Cone Dystrophy with Supernormal Rod Response

Zelinger, Lina; Wissinger, Bernd; Eli, Dalia; Kohl, Susanne; Sharon, Dror; Banin, Eyal

doi:10.1016/j.ophtha.2013.03.031

Cited by 23 publications

(12 citation statements)

References 18 publications

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“…The combination of clinical, imaging, and ERG findings that characterize the phenotype of KCNV2-retinopathy are highly suggestive of the disease. Nevertheless, it remains possible that the condition is underdiagnosed due to a lack of clinical awareness of this particular phenotype, limited access to specialist ERG testing or failure to recognize the pathognomonic ERG features, which are not always associated with a DA strong flash ERG b-wave of abnormally high amplitude, and also a lack of genetic testing (13,16,22,23).…”

Section: Electrophysiology Pupillometry and Psychophysicsmentioning

confidence: 99%

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

Guimarães

Georgiou

Robson

et al. 2020

Ophthalmic Genetics

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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 voltagegated 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.

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Section: Electrophysiology Pupillometry and Psychophysicsmentioning

confidence: 99%

“…More than 100 patients and 95 different variants have been reported across 22 studies (4,7,(10)(11)(12)(13)(14)(20)(21)(22)(23)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46). Supplementary table summarizes the previously described variants, including conservation, in silico prediction and frequency assessment.…”

Section: Reported Sequence Variantsmentioning

confidence: 99%

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

Guimarães

Georgiou

Robson

et al. 2020

Ophthalmic Genetics

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“…The assembly of K v 8.2 with K v 2.1 (KCNB1) results in a permanent outward K + current in the photoreceptors with lower membrane potential required for activation and reduced deactivation kinetics [110]. Recessive mutations in KCNV2 have been associated with cone dystrophy with supernormal rod responses (CDSRRs) [39,50,114,115]. Patients with CDSRR present with photophobia, nyctalopia, reduced color perception, macular changes in later stages of the disease, and reduced and delayed cone response in addition to supernormal ERG b-wave [116][117][118][119][120][121].…”

Section: Kcnv2 (Voltage-gated K + Channel)mentioning

confidence: 99%

Sensing through Non-Sensing Ocular Ion Channels

Kabra

Pattnaik

2020

IJMS

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Ion channels are membrane-spanning integral proteins expressed in multiple organs, including the eye. In the eye, ion channels are involved in various physiological processes, like signal transmission and visual processing. A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute significantly to an array of blindness, termed ocular channelopathies. These mutations result in either a loss- or gain-of channel functions affecting the structure, assembly, trafficking, and localization of channel proteins. A dominant-negative effect is caused in a few channels formed by the assembly of several subunits that exist as homo- or heteromeric proteins. Here, we review the role of different mutations in switching a “sensing” ion channel to “non-sensing,” leading to ocular channelopathies like Leber’s congenital amaurosis 16 (LCA16), cone dystrophy, congenital stationary night blindness (CSNB), achromatopsia, bestrophinopathies, retinitis pigmentosa, etc. We also discuss the various in vitro and in vivo disease models available to investigate the impact of mutations on channel properties, to dissect the disease mechanism, and understand the pathophysiology. Innovating the potential pharmacological and therapeutic approaches and their efficient delivery to the eye for reversing a “non-sensing” channel to “sensing” would be life-changing.

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“…Over 100 different diseaseassociated variations in the KCNV2 gene have been reported, but the number of publications focusing on patients in the East Asian population is very limited (5,13). Moreover, only a few reports have described the electrophysiological and morphological natural history of KCNV2 retinopathy (3)(4)(5)(6)(7)(8)(9)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Here, we report the longterm follow-up of a Chinese patient with CDSRR caused by biallelic pathogenic KCNV2 variants.…”

Section: Introductionmentioning

confidence: 96%