1/8. A case of McLeod syndrome with chronic renal failure.A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. Most often the clinical and pathological findings are retinitis pigmentosa to blindness, progressive chronic neuropathy, cortical atrophy, dilated cardiomyopathy, and glomerular lesion with chronic renal failure. Among the laboratory parameters the most important are very low level of cholesterol and triglycerides, then various numbers of acanthocytes in peripheral blood smears and sometimes in urine (as in our case).- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/8. retinitis pigmentosa, Coats disease and uveitis.PURPOSE: To study the anamnestic immune response to retinal specific antigens of two patients suffering from a rare triad of retinitis pigmentosa, Coats disease and uveitis. patients: 17-year-old girl presented with an acute episode of panuveitis, and her 19-year-old brother suffered from chronic uveitis. On examination, both patients showed retinal vascular changes and subretinal exudations typical of Coats disease, with bone-spicule pigmentary changes as observed in retinitis pigmentosa. RESULTS: All routine examinations were unrevealing. However, the peripheral lymphocytes from these two siblings gave a specific anamnestic response to retinal antigens in vitro. A stimulation index of 4.6 was obtained when the sister's lymphocytes were stimulated with interphotoreceptor binding protein, IRBP--during the acute stage of the uveitis. The brother's lymphocytes showed a stimulation index of 2.7 towards S-Ag during the chronic phase of his uveitic condition. CONCLUSIONS: These results indicate that autoimmunity towards retinal antigens may play some role in specific types of retinitis pigmentosa. Whether these autoimmune reactions are a primary pathological mechanism or are secondary to the extensive destruction of the photoreceptor layer resulting from the retinitis pigmentosa remains debatable.- - - - - - - - - - ranking = 1.5keywords = antigen (Clic here for more details about this article) |
3/8. Birdshot retinochoroidopathy in monozygotic twins.Birdshot retinochoroidopathy is a rare ocular disorder which was named and delineated as a separate clinical entity by Ryan & Maumenee in 1980. We diagnosed birdshot retinochoroidopathy in a monozygotic pair of twins, who were affected with a time interval of 12 years, respectively. These are the first with birdshot retinochoroidopathy to be reported from the Nordic countries and the first report on this disorder in monozygotic twins. Due to night-blindness, visual field defects and a severely affected electroretinogram one of our cases initially was diagnosed as a choroidoretinal dystrophy. Birdshot retinochoroidopathy should be kept in mind as a differential diagnosis in retinitis pigmentosa-like disorders with widespread choroidal involvement. Our cases substantiated the evidence of a strong correlation with the presence of HLA-A29 antigen.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
4/8. Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa.Immunocytochemistry has rarely been performed on donor retinas from patients with retinitis pigmentosa (RP), due to routine storage of tissues in fixatives that reduce or destroy antigenicity. The authors have developed a method to circumvent this problem and report light and electron microscopic histopathology and immunocytochemistry of an unusual retina from a 76-year-old man with multiplex RP. The retina shows loss of photoreceptors throughout (particularly rods), shortened foveal cone outer segments, and displaced photoreceptors in rosettes and tubules, an atypical pattern for RP. Antigenicity was recovered in this retina by treatment with sodium borohydride, and 17 antigens normally found in retina are present with expected distribution, although many cells have abnormal morphology. Most cone outer segments are immunoreactive with anti-blue but not anti-red/green cone opsin, whereas blue cone sensitivity is preferentially lost in many cases of RP. Psychophysical testing of the patient's sister, who has the same retinal disease, showed reduced rod and red/green cone sensitivities. This was consistent with the diminished numbers and size of rods and red/green cones found by immunocytochemistry in her brother's retina. The sister did not show blue cone hypersensitivity characteristic of a recently described retinal degeneration known as the "enhanced S cone syndrome."- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/8. Late developing lesions in birdshot retinochoroidopathy.Birdshot retinochoroidopathy is characterized by depigmented spots radiating from the optic disk in association with mild vitritis, retinal vasculitis, and involvement of the optic nerve head. In two patients, we traced the long-term course of uveitis with vitritis, retinal vasculitis, and papillitis that resulted in the typical cream-colored spots of birdshot retinochoroidopathy after seven and eight years, respectively, of follow-up. These observations suggest that in long-standing inflammation of the retinal vasculature and uveal tract, the HLA-A29 antigen should be assessed, because the development of typical lesions of birdshot retinochoroidopathy may be delayed in some patients.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
6/8. Cancer-associated retinopathy.Antiretina antibodies have been found in the serum samples of four patients with cancer experiencing concomitant loss of vision (cancer-associated retinopathy [CAR] syndrome). These immunoglobulins bound an antigen from normal pooled retina having a molecular weight of 23,000 daltons, which we describe as the CAR antigen. No corresponding antibodies could be found in serum samples obtained from patients with cancer not experiencing vision loss, from patients having retinitis pigmentosa, or from normally sighted individuals who did not have cancer. The early detection of rising antibody titers against the CAR antigen could prove important in the identification of patients likely to suffer from CARs.- - - - - - - - - - ranking = 1.5keywords = antigen (Clic here for more details about this article) |
7/8. retinitis pigmentosa: immunohistochemical and biochemical studies of the retina.Several immunohistochemical and biochemical characteristics of retinas from two patients with retinitis pigmentosa (RP) were examined. Histochemically, interphotoreceptor retinoid-binding protein (IRBP) was found in the interphotoreceptor space in small areas of preserved peripheral retina, although enzyme-linked immunosorbent assay suggested that little IRBP was present. antibodies to glial fibrillary acidic protein and factor viii-related antigen corroborated retinal gliosis and retinal vessel attenuation, respectively, in the RP cases. Fibronectin showed similar staining in normal and affected tissue.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
8/8. Expression of HLA-DR antigen on retinal pigment epithelial cells in retinitis pigmentosa.Class II (HLA-DR) antigens are cell surface molecules that play a major role in the initiation and perpetuation of immune responses. Although most cells do not constitutively express class II antigens, selected cells can be stimulated to do so in some immunologically mediated disorders. When retinal pigment epithelial cells were evaluated by either immunoperoxidase or immunofluorescent staining of frozen eye sections from normal individuals, hla-dr antigens were not detected. In contrast, retinal pigment epithelial cells from two patients with retinitis pigmentosa did express hla-dr antigens. These findings demonstrated that at some time during the course of retinitis pigmentosa, the retinal pigment epithelial cell is activated to express HLA-DR.- - - - - - - - - - ranking = 4keywords = antigen (Clic here for more details about this article) |