Synovitis granulomatous with uveitis and cranial neuropathies
Overview
A very rare genetic disorder characterized by joint inflammation, inflammation of the uvea (layer between sclera and retina) and cranial neuropathy (damage to cranial nerves).
Symptoms
* Granulomatous synovitis * Boggy polysynovitis of hands * Boggy polysynovitis of wrists * Boutonniere deformities of hands * Acute iridocyclitis * Cranial neuropathy * Neurosensory hearing loss * 6th cranial nerve palsy * Inflammation of uvea of the eye
Causes
Typically, uveitis is idiopathic. However, it can result from allergy, bacteria, viruses, fungi, chemicals, trauma, or surgery; or it may be associated with systemic diseases, such as rheumatoid arthritis, ankylosing spondylitis, and toxoplasmosis. Uveitis occurs in 15 of every 100,000 people.
Diagnosis
* Eye Tests * Vision Tests
Treatment
Uveitis requires vigorous and prompt management, which includes treatment for any known underlying cause — corticosteroids with antibiotic therapy for infectious diseases and suppression therapy for autoimmune diseases — and application of a topical cycloplegic, such as 1% atropine sulfate, and of topical corticosteroids applied three to four times daily. For severe uveitis, therapy includes oral systemic corticosteroids. Alert Long-term steroid therapy can cause a rise in IOP or cataracts. Carefully monitor IOP during acute inflammation. If IOP rises, therapy should include an antiglaucoma medication, such as brimonidine (Alphagan), an alpha2-adrenergic agonist, or dorzolamide (Trusopt), a sulfonamide. Occasionally, posterior uveitis requires systemic immunosuppression with azathioprine or cyclosporine.