| H00974 | |
| H number | H00974 |
| 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 |
| Network | - |
| Gene | OPN1LW [HSA:5956] [KO:K04251] OPN1MW [HSA:2652] [KO:K04251] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B70 ICD-10: H35.5 MeSH: D003117 OMIM: 303700 |
| Reference | PMID:19927164 AUTHORS Simunovic MP TITLE Colour vision deficiency. JOURNAL Eye (Lond) 24:747-55 (2010) DOI:10.1038/eye.2009.251 PMID:19421413 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) PMID:2788922 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 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) |