HLA Alleles in a Behçet Disease Multiethnic Population With and Without Ophthalmic Manifestations.

OBJECTIVE: The aim of this study was to analyze HLA alleles in patients with Behçet disease (BD) and their correlation with ophthalmic manifestations (OMs) in a multiethnic Brazilian population. METHODS: This case-control study compared 72 BD patients with or without OM who underwent a thorough ophthalmologic evaluation, including best-corrected visual acuity, bino-ophthalmoscopy, and HLA analysis, with 144 matched healthy controls. Fluorescein angiography was also performed in the patients with BD and OM. HLA class I (A, B, and C) and II (DRB1, DQB1, and DQA1) typing were performed using PCR-SSO. RESULTS: Of 72 patients with BD, 42 (58%) had OM. The HLA-B*51 and -A*26 alleles were more frequent in patients with BD than in controls (23.6% vs 14.6% and 12.5% vs 4.3%, respectively), but could not differentiate OM risk. The HLA alleles of BD patients that differentiated those with and without OM were HLA-B*15 (40.5% vs 20.7%; odds ratio [OR], 2.59; p = 0.0059), HLA-C*02 (33.3% vs 13.4%; OR, 3.20; p = 0.0024), and HLA-DQB1*03 (64.3% vs 45.7%, p = 0.017), whereas HLA-A*03 (0.0% vs 13.3%, p = 0.006) and HLA-DRB1*15 (4.8% vs 19.5%; OR, 0.21; p = 0.0121) were protective against OM. CONCLUSIONS: In this study of a Brazilian multiethnic BD population, alleles were similar between groups of BD patients with and without OM. We described HLA-B*15, -C*02, and -DQB1*03 as risk factors and -A*03 and -DRB1*15 as protective factors for OM in BD, which could function as biomarkers for predicting disease phenotypes.

Ocular involvement in patients with spondyloarthritis.

Ocular inflammatory diseases can present as isolated conditions but also as part of systemic inflammatory diseases. Anterior uveitis is closely related to SpA and shares the common genetic background of HLA-B27. Other ocular manifestations, such as episcleritis and scleritis, may also occur, although less frequently. Therefore, ocular involvement has been included as one of the important clinical features of SpA in the recently published classification criteria for axial and peripheral disease. However, there are a wide variety of aetiologies for ocular diseases and this must be considered in assessment of SpA.

The autoimmune diseases of the eyes.

The eye is divided anatomically in three layers: an outer or fibrous layer (cornea/sclera), middle or vascular layer (uvea - iris, ciliary body, and choroid) and an inner or sensorineural layer (retina). They compose the several anatomic and functional layers that enable the immune protection of the eye. The first layer involves an intact anatomic border with the blood-ocular barrier and immunosuppressive neuropeptides in the native aqueous humor. The second layer trusts on the capability of the eye to reestablish an immunosuppressive micro-environment by activating latent TGF-ß and reestablishing the anterior chamber-associated immune deviation. The third layer involves a mechanism that is not yet completely recognized, but that has the ability to overcome a predominantly Th1 intraocular immune response and to reestablish anterior chamber-associated immune deviation. Understanding the comprehensive mechanisms of these pathways, will lead to the development of new treatments strategies in order to prevent damage to the eye from persistent or exacerbated inflammation, directed at first to pathogens, but that may develop an autoimmune reaction.

Ocular findings in patients with alopecia areata: role of ultra-wide-field retinal imaging.

Alopecia areata is understood as an autoimmune disease T cell-mediated mainly involving hair follicles in humans. It is a multifactorial aetiologic disease characterised by non-scarring alopecia and asymptomatic areas, affecting approximately 2 % of dermatology patients. Recent studies suggest that the pathogenesis of AA plays an important role in the association of certain HLA groups, neuroendocrine parameters and immunogenic factors. During 3 months (March to May 2013) at Hospital Clínic de Barcelona, 22 patients with severe alopecia areata underwent ophthalmic examination to determine whether there were ocular findings in the following parameters: Best-corrected visual acuity on decimal Snellen optotype, anterior segment slit-lamp examination and photograph, intraocular pressure measurement and dilated fundoscopy. Ultra-wide-field retinal imaging with or without red-free photograph was carried out with the Optomap 200 Tx (Optos, DunFermline, UK). Forty-four eyes of 22 patients were analysed [15 females (68.2 %)]. The mean age was 38.9 (SD 13.7) and mean time of evolution was 19.9 years (SD 16.3). Alopecia areata clinical patterns were multifocal [n = 10 (45.5 %)], universalis [n = 7 (31.8 %)], totalis [n = 3 (13.6 %)] and focal [n = 2 (9.1 %)]. Best-corrected visual acuity was 1.0 in almost all patients, but only three eyes (6.8 %) had vision of 0.7. Ocular findings were as follows: madarosis [n = 7 partial loss of eyelashes (31.85 %) and n = 4 total loss (18.2 %)], lens changes [n = 4 (18.2 %)], cataract [n = 3 (13.65 %)]. Ultra-wide fundus photography examination showed peripheral drusen [n = 17 eyes (38.6 %)], white-without-pressure changes [n = 8 eyes (18.22 %)] and peripheral retinal degenerations [n = 3 eyes (6.81 %)]. Ocular findings in patients with alopecia areata are reported and discussed by dermatologic and ophthalmic evaluation.

Cutting-edge issues in autoimmune uveitis.

Autoimmune uveitis (AIU) is among the leading causes of preventable blindness. It can be isolated, precede, or appear in the course of a systemic autoimmune inflammatory disease. When suspected, AIU should be promptly referred to an ophthalmologist for proper anatomic classification and local treatment. In recurrent and chronic forms, systemic treatment should be started, usually with corticosteroids and immunesuppressors. In cases of lack of efficacy or intolerance, biologic agents such as monoclonal antibodies anti-TNF (infliximab and adalimumab) and others (abatacept and tocilizumab) are being used. The clinical diseases associated to AIU and the experimental models have helped in the understanding of the pathogenic mechanism. The treatment schemes have improved, and recent advances in basic knowledge are leading to even more effective targeted therapies.