Conjunctival amyloidosis -- clinical and histopathologic features.

PURPOSE: Conjunctival amyloidosis is a rare disorder. It is often clinically not suspected or diagnosed. This study intended to demonstrate the clinical and histopathologic features of this infrequent disease, including an immunohistochemical search for amyloidotic proteins. METHODS: Retrospective case series of the clinical and histopathologic characteristics of six patients with conjunctival amyloidosis. Immunohistochemical analysis with respect to possible amyloidotic components of the conjunctival deposits was performed. RESULTS: The diagnosis of amyloidosis was not suspected in all six cases presenting with an amelanotic conjunctival lesion. In three patients a conjunctival tumor of unknown origin, in one case each a papillomatous alteration of the conjunctiva, a conjunctival granulomatous inflammation, and a lymphoma were assumed respectively. The diagnosis of amyloidosis was made by histopathology. Immunohistochemical examination found lambda and kappa light chains as well as prealbumin within the amyloid deposits in one of the six specimens. CONCLUSIONS: The diagnosis of amyloidosis has to be kept in mind in cases with an unclear conjunctival mass or inflammatory process. Only a tissue biopsy is able to prove the diagnosis. A possible underlying systemic disease has to be ruled out.

Characterisation of novel uveal melanoma cell lines under serum-free conditions.

BACKGROUND: The establishment of long-term uveal melanoma (UM) cell lines is difficult. However, studying living cells and their behaviour in the presence of other cells and the extracellular matrix is important in terms of understanding tumour biology and malignant behaviour. We have established three UM cell lines and report a first characterisation of these cell lines. METHODS: Three established UM cell lines (UMT2, UMT26 and UMT33) were analysed according to their morphologic characteristics, melanocytic differentiation, adhesion on different extracellular matrices and proliferative activity. Copy number changes of chromosomes 1, 3, 6 and 8 were studied by multiplex ligation-dependent probe amplification (MLPA). Oncogenic mutations in UM involving exons 4 and 5 of GNAQ and GNA11, respectively, were analysed by sequencing. RESULTS: All cell lines grew in suspension. UMT2 cells were homogeneous, UMT26 and UMT33 cells heterogeneous with regard to cell size and pigmentation. All UM cell lines revealed a melanocytic differentiation. UMT2 and 33 adhered on various extracellular matrices, while UMT26 only adhered to basal membrane extract (BME). This difference corresponded to the different expression of various integrins. Ki67 was expressed by 89% of UMT2 and 95% of UMT33 cells, which thus were in a proliferative stage, while only 2% of UMT26 cells revealed immunostaining for this proliferation marker. The doubling time of UMT2 was 3 days, 12 days for UMT33, and circa 3-4 months for UMT26. MLPA revealed disomy 3 in UMT2 and monosomy 3 in UMT33. The same point mutation was found in UMT2, 26 and 33, in exon 5 of GNA11 at codon 209 (p.Q209L). CONCLUSIONS: The establishment of UM cell lines under serum-free conditions is possible. Characterisation of UMT2, 26, and 33 revealed obvious differences in cytomorphology, melanocytic differentiation, adhesion on extracellular matrices, and proliferative activity. UMT2, 26 and 33 showed the same oncogenic mutation in exon 5 of GNA11.

Full macular translocation following photodynamic therapy in neovascular age-related macular degeneration.

PURPOSE: To report the long-term functional and anatomical outcome of full macular translocation (FMT) in eyes with neovascular age-related macular degeneration (AMD) following photodynamic therapy (PDT). METHODS: Twelve eyes of 12 consecutive patients with neovascular AMD who were PDT-nonresponders and underwent FMT were analysed. Best-corrected visual acuity (BCVA) measurement, fundus photography, and fluorescein angiography at baseline and at follow-up examinations in 3 months intervals were performed. Primary end point was change of BCVA from baseline to last visit. RESULTS: Totally 12 eyes of 12 patients were analysed. Mean time interval between the last PDT and FMT was 3.7 months (range 1-10 months). Mean follow-up after FMT was 25.6 months. BCVA ranged at baseline from 20/1000 to 20/80 (mean 20/230). At the last visit, mean BCVA was by 20/185. BCVA improved in 50% (6/12) of eyes by more than 1 line. Twenty five per cent (3/12) of eyes had final BCVA within +/-1 line from baseline. In 25% (3/12) of eyes the BCVA decreased by more than 1 line. One eye had recurrent CNV. In four eyes a cystoid macular oedema developed. No retinal detachment or disturbing diplopia was noted. CONCLUSIONS: In the present study, FMT in PDT-nonresponders stabilised or improved visual acuity in the majority of the eyes in a mean follow-up period of nearly 2 years. FMT can be considered as a therapeutical option in eyes who are nonresponders to the PDT in neovascular AMD.

Keratoepithelin in secondary corneal amyloidosis.

BACKGROUND: Amyloid is found in several corneal dystrophies, including distinct lattice corneal dystrophies (LCD) and Avellino corneal dystrophy. Recently, point mutations in the transforming growth factor-beta-induced gene (TGFBI) encoding for keratoepithelin (KE) have been demonstrated in these corneal disease entities. We intended to investigate if KE was also a component of the rarely seen secondary corneal amyloid deposits. METHODS: Immunohistochemical staining with a polyclonal antibody against KE was performed on formalin-fixed paraffin-embedded tissue of five corneal buttons with secondary amyloid obtained after keratoplasty. Secondary amyloidosis was due to Fuchs endothelial dystrophy (FED) with bullous keratopathy and/or recurrent erosions in all cases. The diagnosis had been established by light microscopy using Congo red staining. Two cases of LCD type I served as positive controls and three corneas with FED and one with keratoconus without amyloid served as negative controls. RESULTS: All corneas with secondary amyloidosis as well as LCD type I revealed positive staining in the respective amyloid deposits. KE was localized in the subepithelial pannus and in the anterior stroma in the corneas with secondary amyloidosis. In the specimens with LCD type I it was distributed in the amyloid deposits located in the anterior and mid-stroma. Staining for KE showed a granular appearance in all cases. The intensity of staining was variable among the specimens. CONCLUSIONS: KE is found not only in primary amyloid deposits of hereditary corneal dystrophies, but also in secondary amyloidosis of the cornea of diverse ethiologies.