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Goldmann-Favre Syndrome: Case Series.

Serdar ÖzateşKemal TekinMehmet Yasin Teke
Published in: Turkish journal of ophthalmology (2018)
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.
Keyphrases
  • case report
  • systematic review
  • optical coherence tomography
  • genome wide
  • copy number
  • gene expression
  • dna methylation
  • transcription factor