Abstract：
PURPOSE:To document clinical features of uveitis in patients with familial juvenile systemic granulomatosis. DESIGN:Retrospective chart review. METHODS:Ophthalmologic examination, medical history, and clinical course in 16 patients from eight families examined at six academic medical centers. RESULTS:Of the 16 patients, 15 had evidence of panuveitis with multifocal choroiditis. One patient had only an anterior uveitis. Ischemic optic neuropathy, presumably due to a small vessel vasculopathy, and retinal vasculopathy each occurred in one patient. Ocular complications were common, including cataracts in 11, glaucoma in six, band keratopathy in six, cystoid macular edema in six, and optic disk edema in six. All 16 patients had polyarthritis, and at least nine had skin rash. Often patients were misdiagnosed initially as having either juvenile rheumatoid arthritis or sarcoidosis. CONCLUSIONS:Familial juvenile systemic granulomatosis is an uncommon genetic disease characterized by polyarthritis and uveitis. Panuveitis and multifocal choroiditis often may be present. Patients with a diagnosis of juvenile rheumatoid arthritis but having a family history of the disease and multifocal choroiditis should be suspected of having familial juvenile systemic granulomatosis.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Latkany PA,Jabs DA,Smith JR,Rosenbaum JT,Tessler H,Schwab IR,Walton RC,Thorne JE,Maguire AMdoi
10.1016/s0002-9394(02)01709-9subject
Has Abstractpub_date
2002-12-01 00:00:00pages
897-904issue
6eissn
0002-9394issn
1879-1891pii
S0002939402017099journal_volume
134pub_type
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