blue cone monochromacyResearch
A novel variant in the OPN1LW gene, p.Ile109Asn, has been identified as a cause of blue cone monochromacy with a parafoveal hyperautofluorescent ring. This discovery enhances understanding of the genetic underpinnings of this rare visual disorder.
blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel opn1lw p ile109asn variant
Original title: “Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.”