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blue cone monochromacy

Disease Summary
Associated Targets (3)
Tdark

2

Tbio

1


Explore Associated Targets
Mondo Description Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
Uniprot Description A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Disease Ontology Description An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
Mondo Term and Equivalent IDs
MONDO:0010563:  blue cone monochromacy
GARD:0000917: 
MESH:C536238: 
Orphanet:16: 
SCTID:24704003: 
UMLS:CN036572: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)