KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Thales Antonio Cabral de GuimaraesMichalis GeorgiouAnthony G RobsonMichel MichaelidesPublished in: Ophthalmic genetics (2020)
-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 lack of prospective long-term data in large molecularly confirmed cohorts, which is a prerequisite for accurate patient counselling/prognostication, to identify an optimal window for intervention and outcome measures, and ultimately to design future therapy trials. Herein we provide a detailed review of the clinical features, retinal imaging, electrophysiology and psychophysical studies, molecular genetics, and briefly discuss future prospects for therapy trials.
Keyphrases
- current status
- high resolution
- randomized controlled trial
- early onset
- single molecule
- genome wide
- computed tomography
- magnetic resonance imaging
- gene expression
- magnetic resonance
- electronic health record
- intellectual disability
- big data
- autism spectrum disorder
- bone marrow
- transcription factor
- hepatitis c virus
- deep learning
- human immunodeficiency virus
- duchenne muscular dystrophy
- image quality
- protein kinase
- hiv testing
- data analysis