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KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.

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.

SUBMITTER: Guimaraes TAC

PROVIDER: S-EPMC7446039 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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<i>KCNV2</i> retinopathy: clinical features, molecular genetics and directions for future therapy.

Guimaraes Thales A C De TAC Georgiou Michalis M Robson Anthony G AG Michaelides Michel M

Ophthalmic genetics 20200522 3

<h4>Kcnv2</h4>-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<sup>+</sup> 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 coh ...[more]

PMID: 32441199

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