: light microscopy and ultrastructural features. Acta Neuropathol. 1976;34(3):237–53.

    Article  CAS  PubMed  Google Scholar 

  106. Martinez AJ, Biglan AW, Hiles DA. Structural features of extraocular muscles of children with strabismus. Arch Ophthalmol. 1980;98(3):533–9.

    Article  CAS  PubMed  Google Scholar 

  107. Wieczorek DF, Periasamy M, Butler-Browne GS, Whalen RG, Nadal-Ginard B. Co-expression of multiple myosin heavy chain genes, in addition to a tissue-specific one, in extraocular musculature. J Cell Biol. 1985;101(2):618–29.

    Article  CAS  PubMed  Google Scholar 

  108. Wasicky R, Ziya-Ghazvini F, Blumer R, Lukas JR, Mayr R. Muscle fiber types of human extraocular muscles: a histochemical and immunohistochemical study. Invest Ophthalmol Vis Sci. 2000;41(5):980–90.

    CAS  PubMed  Google Scholar 

  109. Ahmadi M, Liu JX, Brannstrom T, Andersen PM, Stal P, Pedrosa-Domellof F. Human extraocular muscles in ALS. Invest Ophthalmol Vis Sci. 2010;51(7):3494–501.

    Article  PubMed  Google Scholar 

  110. Cornblath WT, Elner V, Rolfe M. Extraocular muscle involvement in sarcoidosis. Ophthalmology. 1993;100(4):501–5.

    Article  CAS  PubMed  Google Scholar 

  111. Campos EC, Melato M, Manconi R, Antonutto G. Pathology of ocular tissues in amyloidosis. Ophthalmologica. 1980;181(1):31–40.

    Article  CAS  PubMed  Google Scholar 

  112. Eade EL, Hardy TG, McKelvie PA, McNab AA. Review of extraocular muscle biopsies and utility of biopsy in extraocular muscle enlargement. Br J Ophthalmol. 2018;102(11):1586–90.

    Article  PubMed  Google Scholar 

  113. Sharma A, Foster RS, Suh DW, Smith D, Kraft SP, Ali A. Idiopathic enlargement of the extraocular muscles in young patients: a case series. Am J Ophthalmol. 2016;161:206–13.

    Article  PubMed  Google Scholar 

  114. Fells P, Kousoulides L, Pappa A, Munro P, Lawson J. Extraocular muscle problems in thyroid eye disease. Eye (Lond). 1994;8(Pt 5):497–505.

    Article  Google Scholar 

  115. Scott IU, Siatkowski MR. Thyroid eye disease. Semin Ophthalmol. 1999;14(2):52–61.

    Article  CAS  PubMed  Google Scholar 

  116. Tallstedt L, Norberg R. Immunohistochemical staining of normal and Graves’ extraocular muscle. Invest Ophthalmol Vis Sci. 1988;29(2):175–84.

    CAS  PubMed  Google Scholar 

  117. Leung V, Wei M, Roberts TV. Metastasis to the extraocular muscles: a case report, literature review and pooled data analysis. Clin Exp Ophthalmol. 2018;46(6):687–94.

    Article  PubMed  Google Scholar 

  118. Love S, Budka H, Ironside JW, Perry A. Greenfield’s neuropathology. 9th ed. Boca Raton: CRC Press; 2015. 2 volumes (xxiii, 1961, 40 pages).

    Google Scholar 

  119. Goebel HH, Friedman AH. Extraocular muscle involvement in idiopathic primary amyloidosis. Am J Ophthalmol. 1971;71(5):1121–7.

    Article  CAS  PubMed  Google Scholar 

  120. Shah VS, Cavuoto KM, Capo H, Grace SF, Dubovy SR, Schatz NJ. Systemic amyloidosis and extraocular muscle deposition. J Neuroophthalmol. 2016;36(2):167–73.

    Article  PubMed  Google Scholar 

  121. Rosenbaum JT, Choi D, Wilson DJ, Grossniklaus HE, Harrington CA, Dailey RA, et al. Fibrosis, gene expression and orbital inflammatory disease. Br J Ophthalmol. 2015;99(10):1424–9.

    Article  PubMed  Google Scholar 

  122. Tome FM, Fardeau M. Ocular myopathies. Pathol Res Pract. 1985;180(1):19–27.

    Article  CAS  PubMed  Google Scholar 

  123. Bergen BJ, Carry MP, Wilson WB, Barden MT, Ringel SP. Centronuclear myopathy: extraocular- and limb-muscle findings in an adult. Muscle Nerve. 1980;3(2):165–71.

    Article  CAS  PubMed  Google Scholar 

  124. Khurana TS, Prendergast RA, Alameddine HS, Tome FM, Fardeau M, Arahata K, et al. Absence of extraocular muscle pathology in Duchenne’s muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing. J Exp Med. 1995;182(2):467–75.

    Article  CAS  PubMed  Google Scholar 

  125. Szigiato AA, Lee DH, Fraser JA. Selective extraocular muscle atrophy secondary to chronic oculomotor denervation. JAMA Ophthalmol. 2017;135(2):e164664.

    Article  PubMed  Google Scholar 

  126. Ravits J, Appel S, Baloh RH, Barohn R, Brooks BR, Elman L, et al. Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14(Suppl 1):5–18.

    Article  PubMed  PubMed Central  Google Scholar 

  127. Valdez G, Tapia JC, Lichtman JW, Fox MA, Sanes JR. Shared resistance to aging and ALS in neuromuscular junctions of specific muscles. PLoS One. 2012;7(4):e34640.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  128. Liu JX, Brannstrom T, Andersen PM, Pedrosa-Domellof F. Distinct changes in synaptic protein composition at neuromuscular junctions of extraocular muscles versus limb muscles of ALS donors. PLoS One. 2013;8(2):e57473.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  129. Liu JX, Brannstrom T, Andersen PM, Pedrosa-Domellof F. Different impact of ALS on laminin isoforms in human extraocular muscles versus limb muscles. Invest Ophthalmol Vis Sci. 2011;52(7):4842–52.

    Article  CAS  PubMed  Google Scholar 

  130. Alexianu ME, Ho BK, Mohamed AH, La Bella V, Smith RG, Appel SH. The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis. Ann Neurol. 1994;36(6):846–58.

    Article  CAS  PubMed  Google Scholar 

  131. Siklos L, Engelhardt JI, Reaume AG, Scott RW, Adalbert R, Obal I, et al. Altered calcium homeostasis in spinal motoneurons but not in oculomotor neurons of SOD-1 knockout mice. Acta Neuropathol. 2000;99(5):517–24.

    Article  CAS  PubMed  Google Scholar 

  132. McLoon LK, Harandi VM, Brannstrom T, Andersen PM, Liu JX. Wnt and extraocular muscle sparing in amyotrophic lateral sclerosis. Invest Ophthalmol Vis Sci. 2014;55(9):5482–96.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Patricia Chévez-Barrios .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Chévez-Barrios, P., Cykowski, M.D. (2022). Pathology of the Optic Nerve and Extraocular Muscle. In: Albert, D.M., Miller, J.W., Azar, D.T., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-030-42634-7_136

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-42634-7_136

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-42633-0

  • Online ISBN: 978-3-030-42634-7

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics