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

Blue cone monochromatism (BCM) is an X-linked recessive cone dysfunction disorder caused by mutations in the OPN1LW/OPN1MW 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 novel mutation in the O...

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Detalles Bibliográficos
Autores principales: Iarossi, Giancarlo, Coppè, Andrea Maria, Passarelli, Chiara, Maltese, Paolo Enrico, Sinibaldi, Lorenzo, Cappelli, Alessandro, Cetola, Sarah, Novelli, Antonio, Buzzonetti, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395340/
https://www.ncbi.nlm.nih.gov/pubmed/34445325
http://dx.doi.org/10.3390/ijms22168617

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395340/
https://www.ncbi.nlm.nih.gov/pubmed/34445325
http://dx.doi.org/10.3390/ijms22168617

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