ABSTRACT
Birdshot retinochoroidopathy (BSRC) is a distinct type of posterior uveitis originally described in the 1940s. Its characteristics include minimal anterior segment inflammation and diffuse posterior choroidopathy with vitritis and retinal vasculitis. The precise etiology of this disease is yet to be elucidated. However, various treatment modalities have been employed with the ultimate goal of durable remission of this vision threatening intraocular disease. The purpose of this review is not only to emphasize the importance of recognizing BSRC, but also to discuss the new discoveries, immune mediators, current and new therapies, and techniques applied to monitor and accomplish disease remission.
Retinocoroidopatia do tipo "birdshot" é um tipo de uveíte posterior originalmente descrita na década de 1940. Achados característicos incluem inflamação mínima do segmento anterior, retinocoroidopatia difusa associada à vitreíte e vasculite retiniana. A etiologia da doença ainda não foi completamente definida, entretanto várias modalidades de tratamento têm sido utilizadas com o objetivo de atingir a remissão. O objetivo desta revisão é enfatizar não só a importância do reconhecimento da doença como também discutir novas descobertas relacionadas a mediadores imunes, formas de tratamentos e como monitorar a doença.
Subject(s)
Humans , Retinal Diseases , Choroid Diseases , Chorioretinitis , Antibodies, Monoclonal, Humanized/therapeutic use , Retinal Diseases/diagnosis , Retinal Diseases/immunology , Retinal Diseases/drug therapy , Remission Induction , Fluorescein Angiography , HLA-A Antigens/immunology , Choroid Diseases/diagnosis , Choroid Diseases/immunology , Choroid Diseases/drug therapy , Chorioretinitis/diagnosis , Chorioretinitis/immunology , Chorioretinitis/drug therapy , Diagnosis, Differential , Drug Therapy, Combination , Electroretinography , Immunosuppressive Agents/therapeutic useABSTRACT
HLA-A24 is the second most frequently expressed HLA-A type in Koreans (GF 22.8%). Four different serologic reaction patterns were observed in Korean A24 positive samples using a commercial serologic typing kit. To clarify the nature of serologic heterogeneity, thirteen A24 positive DNA samples representing the four different serologic reaction patterns were subjected to DNA sequencing analysis of the amplified HLA-A genes from each sample. Four A*24 alleles (A*2402101, A*2403, A*2408, and A*2421) were associated with the four unique serologic reaction patterns. During this study, a novel allele, A*2421, was characterized. The new sequence is similar to A*2402101, differing at codon 127 (AAA-->AAC; K-->N). By comparing putative amino acid sequences and serologic reaction patterns of A*24 allelic products identified in this study, several crucial sites for A24- and A9-specific antibody binding were predicted: 127K for A24 antibody binding, and 62E-65G and 166D-167G for A9 antibody binding. This information will be helpful for accurately assigning HLA-A24 types by serology and for predicting serologic types of new alleles.
Subject(s)
Female , Humans , Male , Alleles , Base Sequence , Binding Sites, Antibody , DNA, Complementary , Genetic Heterogeneity , HLA-A Antigens/immunology , HLA-A Antigens/genetics , Korea , Molecular Sequence Data , PedigreeABSTRACT
This study included 54 unselected patients with rheumatic heart disease (RHD) with or without history of rheumatic fever and 224 control subjects, all Kashmiris. HLA-A19 was increased in 42.59 percent of patient population as against 23.66 percent of controls, with a relative risk of 2.39. HLA-DR4 was positive in 56 percent of patients as against 31.69 percent in controls with a relative risk of 2.74. DQ3 was also present in 72 percent of patient population as against 50.7 percent of controls. These findings suggest a genetic predisposition to rheumatic fever/RHD. More family studies are warranted.