Anterior orbit and adnexal amyloidosis

Hussain, Hailah Al; Edward, Deepak P.

doi:10.4103/0974-9233.114789

Cited by 11 publications

(10 citation statements)

References 26 publications

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“…Amyloidosis is characterised by misfolded proteins which are deposited within extracellular space in various tissues and organs, including the orbit [ 1 – 3 ]. It can be both systemic and localised [ 1 , 7 ]. Amyloidosis of the conjunctiva and eyelid is a rare entity that is typically benign [ 5 , 6 , 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…When confined to the conjunctiva the amyloid tends to be localised, whereas cutaneous lesions are characteristically associated with systemic disease [ 1 , 7 , 8 ]. Interestingly, our case showed evidence of both lid and conjunctival amyloid but no systemic associations.…”

Section: Discussionmentioning

confidence: 99%

“…Patients may present with general eye discomfort, stickiness of the eye, or lid deformity [ 1 , 6 , 7 , 10 ]. Rarely, it can present with something as innocuous as subconjunctival haemorrhage, due to friability of amyloid deposits [ 3 , 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Biopsy is indicated to rule out malignancy [ 1 , 7 ]. After Congo red staining, amyloid typically shows apple-green birefringence when examined with light microscopy [ 1 , 4 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case of Amyloidosis of the Eyelid and Conjunctiva

Ali

Fernando

2016

Case Reports in Ophthalmological Medicine

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Amyloidosis of the eyelid is uncommon and is typically associated with systemic associations. In contrast, amyloidosis of the conjunctiva is often localised with no other associations. We present a rare case of a 92-year-old gentleman with both cutaneous lid lesions and conjunctival amyloid with no systemic involvement. Biopsy demonstrated the hallmarks of amyloid and treatment has remained conservative. He remains at the department to be monitored for secondary glaucoma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Biopsy is indicated to rule out malignancy [ 1 , 7 ]. After Congo red staining, amyloid typically shows apple-green birefringence when examined with light microscopy [ 1 , 4 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case of Amyloidosis of the Eyelid and Conjunctiva

Ali

Fernando

2016

Case Reports in Ophthalmological Medicine

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“…In one study, the nature of amyloid in two cases of ocular amyloidosis was identified using a recently described diagnostic technique laser capture microdissection (LCM) followed by liquid chromatography tandem mass spectrometry (LC-MS/MS). They identified a polyclonal IgG type amyloid in one case and AL kappa type amyloid in the other [28]. To our knowledge nothing is known of other proteins associated to the immunoglobulin light chain deposits in these eye-related tissues.…”

Section: Introductionmentioning

confidence: 99%

Insight into the Protein Composition of Immunoglobulin Light Chain Deposits of Eyelid, Orbital and Conjunctival Amyloidosis

Nielsen

Poulsen

Enghild³

2014

J Proteomics Bioinform

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Amyloidosis is a disease characterized by the formation of extracellular amyloid deposits. Immunoglobulin light-chain amyloidosis can appear as a local disorder presenting with mild symptoms or as a life threatening systemic disease. The systemic form of immunoglobulin light-chain amyloidosis is the most common type of amyloidosis in western countries although it is a rare disease. Identification of the proteins forming amyloid fibrils is essential for the diagnosis of the disease and knowledge about the overall protein composition of the deposits may lead to a larger understanding of the deposition events thereby facilitating a more detailed picture of the molecular pathology. In this pilot study, we investigated the protein composition of amyloid deposits isolated from human specimens of the eyelid, conjunctiva, and orbit. Deposits and internal control tissue (patient tissue without apparent deposits) were procured by laser capture microdissection. Proteins in the captured amyloid and control samples were quantified by liquid chromatography tandem mass spectrometry using the label-free exponential modified Protein Abundance Index (emPAI) method. Immunoglobulin light chain kappa or lambda was found to be the most predominant protein in the amyloid deposits from the eyelid, conjunctiva, and orbit. Five proteins, apolipoprotein A-I, carboxypeptidase B2 (TAFI), complement component C9, fibulin-1 and plasminogen were found solely across all amyloid but not in the control tissue. In addition, the protein profiles identified apolipoprotein E and serum amyloid P component to be associated with the immunoglobulin light chain deposits across all three tissues analyzed. The method used in this study provided high sensitivity and specificity for the type of amyloid and may provide additional information on the pathology of the amyloid deposits in the ocular tissues studied.

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Ocular adnexal and orbital amyloidosis: a case series and literature review

et al. 2015

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The purpose of the study was to describe the main clinical and epidemiologic characteristics, treatment options, and outcome in a large series of patients with periocular and orbital amyloidosis. This is a retrospective, descriptive, observational study of a case series of 14 patients with periocular and orbital amyloidosis and is a review of previously published cases with this diagnosis between September 2004 and January 2015. In this study, we analyzed our 14 patients in conjunction with 69 well-documented cases of orbital and/or periocular amyloidosis previously reported, with a total of 83. Of these, 54 were female (65.1 %), 28 male (33.7 %), and one with unspecified gender. The mean age at diagnosis was 54.9 years (range, 18-87). The localization of the amyloidosis was classified as superficial, deep and combined, with involvement of 53 (63.9 %), 26 (31.3 %), and four cases (4.8 %) in each group, respectively. The main findings in superficial amyloidosis were mass or tissue infiltration (84.9 %) and ptosis (30.2 %) and, in the cases with deep involvement, mass (65.4 %), proptosis (57.7 %), limited ocular movements (34.6 %), ocular displacement (30.8 %), and ptosis (26.9 %). The cases with combined involvement presented with signs and symptoms of the two groups. Regarding the outcome, 43 patients were reported stable after the diagnosis and 21 had recurrence or required new surgical procedures. Periocular and orbital amyloidosis is a rare disease that can present with a variety of symptoms and signs depending on the localization and extension of involvement. Its prompt recognition is important in order to investigate systemic disease, which will affect the prognosis of each case.

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Anterior orbit and adnexal amyloidosis

Cited by 11 publications

References 26 publications

A Rare Case of Amyloidosis of the Eyelid and Conjunctiva

A Rare Case of Amyloidosis of the Eyelid and Conjunctiva

Insight into the Protein Composition of Immunoglobulin Light Chain Deposits of Eyelid, Orbital and Conjunctival Amyloidosis

Ocular adnexal and orbital amyloidosis: a case series and literature review

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