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Defective visual phototransduction due to OPN1LW loss of function
Summary
- Organism
- Homo sapiens (human)
- Reactome
- R-HSA-9918450
- PubChem
- R-HSA-9918450
- Description
-
- 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).
- 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).
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
| UniProt ID | Protein Name | Gene Symbol | Pathway Viewer |
|---|---|---|---|
| P04000 | Long-wave-sensitive opsin 1 |
|
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