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Article

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.

Ophthalmic genetics - 1 Aug 2021

Liu Pei-Kang, Ryu Joseph, Yeh Lung-Kun, Chen Kuan-Jen, Tsang Stephen H, Liu Laura, Wang Nan-Kai

Abstract excerpt

BACKGROUND: Cone dystrophy with supernormal rod response (CDSRR) is a rare inherited retinal degeneration. A patient superimposed with medical conditions requiring use of hydroxychloroquine (HCQ) may obscure accurate diagnosis of CDSRR. Herein, we report a referral case for HCQ retinopathy screening. Comprehensive ophthalmic examinations, however, guided the diagnosis of CDSRR from a novel mutation in potassium...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Potassium Channels, Voltage-Gated

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Source

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Identifiers

PMID: 33960280
DOI: 10.1080/13816810.2021.1920039
PMCID: PMC10234695

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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