KEGG DISEASE: Blue cone monochromacy

KEGG

DISEASE: Blue cone monochromacy

Entry

H00974                      Disease

Name

Blue cone monochromacy

Description

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.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00974  Blue cone monochromacy

Gene

OPN1LW [HSA:5956] [KO:K04251]
OPN1MW [HSA:2652] [KO:K04251]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Simunovic MP

Title

Colour vision deficiency.

Journal

Eye (Lond) 24:747-55 (2010)
DOI:10.1038/eye.2009.251

Reference

Authors

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ

Title

Blue cone monochromacy: causative mutations and associated phenotypes.

Journal

Mol Vis 15:876-84 (2009)

Reference

Authors

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.

Title

Molecular genetics of human blue cone monochromacy.

Journal

Science 245:831-8 (1989)
DOI:10.1126/science.2788922

Reference

PMID:8213841 (OPN1LW OPN1MW)

Authors

Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al.

Title

Genetic heterogeneity among blue-cone monochromats.

Journal

Am J Hum Genet 53:987-1000 (1993)

LinkDB

» Japanese version

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