[KCNV2-associated cone dystrophy case report: Clinical and electrophysiological features]

J Fr Ophtalmol. 2023 Dec;46(10):e374-e377. doi: 10.1016/j.jfo.2023.05.019. Epub 2023 Sep 1.

[Article in French]

Authors

L Pasquier¹, J Coursimault², W Side³, A Goldenberg², M Muraine⁴

Affiliations

¹ Service d'ophtalmologie, CHU de Charles-Nicolle, 1, rue de Germont, 76031 Rouen cedex, France. Electronic address: liane.pasquier@chu-rouen.fr.
² Service de génétique clinique, CHU de Charles-Nicolle, 1, rue de Germont, 76031 Rouen cedex, France.
³ Cabinet d'ophtalmologie, 304, rue Jean-Badin, 76360 Barentin, France.
⁴ Service d'ophtalmologie, CHU de Charles-Nicolle, 1, rue de Germont, 76031 Rouen cedex, France.

PMID: 37661494
DOI: 10.1016/j.jfo.2023.05.019

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Cone Dystrophy*
Electroretinography
Humans
Mutation
Potassium Channels, Voltage-Gated* / genetics
Retinal Cone Photoreceptor Cells / physiology
Retinitis Pigmentosa*

Substances

KCNV2 protein, human
Potassium Channels, Voltage-Gated