Retina-Vitreous
2011 , Vol 19 , Num 4
Cone Dytrophy with Rod Supernormal Electroretinogram: KCNV2 Mutation
1Etimesgut Asker Hastanesi, Göz Hastalıkları, Ankara, Uz. Dr.2Ankara Mevki Asker Hastanesi, Göz Hastalıkları, Ankara, Uz. Dr.
3Gülhane Askeri Tıp Akademisi, Göz Hastalıkları A.D., Ankara, Prof. Dr. Full-field electroretinogram (ERG) represents the mass retinal response to a flash of light. The functions of the rod and cone photoreceptors may be explored by means of ERG. The electrical response arising from both rod and cone photoreceptors may be evaluated with ‘standard combined response'. In this case report, the clinical and electrophysiological properties of a patient with ‘cone dystrophy and supernormal rod response amplitude in ERG' in which KCNV2 mutation was shown to be pathognomonic will be discussed. Keywords : Electroretinography, KCNV2 protein