Gene Expression in Nonspecific Orbital Inflammatory Disease

描述（由申请人提供）： 非特异性眼眶炎症（NSOI）是一种引起疼痛、复视和视力丧失的炎症性疾病。NSOI的发病机制在很大程度上是未知的，几乎没有研究。基因表达的微阵列分析在提供疾病发病机制的新见解方面取得了显着的成功。此外，微阵列分析已被用于识别在许多情况下无法通过组织病理学区分的疾病的不同子集。我们建议利用福尔马林固定，石蜡包埋（FFPE）眼眶活检的微阵列基因表达谱来深入了解NSOI的发病机制。来自NSOI患者的眼眶组织的基因表达模式将与来自甲状腺眼眶病、结节病或韦格纳肉芽肿病患者的眼眶活检的基因表达模式以及来自正常眼眶脂肪、正常泪腺或眼外肌的模式进行比较。我们假设NSOI患者将有不同的基因表达模式，这将提供对疾病发病机制的见解。此外，我们假设NSOI是一种异质性疾病集合，并且这种异质性可以通过基因表达谱明确证明。最后，我们假设基因表达谱将有助于这种高度病态诊断的患者的预后和治疗决策。

DESCRIPTION (provided by applicant): Nonspecific orbital inflammation (NSOI) is an inflammatory disease which causes pain, diplopia, and loss of vision. The pathogenesis of NSOI is largely unknown and virtually unstudied. Microarray analysis of gene expression has enjoyed marked success in providing novel insights into disease pathogenesis. In addition, microarray profiling has been used to identify distinct subsets of disease that in many instances are indistinguishable by histopathology. We propose to utilize microarray gene expression profiling from formalin- fixed, paraffin-embedded (FFPE) orbital biopsies to gain insight into the pathogenesis of NSOI. Gene expression patterns from orbital tissue of patients with NSOI will be compared with gene expression patterns from orbital biopsies from patients with thyroid orbitopathy, sarcoidosis, or Wegener's granulomatosis as well as patterns from normal orbital fat, normal lacrimal gland, or extraocular muscle. We hypothesize that patients with NSOI will have distinct patterns of gene expression that will provide insights into the pathogenesis of the disease. Furthermore, we hypothesize that NSOI is a heterogeneous collection of diseases and that this heterogeneity can be definitively demonstrated by gene expression profiling. Finally we hypothesize that gene expression profiling will help in prognostic and therapeutic decision making for patients with this highly morbid diagnosis.