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 71-year-old woman was investigated for a one-year history of deteriorating dyspnoea on a background of well-controlled asthma. Other co-morbidities included cutaneous systemic lupus erythematosus, rheumatoid arthritis and Sjogren’s syndrome. High-resolution computerised tomography (HRCT) showed multiple cysts, solid nodules and aggregate masses – the largest (2 × 1.5 cm) in the peripheral left lower lobe with fine-needle aspiration suggestive of amyloid. Serum biochemistry showed a polyclonal elevation of IgG, no detectable monoclonal band and normal serum-free light chains. Immunohistochemistry showed no specific staining for kappa or lambda antibodies. Mass spectrometry was not performed. Echocardiography excluded cardiac involvement and no visceral uptake by 123I SAP scintigraphy. Pulmonary function tests demonstrated a restrictive pattern, and a further HRCT raised suspicion of lymphocytic interstitial pneumonitis. FDG-PET/CT demonstrated similar low-grade uptake in all lung nodules (). A mini-thoracotomy was performed to obtain tissue from the largest nodule showing evidence of amyloid but too few infiltrating cells were present to confirm clonality.\nA low-grade lymphoplasmocytic lymphoma (LPL) was presumed to be driving the pulmonary amyloid, based on the assumption of low-grade B-cell clonal disorders that can occur with Sjogren’s syndrome. A trial of R-CVP (Rituximab – Cyclophoshamide, Vincristine, Prednisolone) chemotherapy was commenced for four months resulting in no progression of symptoms and stable lesions.