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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.

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.[1]


  1. Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Latkany, P.A., Jabs, D.A., Smith, J.R., Rosenbaum, J.T., Tessler, H., Schwab, I.R., Walton, R.C., Thorne, J.E., Maguire, A.M. Am. J. Ophthalmol. (2002) [Pubmed]
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