Blue Cone Monochromacy (BCM)

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Disease Ontology 12 DOID:0050679 OMIM 56 303700 OMIM Phenotypic Series 56 PS120970 KEGG 36 H00974 MeSH 43 D003117 D058499 MESH via Orphanet 44 C536238 C538165

ICD10 via Orphanet 33 H53.5 UMLS via Orphanet 72 C0339537 C2931753 Orphanet 58 ORPHA16 MedGen 41 C0339537 CN069543 SNOMED-CT via HPO 68 13164000 246622003 246635007 24704003 274524001 35743001 397540003 409668002 421689001 5587004 563001 57190000 7973008 more UMLS 71 C0339537 C2931753 C3887937

UniProtKB/Swiss-Prot : ⁷³ Blue cone monochromacy: 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.
Cone dystrophy 5: An 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.

MalaCards based summary : Blue Cone Monochromacy, also known as blue cone monochromatism, is related to color vision deficiency and congenital nystagmus, and has symptoms including photophobia An important gene associated with Blue Cone Monochromacy is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and testes, and related phenotypes are blue cone monochromacy and nystagmus

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵² Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene (s) and is inherited in an X-linked manner. There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.

OMIM : ⁵⁶ 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). (303700)

KEGG : ³⁶ Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males.

Wikipedia : ⁷⁴ Monochromacy (from Greek mono, meaning "one" and chromo, meaning "color") is the ability of organisms or... more...

Clinical features from OMIM:

303700

Search Clinical Trials , NIH Clinical Center for Blue Cone Monochromacy

Search GEO for disease gene expression data for Blue Cone Monochromacy.