Comments and Conclusions

  • This case represents a rare opportunity to evaluate a patient who was one of the original 13 described by Dr. Gass in his 1993 intriguing and ground breaking article that described AZOOR for the first time.1
  • If our patient was seen without 2 decades of detailed records, the probable diagnosis at this recent presentation would be retinitis pigmentosa.
  • If genetic testing reveals one of the RP genes2, the initial diagnosis of AZOOR was likely incorrect.
  • If genetic testing fails to reveal an RP gene, then AZOOR may be the correct diagnosis and AZOOR, at least in one case, may progress to a clinical picture which is indistinguishable from RP.
  • In a future Retina Revealed presentation, follow-up of this and other cases including genetic analysis will be highlighted: Stay tuned!