Study of Eye Tissue for Sarcoidosis

Overview

The purpose of this study is to develop a relatively simple, accurate method of diagnosing sarcoidosis. Sarcoidosis is a disease in which granulomas (nodules of inflamed tissue) develop in various organs, such as the lungs, liver, skin and eyes. Disease symptoms vary depending on the tissues involved. Many patients develop uveitis (eye inflammation). Tissue biopsy-often a costly and difficult invasive procedure-is currently the only definitive diagnostic test for sarcoidosis. Other tests, such as blood and urine tests, do not provide definitive results. Patients with uveitis that is 1) known to be due to sarcoidosis; 2) suspected to be due to sarcoidosis based on specific diagnostic criteria; and 3) known not to be due to sarcoidosis may be enrolled in this study. Participants will undergo an eye examination, blood tests, chest X-ray, and skin test for tuberculosis and other infections. Small tissue samples from the conjunctiva (the thin lining covering the outside of the eye and the inside of the eyelid) and the lacrimal (tear) gland will be taken after the eye is numbed with anesthetic drops and injection. Investigators will examine and compare levels of certain proteins in the biopsied tissues from the three patient groups to see if elevated levels of these substances may indicate granuloma formation. Development of a new, relatively simple diagnostic test for sarcoidosis based on these findings may permit doctors to start appropriate therapy earlier in the course of disease without invasive biopsy.

The purpose of this study is to develop a method of diagnosing sarcoidosis in patients with presumed sarcoid uveitis. We plan to test conjunctival and lacrimal gland biopsy specimens from three groups of patients: patients with known, biopsy proven sarcoidosis, patients with suspected sarcoidosis, and patients with uveitis of an etiology other than sarcoidosis. Specimens will be tested for presence of cytokines, cell surface markers, and specific T cell receptor gene elements with immunohistochemical techniques using monoclonal antibodies. It has been shown that the diagnostic value of conjunctival and lacrimal gland biopsy looking for the presence of non-caseating granuloma in the absence of discrete nodules is low. Assaying for cytokines, cell surface markers, and specific T cell receptor gene elements may provide a more sensitive and specific diagnostic test for sarcoidosis in patients with presumed sarcoid eye disease.