| H00974 | |
| H番号 | H00974 |
| 名称 | 青錐体全色覚異常 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | OPN1LW [HSA:5956] [KO:K04251] OPN1MW [HSA:2652] [KO:K04251] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9B70 ICD-10: H35.5 MeSH: D003117 OMIM: 303700 |
| 文献 | PMID:19927164 著者 Simunovic MP タイトル Colour vision deficiency. 雑誌 Eye (Lond) 24:747-55 (2010) DOI:10.1038/eye.2009.251 PMID:19421413 著者 Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ タイトル Blue cone monochromacy: causative mutations and associated phenotypes. 雑誌 Mol Vis 15:876-84 (2009) PMID:2788922 著者 Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. タイトル Molecular genetics of human blue cone monochromacy. 雑誌 Science 245:831-8 (1989) DOI:10.1126/science.2788922 PMID:8213841 (OPN1LW OPN1MW) 著者 Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al. タイトル Genetic heterogeneity among blue-cone monochromats. 雑誌 Am J Hum Genet 53:987-1000 (1993) |