Goldmann-favre syndrome: Case series
Turkish Journal of Ophthalmology, cilt.48, sa.1, ss.47-51, 2018 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48 Sayı: 1
- Basım Tarihi: 2018
- Doi Numarası: 10.4274/tjo.76158
- Dergi Adı: Turkish Journal of Ophthalmology
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.47-51
- Anahtar Kelimeler: Goldmann-Favre syndrome, retina, optic coherence tomography
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.