Orbital Amyloidosis Research Articles

Primary local orbital amyloidosis: biochemical identification of the immunoglobulin light chain κIII subtype in a small formalin fixed, paraffin wax embedded tissue sample

Background: Amyloidosis refers to a heterogeneous group of disorders associated with the deposition of chemically distinct amyloid fibril proteins. Precise determination of chemical amyloid type has diagnostic, therapeutic, and prognostic...

Kappa III immunoglobulin light chain origin of localized orbital amyloidosis

Isolated orbital amyloidosis is a rare condition in which intra-muscular deposits result in proptosis and restriction of eye movement. Previous reports have suggested an immunoglobulin origin of the amyloid fibrils, but this has not been proven biochemically. A case is presented in which initial unilateral orbital amyloidosis progressed to bilateral disease. Biochemical analysis of resected ocular muscle determined that the amyloid fibrils were derived from a kappa III immunoglobulin light chain. Questions of pathogenesis and tissue tropism are considered.

Secondary Glaucoma in Progressive Primary Orbital Amyloidosis

Orbital involvement in primary amyloidosis is uncommon. A 71-year old man with primary amyloidosis presented with painless proptosis, a palpable orbital mass, and restricted extraocular motility. Computed tomography, magnetic resonance imaging, and histopathologic analysis documented the mass. The patient had no clinical evidence of intraocular amyloid deposits, family history of amyloidosis, or systemic involvement. However, 7 years later intracranial involvement and secondary glaucoma became apparent.

Primary Localized Orbital Amyloidosis of an Extraocular Muscle: CT and MRI Findings

Primary Localized Orbital Amyloidosis of an Extraocular Muscle: CT and MRI Findings

Primary Localized Orbital Amyloidosis of an Extraocular Muscle: CT and MRI Findings

Primary Localized Orbital Amyloidosis of an Extraocular Muscle: CT and MRI Findings

Ocular amyloidosis and secondary glaucoma

ObjectiveTo report the clinical and histopathologic findings in two cases of secondary glaucoma associated with amyloidosis. DesignTwo case reports. MethodsRetrospective review of clinical findings, course, and treatment of the two patients. The histopathologic findings from available biopsy material were also reviewed. Main outcome measuresIntraocular pressure (IOP), visual field changes, and surgical outcome. ResultsThe first case describes a 76-year-old woman with orbital amyloidosis who developed gradual unilateral elevation of IOP that was poorly responsive to medical therapy and underwent filtration surgery. Episcleral venous pressure was elevated on the affected side, and histopathologic analysis of the conjunctival tissue confirmed perivascular amyloid deposits, further suggesting raised episcleral venous pressure to be a possible mechanism of glaucoma. The second case describes a 47-year-old white woman with familial amyloid neuropathy with a transthyretin cys-114 mutation. The association of glaucoma with this mutation has not been described previously. Persisting elevation of IOP in one eye was initially responsive to topical antiglaucoma medications but eventually required filtration surgery. Amyloid particles were found in the aqueous and on the lens surface. Histopathologic analysis of the aqueous and sclerectomy specimens demonstrated amyloid, suggesting outflow obstruction as a possible mechanism of glaucoma. Conjunctival buttonholing complicated filtration surgery in both cases, and the leaks eventually resolved with good control of IOP. ConclusionsAmyloid associated with glaucoma may involve different pathophysiologic mechanisms. The elevated IOP may not respond well to medical therapy. Cautious surgical manipulation of the conjunctiva is warranted in these cases.

Monoclonal origin of localised orbital amyloidosis detected by molecular analysis.

Primary localised orbital amyloidosis is a rare disease. The purpose of this study was to describe two cases of primary orbital amyloidosis and emphasise the value of molecular analysis of immunoglobulin gene rearrangement in identifying a monoclonal population of cells responsible for the amyloid production. Charts and biopsy specimens of each case were reviewed. Conventional light microscopy, immunohistochemistry, and polymerase chain reaction (PCR) analysis for immunoglobulin gene rearrangement were performed in both cases. An unusual presentation of localised primary amyloidosis with bilateral and extensive enlargement of multiple extraocular muscles was seen in case 1. The presence of amyloid deposits was confirmed by biopsy in both cases. Evidence of a monoclonal population of plasma cells was shown by immunohistochemical analysis in case 2 only. The monoclonal origin of the cells responsible for the amyloid deposition was determined by PCR analysis demonstrating immunoglobulin heavy chain gene rearrangement in both cases. A monoclonal population of plasma cells responsible for the amyloid deposition was present in these two cases. PCR analysis is extremely helpful in determining monoclonality, a finding that may have important therapeutic and prognostic implications.

Clinical and Computed Tomographic Characteristics of Amyloid Tumor of the Lacrimal Gland

Lacrimal gland masses, whose soft-tissue contour analysis, on computed tomographic (CT) scanning, shows molding to surrounding orbital structures, include inflammatory and lymphoproliferative lesions. The authors present a patient with orbital amyloidosis isolated to the lacrimal gland who also demonstrates this specific CT presentation. In addition, the literature on this rare condition is reviewed, and characterization of the typical presentation is provided. A retrospective review of the four previously reported patients and the authors' additional patient with amyloid tumor of the lacrimal gland was performed. A summary of the clinical characteristics of the disorder was formulated. Special attention was given to to the unique CT findings of the authors' patient. Five patients with amyloid tumor of the lacrimal gland have been described. All patients have been women, with average age of 53 years, and who had the primary, localized variant of the disease. Neither visual impairment nor evidence of optic nerve dysfunction has developed in any of the patients. In the authors' patient, the CT soft-tissue contour analysis of the lacrimal gland mass demonstrated molding to adjacent orbital tissues. Amyloidosis of the lacrimal gland presents as a primary, localized disease process. It typically affects middle-aged women without visual morbidity. The early CT findings may mimic those seen in inflammatory or lymphoproliferative disorders of the lacrimal gland.

Primary Localized Amyloidosis of the Lacrimal Glands

Primary localized amyloidosis causing bilateral lacrimal enlargement is rare. The pathogenesis of amyloid deposition within the orbit and other body tissues has not been fully elucidated. The authors report the case of a 72-year-old woman who presented with bilateral lacrimal gland enlargement secondary to amyloid infiltration. The chemical nature of the deposit was characterized using light microscopy, immunohistochemistry, and immunoelectron microscopy. The primary (immunocytic) nature of the amyloid was confirmed by immunohistochemistry demonstrating the presence of monoclonal lambda light chains in the amyloid deposits and in the plasma cells. Using immunoelectron microscopy, amyloid deposits were seen containing lambda light chains in macrophages. It has been postulated that the macrophage has a role in amyloid deposition. The authors believe this to be the first published report of immunoelectron microscopy use in orbital amyloidosis, and that this technique has helped further their understanding of the nature and pathogenesis of this condition.

Primary orbital amyloidosis with secondary glaucoma: A case report

Primary orbital amyloidosis is rare. Secondary glaucoma in primary orbital amyloidosis has not been reported. The authors report the first case of primary orbital amyloidosis with secondary angle closure glaucoma.

Isolated sixth-nerve palsies in younger adults.

Acquired sixth-nerve palsies are relatively rare in younger adults. We reexamined 49 patients, aged from 15 to 50 years, with isolated sixth-nerve palsies who were seen between 1972 and 1982 at the Wills Eye Hospital in Philadelphia. In this group, the following etiologies were encountered: vasculopathy (14 patients [29%]), tumors (eight patients [16%]), multiple sclerosis (six patients [12%]), presumed inflammation (four patients [8%]), trauma (three patients [6%]), postlumbar puncture (two patients [4%]), and orbital amyloidosis (one patient [2%]). Eleven patients (22%) had no determined cause of their sixth-nerve palsy. The implications for the clinical management of isolated sixth-nerve palsies in younger adults are discussed.