Article
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Ophthalmic genetics - 1 Jun 2020
Guimaraes Thales A C De, Georgiou Michalis, Robson Anthony G, Michaelides Michel
Abstract excerpt
KCNV2: -associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments. Currently, no treatment is available for the condition. However, there is a...
Topics
- Genetic Therapy
- Humans
- Mutation
- Potassium Channels, Voltage-Gated
- Retinal Diseases