Article
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Molecular vision - 1 Jan 2022
Khateb Samer, Shemesh Aya, Offenheim Ashly, Sheffer Ruth, Ben-Yosef Tamar, Chowers Itay, Leibu Rina, Baumann Britta, Wissinger Bernd, Kohl Susanne, Banin Eyal, Sharon Dror
Abstract excerpt
Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy caused by mutations in the red and green cone opsin genes. The aim of this study was to establish the clinical, genetic, and electrophysiological characteristics of a specific form of BCM. Methods: Patients harboring mutations in the OPN1LW/OPN1MW genes underwent a full clinical examination, including ocular examination, color vision, full-field...
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