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Article

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Scientific reports - 31 Jul 2018

Katagiri Satoshi, Iwasa Maki, Hayashi Takaaki, Hosono Katsuhiro, Yamashita Takahiro, Kuniyoshi Kazuki, Ueno Shinji, Kondo Mineo, Ueyama Hisao, Ogita Hisakazu, Shichida Yoshinori, Inagaki Hidehito, Kurahashi Hiroki, Kondo Hiroyuki, Ohji Masahito, Hotta Yoshihiro, Nakano Tadashi

Abstract excerpt

Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM. In Case 1, only one gene was present. Abnormalities were found in the promoter, which had a mixed unique profile of first...

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Identifiers

PMID: 30065301
DOI: 10.1038/s41598-018-29891-9
PMCID: PMC6068165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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