Defective visual phototransduction due to OPN1LW loss of function

Stable Identifier
R-HSA-9918450
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective visual phototransduction due to OPN1LW loss of function
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Blue cone monochromatism (BCM) is a rare X-linked congenital cone dysfunction characterized by the absence of functional long wavelength-sensitive (red) and medium wavelength-sensitive (green) cones in the retina. Colour discrimination is severely impaired from birth, and vision is derived from the preserved short wavelength-sensitive (blue) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, photophobia and patients often have myopia. BCM affects approximately 1 in 100,000 individuals and can be caused by loss-of-function mutations in the OPN1LW gene (see review Gardner et al. 2009).

Defects in OPN1LW also cause partial colorblindness, protan series (CBP, protanopia; MIM:303900) due to non-functional red cones (Ueyama et al. 2002).
Literature References
PubMed ID Title Journal Year
12051694 Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies

Ueyama, H, Kuwayama, S, Imai, H, Tanabe, S, Oda, S, Nishida, Y, Wada, A, Shichida, Y, Yamade, S

Biochem. Biophys. Res. Commun. 2002
20579627 X-linked cone dystrophy caused by mutation of the red and green cone opsins

Gardner, JC, Webb, TR, Kanuga, N, Robson, AG, Holder, GE, Stockman, A, Ripamonti, C, Ebenezer, ND, Ogun, O, Devery, S, Wright, GA, Maher, ER, Cheetham, ME, Moore, AT, Michaelides, M, Hardcastle, AJ

Am. J. Hum. Genet. 2010
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
color blindness DOID:13399 BLINDNESS COLOR, Colour vision deficiency, Colour blindness
Cross References
Mondo
Authored
Jassal, B  (2012-09-12)
Reviewed
Matthews, L  (2024-08-15)
Created
Orlic-Milacic, M  (2024-08-15)
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