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Han, Kim, and Woo: Primary Localized Amyloidosis in Extraocular Muscles
Case Report

Journal of the Korean Ophthalmological Society 2019; 60(12): 1301-1306.

Published online: 17 December 2019

DOI: https://doi.org/10.3341/jkos.2019.60.12.1301

Primary Localized Amyloidosis in Extraocular Muscles

Sun Hyup Han, MD, Yoon-Duck Kim, MD, PhD, Kyung In Woo, MD, PhD

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Address reprint requests to Kyung In Woo, MD, PhD. Department of Ophthalmology, Samsung Medical Center, #81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. Tel: 82-2-3410-3562, Fax: 82-2-3410-0074, eyeminded@skku.edu

Received 9 August 2019       Revised 4 September 2019       Accepted 6 December 2019

©2019 The Korean Ophthalmological Society

The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

Primary localized amyloidosis is a disease characterized by the deposition of abnormal protein fibrils in a specific tissue without systemic involvement. We report a rare case of primary amyloidosis involving the extraocular muscle.

Case summary

A 51-year-old female visited our clinic due to diplopia. There was a 3 mm exophthalmos and restricted ocular motility in infraduction. Right hypertropia with 25 prism diopters was observed in the primary position. Orbital imaging scans showed fusiform enlargement of the inferior and medial rectus muscles with significant contrast enhancement in the right eye. A calcified nodule embedded in the medial rectus muscle was observed. Empirical steroid pulse therapy was conducted, but the patient showed little response. Subsequently, an incisional biopsy of inferior rectus muscle was performed. A histopathological examination showed amyloid deposits in hematoxylin and eosin staining, and a positive birefringence in Congo-red staining under polarized light, confirming amyloidosis. A systemic work up showed no evidence of systemic amyloidosis besides increased levels of rheumatoid factor.

Conclusions

When infiltrative myopathy of the extraocular muscle is suspected in a patient with exophthalmos and enlargement of extraocular muscles, primary amyloidosis should be considered in the differential diagnosis.

Keywords: Extraocular muscles, Infiltrative myopathy, Primary amyloidosis

Figures and Tables

Figure 1

Photograph of the patient's eyes. (A) There was no eyelid swelling or erythema in the right eye. (B) Three mm exophthalmoswas observed in the right eye.

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Figure 2

Nine-gaze photo of the patient. Twenty-five prism diopters of hypertropia in the primary position was observed in the righteye. A significant limitation of ocular motility in down gaze and a mild adduction limitation were observed in the right eye.

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Figure 3

Orbit magnetic resonance imaging (A–E) and computed tomography (F). The T1-weighted (A) and the T2-weighted (B)axial images showed iso-intense enlarged medial rectus muscle on the right eye. The contrast-enhanced T1-weighted axial viewshowed the well-enhanced medial rectus with a non-enhanced portion (yellow arrow) (C). The T2-weighted (D) and T1-weightedcontrast-enhanced (E) coronal images showed enlarged medial and inferior recti muscles with good contrast enhancement with anon-enhanced poition (yellow arrow). The pre-contrast axial view of the CT scan (F) showed a calcified nodule (yellow arrow) embeddedin the medial rectus muscle.

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Figure 4

Muscle biopsy findings. (A) A histopathologic examination showed amorphous, eosinophilic deposits in the extracellularmatrix (black arrow) (hematoxylin and eosin, ×200). (B) The amorphous extracellular material with Congo-red staining demonstratedapple-green birefringence under the polarized light (black arrow) (Congo-red, ×100).

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Notes

Conflicts of Interest The authors have no conflicts to disclose.

References

1. Aryasit O, Preechawai P, Kayasut K. Clinical presentation, treatment, and prognosis of periocular and orbital amyloidosis in a university-based referral center. Clin Ophthalmol. 2013; 7:801–805.
2. Tyradellis C, Peponis V, Kulwin DR. Surgical management of recurrent localized eyelid amyloidosis. Ophthalmic Plast Reconstr Surg. 2006; 22:308–309.
3. Picken MM. Amyloidosis-where are we now and where are we heading? Arch Pathol Lab Med. 2010; 134:545–551.
4. Gean-Marton AD, Kirsch CF, Vezina LG, Weber AL. Focal amyloidosis of the head and neck: evaluation with CT and MR imaging. Radiology. 1991; 181:521–525.
5. Chung EH, Oum BS, Lee SH, Hong SH. A case of corneal amyloidosis. J Korean Ophthalmol Soc. 1983; 24:383–386.
6. Kim DS, Kim CH, Kim YK. A case of corneal amyloidosis. J Korean Ophthalmol Soc. 1996; 37:554–558.
7. Park YH, Lee JY, Chung SK, Myong YW. Corneal amyloidosis developed after penetratioin keratoplasty. J Korean Ophthalmol Soc. 1998; 39:3093–3097.
8. Nam H, Cho KR. Primary systemic amyloidosis involved the conjunctiva. J Korean Ophthalmol Soc. 1991; 32:604–608.
9. Song BR, Kim YK, Yoo JH, Chu YC. Primary localized amyloidosis of bulbar conjunctiva and cornea. J Korean Ophthalmol Soc. 1993; 34:352–356.
10. Lee JH, Kim YD. Primary localized orbital amyloidosis. J Korean Ophthalmol Soc. 2001; 42:1793–1797.
11. Kim WT, Kim JS, Park HB. A case of vitreous amyloidosis. J Korean Ophthalmol Soc. 2003; 44:1948–1953.
12. Choi HJ, Choung HK, Khwarg SI. Primary localized amyloidosis of the lacrimal gland. J Korean Ophthalmol Soc. 2004; 45:1567–1572.
13. Kim YT, Kim JY, Kim YD. Primary localized amyloidosis of the lacrimal gland. J Korean Ophthalmol Soc. 2004; 45:1573–1577.
14. Kim JT, Kim EY, Lee HI, et al. A report of localized corneal amyloidosis secondary to the trichiasis. J Korean Ophthalmol Soc. 2006; 47:2035–2040.
15. Kim B, Song JH, Yang SW, Kim MS. A case of bilateral conjunctival amyloidosis treated with mass excision and cryotherapy. J Korean Ophthalmol Soc. 2011; 52:628–632.
16. Lyu IJ, Woo KI, Kim YD. Primary Orbital MALT lymphoma associated with localized amyloidosis. J Korean Ophthalmol Soc. 2013; 54:1109–1113.
17. Mora-Horna ER, Rojas-Padilla R, López VG, et al. Ocular adnexal and orbital amyloidosis: a case series and literature review. Int Ophthalmol. 2016; 36:281–298.
18. Demirci H, Shields CL, Eagle RC Jr, Shields JA. Conjunctival amyloidosis: report of six cases and review of the literature. Surv Ophthalmol. 2006; 51:419–433.
19. Mombaerts I, Rose GE, Verity DH. Diagnosis of enlarged extraocular muscles: when and how to biopsy. Curr Opin Ophthalmol. 2017; 28:514–521.
20. Vargas ME, Warren FA, Kupersmith MJ. Exotropia as a sign of myasthenia gravis in dysthyroid ophthalmopathy. Br J Ophthalmol. 1993; 77:822–823.
21. Chen CS, Lee AW, Miller NR, Lee AG. Double vision in a patient with thyroid disease: what's the big deal? Surv Ophthalmol. 2007; 52:434–439.
22. Shafi F, Mathewson P, Mehta P, Ahluwalia HS. The enlarged extraocular muscle: to relax, reflect or refer? Eye (Lond). 2017; 31:537–544.
23. Trokel SL, Hilal SK. Recognition and differential diagnosis of enlarged extraocular muscles in computed tomography. Am J Ophthalmol. 1979; 87:503–512.
24. Patrinely JR, Osborn AG, Anderson RL, Whiting AS. Computed tomographic features of nonthyroid extraocular muscle enlargement. Ophthalmology. 1989; 96:1038–1047.
25. Lacey B, Chang W, Rootman J. Nonthyroid causes of extraocular muscle disease. Surv Ophthalmol. 1999; 44:187–213.
26. Holmström GE, Nyman KG. Primary orbital amyloidosis localised to an extraocular muscle. Br J Ophthalmol. 1987; 71:32–33.
27. Erie JC, Garrity JA, Norman ME. Orbital amyloidosis involving the extraocular muscles. Arch Ophthalmol. 1989; 107:1428–1429.
28. Monteiro ML, Gonçalves AC, Bezerra AM. Isolated primary amyloidosis of the inferior rectus muscle mimicking Graves' orbitopathy. Einstein (Sao Paulo). 2016; 14:553–556.
29. Shah VS, Cavuoto KM, Capo H, et al. Systemic amyloidosis and extraocular muscle deposition. J Neuroophthalmol. 2016; 36:167–173.
30. Okamoto K, Ito J, Emura I, et al. Focal orbital amyloidosis presenting as rectus muscle enlargement: CT and MR findings. AJNR Am J Neuroradiol. 1998; 19:1799–1801.
31. Stack RR, Vote BJ, Evans JL, Elder MJ. Bilateral ptosis caused by localized superficial eyelid amyloidosis. Ophthalmic Plast Reconstr Surg. 2003; 19:239–240.
32. Kourelis TV, Kyle RA, Dingli D, et al. Presentation and outcomes of localized immunoglobulin light chain amyloidosis: the Mayo clinic experience. Mayo Clin Proc. 2017; 92:908–917.
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