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Article

Natural history and biomarkers of KCNV2-associated retinopathy.

Clinical & experimental ophthalmology - 1 Jul 2024

Sakti Dhimas H, Cornish Elisa E, Ali Haipha, Retsas Stephanie, Raza Marium, Saakova Nonna, Carvalho Livia S, Nash Benjamin M, Jamieson Robyn V, Grigg John R

Abstract excerpt

BACKGROUND: KCNV2-associated retinopathy is an autosomal recessive inherited retinal disease classically named cone dystrophy with supernormal rod response (CDSRR). This study aims to identify the best biomarker for evaluating the condition. METHODS: A retrospective review of eight patients from seven families with genetically confirmed KCNV2-associated retinopathy was performed. The best corrected visual acuity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38443311
DOI: 10.1111/ceo.14373

Genes

KCNV2
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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