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Goldmann-Favre Syndrome: Case Series
Serdar Özateş1, Kemal Tekin2, Mehmet Yasin Teke3
1University of Health Sciences, Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ophthalmology Clinic, Ankara, Turkey.
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.
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