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Article

Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.

Ophthalmic genetics - 1 Aug 2024

de Guimaraes Thales A C, Lai Francesco, Colombatti Raffaella, Sato Giovanni, Rizzo Roberta, Kalitzeos Angelos, Michaelides Michel

Abstract excerpt

BACKGROUND: Disease-causing variants in the KCNV2 gene are associated with "cone dystrophy with supernormal rod responses," a rare autosomal recessive retinal dystrophy. There is no previous report of hypomorphic variants in the disease. MATERIAL AND METHODS: Medical history, genetic testing, ocular examination, high-resolution retinal imaging including adaptive optics scanning light ophthalmoscopy (AOSLO), and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38454848
DOI: 10.1080/13816810.2024.2324046
PMCID: PMC11404858

Genes

KCNV2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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