title: Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.
abstract: 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.
authors.affiliation: Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Paul A
authors.initials: PA
authors.lastname: Latkany
authors.forename: Douglas A
authors.initials: DA
authors.lastname: Jabs
authors.forename: Justine R
authors.initials: JR
authors.lastname: Smith
authors.forename: James T
authors.initials: JT
authors.lastname: Rosenbaum
authors.forename: Howard
authors.initials: H
authors.lastname: Tessler
authors.forename: Ivan R
authors.initials: IR
authors.lastname: Schwab
authors.forename: R Christopher
authors.initials: RC
authors.lastname: Walton
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Thorne
authors.forename: Albert M
authors.initials: AM
authors.lastname: Maguire
mesh_terms: 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
chemical_list: D000959:Antihypertensive Agents; D005938:Glucocorticoids