Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in <i>OPN1LW/OPN1MW</i> and <i>GPR143</i> Genes

Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in <i>OPN1LW/OPN1MW</i> and <i>GPR143</i> Genes

Blue cone monochromatism (BCM) is an X-linked recessive cone dysfunction disorder caused by mutations in the <i>OPN1LW/OPN1MW</i> gene cluster, encoding long (L)- and middle (M)-wavelength-sensitive cone opsins. Here, we report on the unusual clinical presentation of BCM caused by a nove...

Full description

Bibliographic Details
Main Authors: Giancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, Paolo Enrico Maltese, Lorenzo Sinibaldi, Alessandro Cappelli, Sarah Cetola, Antonio Novelli, Luca Buzzonetti
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
blue cone monochromatism
X-linked inheritance
foveal hypoplasia
<i>OPN1LW/OPN1MW</i> gene cluster
Online Access:https://www.mdpi.com/1422-0067/22/16/8617

Internet

https://www.mdpi.com/1422-0067/22/16/8617

Similar Items