Ocular Adnexal Amyloidosis: A Mass Spectrometric Analysis

Blandford, Alexander D.; Yordi, Sari; Kapoor, Saloni; Yeaney, Gabrielle; Cotta, Claudiu V.; Valent, Jason; Perry, Julian D.; Singh, Arun D.

doi:10.1016/j.ajo.2018.05.032

Cited by 17 publications

(7 citation statements)

References 19 publications

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“…However, this patient tested negative for amyloid A and positive for globulin light chain, and thus, a diagnosis of localized AL amyloidosis of the lacrimal gland was made. Moreover, according to earlier reports, most cases of ocular appendage amyloidosis are characterized by the deposition of AL type amyloid protein [2,17,18]. However, additional immunostaining confirmed the presence of transthyretin.…”

Section: Discussionmentioning

confidence: 67%

“…Amyloidosis can be classified into systemic amyloidosis, in which amyloid is deposited in the tissues and organs, and localized amyloidosis, in which amyloid deposition is localized [1]. Periocular amyloidosis is reported to be localized to the eyelids, cornea, and conjunctiva [2]. There have been several reports of amyloidosis of the lacrimal gland in the literature, although it is a relatively rare condition [3][4][5][6][7][8].…”

Section: Introductionmentioning

confidence: 99%

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Lacrimal Gland Amyloidosis in an Elderly Patient

Nagai

Yunoki

Hayashi

2020

Case Rep Ophthalmol

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Localized amyloidosis of the lacrimal gland is a rare disease. We report a case of transthyretinpositive localized amyloidosis of the lacrimal gland in a 74-year-old man with left lacrimal gland swelling. Biopsy of the left lacrimal gland showed extensive deposition of nonstructural eosinophilic material in the secretory gland and ducts, which stained positive with direct fast scarlet. Immunostaining was negative for amyloid A and positive for both globulin light chain (kappa, lambda) and transthyretin. It is necessary to consider the possibility of senile systemic amyloidosis, even if localized amyloidosis of the lacrimal gland is suspected.

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Section: Discussionmentioning

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Lacrimal Gland Amyloidosis in an Elderly Patient

Nagai

Yunoki

Hayashi

2020

Case Rep Ophthalmol

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“…On an extensive review of the literature, we found isolated primary conjunctival amyloidosis to be reported in 64 cases in the last 20 years (2000–2020) [ Table 1 ]. [ 1 3 5 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 ] Cases of isolated primary amyloidosis involving only conjunctiva were included. Cases with extension into other orbital structures, for example, eyelid components such as tarsal plates, levator palpebrae muscle, cornea, or periorbital deep tissues, with confirmed systemic involvement or where systemic workup was not done to rule out systemic disease were excluded.…”

Section: Discussionmentioning

confidence: 99%

Conjunctival amyloidosis: A report of two cases with review of literature – 2000–2020

Diwaker

Garg

Gaur

et al. 2022

J Microsc Ultrastruct

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Amyloidosis is a complex multisystem disorder characterized by deposition of an aberrant protein in tissues and results in disruption of the normal organ function. Localized amyloidosis is a rare disorder. It commonly affects the head-and-neck region, and only 4% of these lesions are encountered in the orbital region. Hence, conjunctival amyloidosis is a very rare entity. It is thought to be a manifestation of local immunologic disorders. Amyloidosis of conjunctiva is more often localized with no other systemic features. Here, we present two cases of unilateral conjunctival amyloidosis, one with extensive calcification. Conjunctival amyloidosis must be considered in the differential diagnosis of conjunctival neoplasms. Histopathological examination and apple-green birefringence on polarized microscopy with Congo red stain remain the gold standard for diagnosing this entity.

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“…Referral to hematology/oncology for hematologic and urine testing is necessary to rule out neoplasm and systemic organ involvement [2]. On histopathological analysis, additional tests such as immunohistochemical (IHC) staining, mass spectrometry or ISH can be performed to assess presence of amyloid protein and for kappa or lambda restriction of plasma cells to characterize the nature of the amyloid [14]. While all methods of analysis can be performed for kappa and lambda chain expression, ISH can detect lower levels of mRNA than can currently be visualized with IHC making it a highly accurate method to use for light chain expression [14,15].…”

Section: Discussionmentioning

confidence: 99%

Primary Isolated Lacrimal Gland Amyloidosis: A Case Report and Review of the Literature

Evans

Thompson

Dryden

et al. 2019

Cureus

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We report a case of a 42-year-old woman who presented with a one-year history of a painless right orbital mass and right upper lid ptosis. Magnetic resonance imaging (MRI) revealed a superotemporal right orbital mass involving the lacrimal gland, and subsequent tissue biopsy and histopathologic evaluation was consistent with amyloidosis. An otherwise negative workup by hematology/oncology confirmed a diagnosis of primary isolated lacrimal gland amyloidosis. To the best of our knowledge, this is the first documented case of isolated lacrimal gland amyloidosis without immunoglobulin (Ig) light chain restriction on in situ hybridization testing with a report of MRI findings. In addition, this is the second reported case of the disease without Ig light chain restriction on immunohistochemistry staining, and it is the third case with reported MRI results.

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Ocular Adnexal Amyloidosis: A Mass Spectrometric Analysis

Cited by 17 publications

References 19 publications

Lacrimal Gland Amyloidosis in an Elderly Patient

Lacrimal Gland Amyloidosis in an Elderly Patient

Conjunctival amyloidosis: A report of two cases with review of literature – 2000–2020

Primary Isolated Lacrimal Gland Amyloidosis: A Case Report and Review of the Literature

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