Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.

ABSTRACT:

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 electroretinography, color fundus and autofluorescence photography, and optical coherence tomography. Genetic analysis was performed using whole-exome sequencing, duplex PCR, PCR/restriction fragment length polymorphism, and Sanger sequencing. IBM SPSS Statistics v. 21.0 was used for the data analysis.

Results

Twenty-five patients harboring various haplotype

SUBMITTER: Khateb S 

PROVIDER: S-EPMC8942453 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature