J Korean Ophthalmol Soc.  2019 Dec;60(12):1301-1306. 10.3341/jkos.2019.60.12.1301.

Primary Localized Amyloidosis in Extraocular Muscles

Affiliations
  • 1Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. eyeminded@skku.edu

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.

Keyword

Extraocular muscles; Infiltrative myopathy; Primary amyloidosis

MeSH Terms

Amyloidosis*
Biopsy
Birefringence
Diagnosis, Differential
Diplopia
Eosine Yellowish-(YS)
Exophthalmos
Female
Hematoxylin
Humans
Middle Aged
Muscles*
Muscular Diseases
Orbit
Plaque, Amyloid
Rheumatoid Factor
Strabismus
Eosine Yellowish-(YS)
Hematoxylin
Rheumatoid Factor

Figure

  • 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.

  • 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.

  • 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.

  • 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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