A 19-year-old healthy Indian female noted blurred vision, redness, and pain in the right eye (RE) for 6 months. On examination, visual acuity (VA) was counting fingers in RE and 20/20 in left eye (LE). The RE demonstrated shallow anterior chamber with 360 degrees peripheral anterior synechiae. Approximately 400 translucent spherules of 50-200 micron diameter were embedded in the iris stroma and anterior chamber angle [Fig. and ]. Other findings included posterior subcapsular cataract, elevated intraocular pressure (IOP) of 30 mm Hg, and advanced glaucomatous damage with C:D ratio of 0.9:1. The LE was normal. Iris biopsy demonstrated acellular, amorphous hyaline deposits within the iris stroma, weakly staining with Congo red, suggestive of amyloid []. Transmission electron microscopy (TEM) confirmed amyloid fibrils []. Results of analysis with in situ hybridization for subtyping were inconclusive due to the presence of heavily melanized melanocytes. Systemic evaluation including complete blood count, liver and kidney function tests, serum and urine protein electrophoresis, serum and urine light chain protein, bone marrow biopsy, and PET CT scan were normal. Over the following 3 years, the patient developed cataract, uncontrolled glaucoma, and corneal decompensation, requiring cataract surgery, glaucoma valve surgery, and penetrating keratoplasty, with final VA at 20/30 in affected eye [Fig. and ].
A 64-year-old man presented with an incidental right lung mass on chest X-ray. Mediastinoscopy and lymph node biopsy confirmed amyloid, remaining asymptomatic until four years later, developing exertional dyspnoea matched by significant increase of the mass by chest radiography. Basic laboratory evaluation and immunohistochemistry was unremarkable. Immunoelectrophoresis revealed a faint immunoglobulin G (IgG) kappa band. No mass spectrometry was performed. Colonic biopsy, bone marrow aspirate, immunophenotyping and trephine were normal. 123I Serum amyloid P-component (SAP) scintigraphy showed abnormal uptake within the mass only. Computerised tomography (CT) revealed mediastinal and hilar lymphadenopathy, with a 9.5 × 6.5 × 10 cm right mediastinal mass containing fat and calcification with a radiological differential diagnosis of a teratoma. F-18 fluorodeoxyglucose (FDG)-Positron Emission Tomography (PET)/CT demonstrated intermediate to high-grade uptake within the soft tissue and low-grade uptake in the fatty component (). Cardiac magnetic resonance imaging excluded cardiac involvement. Repeat core biopsy demonstrated fibrovascular tissue with focal amyloid deposition. The patient proceeded to surgical mass de-bulking for diagnosis and symptom relief and histology confirmed evidence of amyloid. The patient’s postoperative course was uneventful; no evidence of recurrence three months following surgery and marked symptomic improvement, with disappearance of the IGgk paraprotein following resection, currently planned for local consolidation radiotherapy.