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15.03.2019 | Clinical Case Report

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

verfasst von: Tomoko Kutsuma, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Daisuke Iejima, Tamaki Gekka, Kenichi Kohzaki, Kei Mizobuchi, Yukari Baba, Ryo Terauchi, Tomokazu Matsuura, Shinji Ueno, Takeshi Iwata, Tadashi Nakano

Erschienen in: Documenta Ophthalmologica | Ausgabe 3/2019

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Abstract

Purpose

To report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR).

Methods

Ophthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed. Identified KCNV2 variants were confirmed by Sanger sequencing.

Results

A 30-year-old female patient was referred to our hospital for assessment of decreased vision from childhood. Funduscopy showed macular atrophy in both eyes. FF-ERG showed decreased amplitudes and delayed peak time of b-waves for dark-adapted (DA) 0.01 ERG, increased b/a-wave ratio with a slightly diminished a-wave for DA 3.0 and DA 25.7 ERG, residual a-waves and almost extinguished b-waves for light-adapted (LA) 3.0 ERG, and extremely diminished amplitudes in LA 30-Hz flicker responses. At 45 years of age, funduscopy showed progressive macular atrophy, whereas the responses for her FF-ERG remained unchanged compared to those observed at 30 years of age. WES identified the compound heterozygous KCNV2 variants (p.W67X and p.D174GfsX198) in the patient. These variants have previously been unreported as pathogenic variants. Each parent had one of the variants. Subsequently, the patient was finally diagnosed with CDSRR with the novel compound heterozygous KCNV2 variants.

Conclusions

Biallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy.

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Titel: Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses
verfasst von: Tomoko Kutsuma
Satoshi Katagiri
Takaaki Hayashi
Kazutoshi Yoshitake
Daisuke Iejima
Tamaki Gekka
Kenichi Kohzaki
Kei Mizobuchi
Yukari Baba
Ryo Terauchi
Tomokazu Matsuura
Shinji Ueno
Takeshi Iwata
Tadashi Nakano
Publikationsdatum: 15.03.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Documenta Ophthalmologica / Ausgabe 3/2019
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-019-09679-6

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Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

Abstract

Purpose

Methods

Results

Conclusions

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Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

Bakterielle endogene Endophthalmitis

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

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