Goldmann-Favre Syndrome: Case Series

Abstract

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