Goldmann-Favre Syndrome: Case Series

  • Turk J Ophthalmol. 2018 Feb;48(1):47-51. doi: 10.4274/tjo.76158.
Serdar Özateş  1 ,  Kemal Tekin  2 ,  Mehmet Yasin Teke  3
Affiliations
  • 1. University of Health Sciences, Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ophthalmology Clinic, Ankara, Turkey.
  • 2. Kars Harakani State Hospital, Ophthalmology Clinic, Kars, Turkey.
  • 3. University of Health Sciences, Ulucanlar Eye Training and Research Hospital, Ophthalmology Clinic, Ankara, Turkey.
PMID: 29576899 DOI: 10.4274/tjo.76158
Abstract

Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discussed in light of the literature.

Keywords
Goldmann-Favre syndrome; optic coherence tomography; retina.