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

doi:10.1080/13816810.2021.1920039

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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...

Topics

Adult
Antirheumatic Agents
Consanguinity
Electroretinography
Female
Frameshift Mutation
Genetic Testing
Humans
Hydroxychloroquine
Lupus Erythematosus, Systemic
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Potassium Channels, Voltage-Gated

Retinal Cone Photoreceptor Cells

Retinal Rod Photoreceptor Cells

Retinitis Pigmentosa

Tomography, Optical Coherence

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33960280
DOI: 10.1080/13816810.2021.1920039
PMCID: PMC10234695

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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