TY - JOUR
T1 - Multifocal choroiditis in patients with familial juvenile systemic granulomatosis
AU - Latkany, Paul A.
AU - Jabs, Douglas A.
AU - Smith, Justine R.
AU - Rosenbaum, James T.
AU - Tessler, Howard
AU - Schwab, Ivan R.
AU - Walton, R. Christopher
AU - Thorne, Jennifer E.
AU - Maguire, Albert M.
N1 - Funding Information:
This study was supported in part by Grant EY00405 from the National Eye Institute (Dr. Jabs) and T32 AI07451 from the National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland, and by an unrestricted grant from Research to Prevent Blindness, New York, New York. Dr. Thorne is the recipient of the Heed Ophthalmic Foundation Fellowship. Dr. Jabs is the recipient of a Research to Prevent Blindness Senior Scientific Investigator Award.
PY - 2002/12/1
Y1 - 2002/12/1
N2 - 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.
AB - 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.
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U2 - 10.1016/S0002-9394(02)01709-9
DO - 10.1016/S0002-9394(02)01709-9
M3 - Article
C2 - 12470760
AN - SCOPUS:0036895932
SN - 0002-9394
VL - 134
SP - 897
EP - 904
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 6
ER -