Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.
OBJECTIVE
To document clinical features of uveitis in patients with familial juvenile systemic granulomatosis.


METHODS
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.
Latkany
Paul A
PA
Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Jabs
Douglas A
DA
Smith
Justine R
JR
Rosenbaum
James T
JT
Tessler
Howard
H
Schwab
Ivan R
IR
Walton
R Christopher
RC
Thorne
Jennifer E
JE
Maguire
Albert M
AM
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000959:Antihypertensive Agents / Q000627:therapeutic use; D001168:Arthritis / Q000150:complications* / Q000188:drug therapy; D002386:Cataract / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002833:Choroiditis / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D005901:Glaucoma / Q000188:drug therapy / Q000209:etiology; D005938:Glucocorticoids / Q000627:therapeutic use; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D008297:Male; D018917:Optic Neuropathy, Ischemic / Q000188:drug therapy / Q000209:etiology; D010375:Pedigree; D012164:Retinal Diseases / Q000188:drug therapy / Q000209:etiology; D012171:Retinal Vessels / Q000187:drug effects / Q000473:pathology; D012189:Retrospective Studies; D014605:Uveitis / Q000150:complications* / Q000188:drug therapy
D000959:Antihypertensive Agents; D005938:Glucocorticoids