Guimaraes, TACD;
Georgiou, M;
Robson, AG;
Michaelides, M;
(2020)
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Ophthalmic Genetics
10.1080/13816810.2020.1766087.
(In press).
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Abstract
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 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.
| Type: | Article |
|---|---|
| Title: | KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/13816810.2020.1766087 |
| Publisher version: | https://doi.org/10.1080/13816810.2020.1766087 |
| Language: | English |
| Additional information: | Copyright © 2020 The Author(s). Published with license by Taylor & Francis Group, LLC. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | KCNV2, ERG, Gene therapy, cone dystrophy, cone-rod dystrophy, molecular genetics, potassium channels, retinal dystrophy, supernormal rod responses |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10099263 |
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