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GTR Home > Conditions/Phenotypes > Cone monochromatism

Cone monochromatism

Synonyms
Blue cone monochromacy; Blue-Mono-Cone-Monochromatic Type Colorblindness; Color blindness blue mono cone monochromatic type; Incomplete achromatopsia; X-chromosome-linked achromatopsia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CBBM, CBP, COD5, RCP, ROP, OPN1LW
    Summary: opsin 1, long wave sensitive

  • Also known as: CBBM, CBD, COD5, GCP, GOP, OPN1MW1, OPN1MW
    Summary: opsin 1, medium wave sensitive

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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