Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I

Ocul Immunol Inflamm. 2013 Apr;21(2):153-7. doi: 10.3109/09273948.2012.754906.


Purpose: To present a case of autoimmune retinopathy resulting from a mutation in the autoimmune regulator (AIRE) gene.

Design: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Female
  • Humans
  • Mutation*
  • Polyendocrinopathies, Autoimmune / complications*
  • Polyendocrinopathies, Autoimmune / genetics
  • Polyendocrinopathies, Autoimmune / immunology
  • Retinal Diseases / etiology*
  • Retinal Diseases / genetics
  • Retinal Diseases / immunology
  • Transcription Factors / genetics*
  • Young Adult


  • APECED protein
  • DNA-Binding Proteins
  • Transcription Factors
  • DNA