title: Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I.
abstract: OBJECTIVE
  To present a case of autoimmune retinopathy resulting from a mutation in the autoimmune regulator (AIRE) gene.
  
  
  METHODS
  Case study.
  
  
  METHODS
  Case review.
  
  
  RESULTS
  Mild improvement of goldmann visual field following treatment with systemic and local immunosuppression.
  
  
  CONCLUSIONS
  There are a limited number of cases linking autoimmune retinopathy with a mutation in the AIRE gene. Further research is needed to find more effective treatment and to prevent tissue damage.
authors.affiliation: Department of Ophthalmology, University of Minnesota, Minneapolis, Minnesota 55455-0501, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Breunig
authors.forename: Michael S
authors.initials: MS
authors.lastname: Lee
authors.forename: Bradley S
authors.initials: BS
authors.lastname: Miller
authors.forename: Bryce A
authors.initials: BA
authors.lastname: Binstadt
authors.forename: Mark S
authors.initials: MS
authors.lastname: Anderson
authors.forename: Sandra
authors.initials: S
authors.lastname: Montezuma
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000235:genetics / Q000276:immunology; D012164:Retinal Diseases / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult; D000096927:AIRE Protein
chemical_list: D004247:DNA; D004268:DNA-Binding Proteins; D014157:Transcription Factors; D000096927:AIRE Protein