A case of isolated primary amyloidosis in the medial rectus muscle

Jeon, Chan Yang; Jin, Sun Young; Jang, Jae Woo; Kim, Ungsoo

doi:10.1007/s00417-011-1867-6

Cited by 7 publications

(4 citation statements)

References 5 publications

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“…A review of the literature revealed 21 cases of localized EOM amyloidosis and 9 cases of systemic amyloidosis with EOM infiltration (Table 1). 2–29 The most common clinical findings were ophthalmoplegia (63.3%), diplopia (56.7%), and proptosis (30.0%). Patients with systemic amyloidosis were more likely to have multiple muscles affected (55.6% multiple muscles cf 11.1% single muscle involvement).…”

Section: Resultsmentioning

confidence: 99%

Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review

Tong

Juniat

McKelvie

et al. 2021

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Purpose: Orbital amyloidosis of the extraocular muscles (EOMs) is a rare condition, and its clinicoradiological features are not well elucidated. This study describes the characteristic clinical signs, MRI features, and potential treatment options. Methods: Retrospective multicenter case series and literature review of EOM amyloidosis. Results: Five cases were identified for inclusion. Common clinical findings were diplopia, ophthalmoplegia, and proptosis. Systemic amyloidosis was more likely to present with multiple muscle involvement, but no particular pattern was observed with localized disease. On MRI, amyloid deposition was characterized as a heterogeneous intramuscular mass with T2 hypointensity and post contrast enhancement. Management is dependent on the extent of disease and functional impairment; options include surgical debulking and radiation therapy. Conclusion: EOM amyloidosis is uncommon. The combination of clinical and radiologic findings described in this study should lead to its clinical suspicion.

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Section: Resultsmentioning

confidence: 99%

Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review

Tong

Juniat

McKelvie

et al. 2021

Ophthalmic Plastic &Amp; Reconstructive Surgery

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“…Depending on the cause of amyloidosis, different types of amyloid (AA, AL) may be produced. Amyloidosis usually manifests systemically in all muscles but occasionally only a single muscle or a few muscles is/are affected . Amyloidosis is characterized by extracellular and perivascular deposition of AA or AL amyloid .…”

Section: Resultsmentioning

confidence: 99%

Secondary myopathy due to systemic diseases

et al. 2016

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“…Notably rare, orbital amyloidosis is documented in 0.3% of orbital disease cases (1,16). Instances of extraocular muscle amyloidosis, even rarer, have only been reported in 35 cases with and without systemic involvement (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Clinical differentiation between extraocular muscle amyloidosis and thyroid eye disease is intricate due to shared features (4,17).…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, involvement of the extraocular muscles is an exceedingly rare (1)(2)(3). To date, a mere 35 cases of localized amyloidosis in the extraocular muscles, with or without systemic involvement, have been reported in the literature (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). The diagnostic process can be intricate due to the resemblance of clinical features to thyroid eye disease (4).…”

Section: Introductionmentioning

confidence: 99%

A Case of Bilateral Amyloidosis Localized to Extraocular Muscles Mimicking Thyroid Eye Disease

Yoshida-Hata,

Mimura,

Aikawa

et al. 2023

Preprint

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Background:Amyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic amyloidosis has been well-documented, amyloid deposition in extraocular muscles is an exceptionally rare occurrence, with only 35 reported cases. This case report sheds light on the importance of considering amyloidosis in the differential diagnosis of patients presenting with proptosis and diplopia, which are often associated with thyroid eye disease. Case Presentation: A woman in her twenties sought medical attention due to a complaint of diplopia. Her ocular examination revealed almost normal findings except for exotropia and proptosis. Orbital magnetic resonance imaging displayed fusiform enlargement of nearly all eye muscles, a presentation typically observed in thyroid eye disease. However, despite corticosteroid therapy, her symptoms showed no improvement. Given the unusual lack of response to conventional treatment, and inhomogeneous enhancement of the muscle, an extraocular muscle biopsy was conducted. This biopsy yielded a unique finding—amyloid deposition within the muscle tissue. This discovery was particularly intriguing due to the extreme rarity of amyloidosis affecting extraocular muscles, with fewer than three dozen documented cases worldwide. Conclusion: This unique case underscores the critical need for a comprehensive approach to diagnosing patients with proptosis and diplopia. While these symptoms are commonly attributed to thyroid eye disease, it is essential to consider alternative diagnoses such as amyloidosis, especially when standard treatments fail to yield results. The discovery of amyloid deposition in the extraocular muscles, although exceedingly rare, emphasizes the significance of a thorough differential diagnosis. In conclusion, this case report highlights the importance of vigilance in clinical practice, encouraging ophthalmologists to explore less common diagnostic possibilities when faced with challenging cases. Further research and clinical investigation are warranted to better understand the mechanisms and potential treatments for amyloidosis affecting the extraocular muscles.

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A case of isolated primary amyloidosis in the medial rectus muscle

Cited by 7 publications

References 5 publications

Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review

Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review

Secondary myopathy due to systemic diseases

A Case of Bilateral Amyloidosis Localized to Extraocular Muscles Mimicking Thyroid Eye Disease

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