Eye and Immunogenetic Features of Sarcoidosis

This study will evaluate patients with sarcoidosis to understand how the disease affects the body. Sarcoidosis is a disease that results from inflammation of body tissues. The lungs, lymph nodes in the chest, skin and eyes are most commonly affected. As the disease progresses, small lumps, or granulomas, appear in the affected tissues. In most cases, the granulomas clear up, but in cases where they do not heal and disappear, the tissues tend to remain inflamed. Eye inflammation (uveitis) associated with sarcoidosis can cause various eye diseases, sometimes leading to blindness. This study will examine the clinical, immunological and genetic features of ocular sarcoidosis.

Patients 6 years of age and older with sarcoidosis may be eligible for this study. Candidates are screened with the following procedures:

• Completion of a questionnaire with medical, social and demographic information
• Blood draw for laboratory tests
• Complete eye examination, including measurement of eye pressure and dilation of the pupils to examine the back of the eye. Fluorescein angiography may be done. This test involves injecting a dye into a vein in the arm. The dye travels to the blood vessels in the eyes. A camera flashes a blue light into the eye and takes pictures of the retina that show whether the dye has leaked from the blood vessels into the retina. Other photographs of the eye may also be taken using a special camera.

Participants are followed in conjunction with their local eye doctor as required by the status of their disease. Patients whose disease is stable are seen for an initial examination and followed every 12 months for 3 years.