Browsing by Author "Risovic, Dusica (16234539700)"

Background: Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bowman layer as a rare phenotypic appearance of ACD and a high intra-familial variability of phenotype in patients with ACD. Case presentation. A 56 year-old Caucasian woman with recurrent corneal erosions was diagnosed with corneal dystrophy of the Bowman layer after a clinical examination. Optical coherence tomography of the anterior segment (AS-OCT) mainly demonstrated deposits in the Bowman layer and a few deposits in the superficial stroma. Her son, a 36 year-old man, has a typical clinical presentation of ACD with all the deposits arranged in stromal layers. In his case, the opacities resemble snowflakes between the granular deposits, and AS-OCT shows large, snowflake-like deposits in the superficial and deep stroma without accumulation in the Bowman layer. Genetic screening in both cases shows the heterozygous R124H mutation in the TGFBI gene. Conclusion: The clinical finding of the granular-lattice corneal dystrophy in which deposits are located in the Bowman layer may be an atypical presentation of ACD. This paper demonstrates a high degree of variability in the quantity and form of deposits between ACD heterozygotes. This is the first description of Avellino corneal dystrophy in the Balkans and in Serbia. © 2013Abazi et al.; licensee BioMed Central Ltd.

Membranoproliferative glomerulonephritis type II (MPGN II), also known as a dense deposit disease, is a chronic progressive kidney disease that often progresses to end-stage renal disease within 10 years. Most patients also have multiple subretinal white spots or drusen-like deposits that are histopathologically identical to the glomerular basement membrane deposits. The purpose is to determine ocular findings in a patient with MPGN II before and after renal transplantation and to correlate them with clinical characteristics related to transplantation and review of literature. We present a case of a 45-year-old female with MPGN II who developed bilateral serous retinal detachment and retinal hemorrhages in the left eye, which appeared 6 months after a renal transplant. Ocular complications in our case, with the exception on the retina, were present at the cornea and iris. Changes to the eyes were independent of the renal disease, because there was no recurrence of MPGN II on the renal graft. © 2014 Springer Science+Business Media.