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

  • Khateb, Samer1
  • Shemesh, Aya1
  • Offenheim, Ashly1
  • Sheffer, Ruth2
  • Ben-Yosef, Tamar3
  • Chowers, Itay1
  • Leibu, Rina4
  • Baumann, Britta5
  • Wissinger, Bernd5
  • Kohl, Susanne5
  • Banin, Eyal1
  • Sharon, Dror1
  • 1 Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel. , (Israel)
  • 2 Department of Genetics, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel. , (Israel)
  • 3 Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. , (Israel)
  • 4 Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel. , (Israel)
  • 5 Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany. , (Germany)
Published Article
Molecular vision
Publication Date
Jan 01, 2022
PMID: 35400991


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. 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. Twenty-five patients harboring various haplotypes in exon 3 of the OPN1LW/OPN1MW genes were recruited. They showed a milder incomplete phenotype of BCM than the typical BCM control group. They presented significantly better visual acuity (logarithm of the minimum angle of resolution [logMAR] 0.48 ± 0.26 vs. 1.10 ± 0.54; p < 0.0001) and a highly myopic refraction (-7.81 ± 5.81 D vs. -4.78 ± 5.27 D; p = 0.0222) compared with the BCM control group. The study group had higher 30-Hz cone flicker responses (28.60 ± 15.02 µv; n = 24), whereas the BCM group had none (0.66 ± 2.12 µv; n = 21; p < 0.0001). The Lanthony 15-HUE desaturated test was variable for the exon 3 haplotype group, with a tendency toward the deutan-protan axis. The present study included genetic and clinical data from the largest cohort of patients with exon 3 haplotypes that were previously shown to cause missplicing of the OPN1LW and OPN1MW genes. Analysis of the clinical data revealed better best-corrected visual acuity, more severe myopia, and higher 30-Hz cone flicker responses in the patients with exon 3 haplotypes than in those with typical BCM. Copyright © 2022 Molecular Vision.

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