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蓝色视锥细胞单色视

Blue cone monochromatism.

作者信息

Weiss A H, Biersdorf W R

机构信息

University of South Florida Medical Center, College of Medicine, Department of Ophthalmology, Tampa 33612.

出版信息

J Pediatr Ophthalmol Strabismus. 1989 Sep-Oct;26(5):218-23. doi: 10.3928/0191-3913-19890901-04.

DOI:10.3928/0191-3913-19890901-04
PMID:2795409
Abstract

Blue cone monochromatism (BCM) is a subtype of achromatopsia in which the blue cone mechanism predominates. Each of the four patients in this study had BCM proven by their having peak spectral sensitivities in the blue region of the visible spectrum (near 440 nm). Clinically, the diagnosis was suspected because of x-linked inheritance, the presence of acuities better than 20/200 in two patients and myopia ranging from -1.75 to -15.00 diopters in three patients. Congenital nystagmus was the presenting sign in three of the four patients. Examination of the fundi was uniformly normal. The distinctive spectral properties of BCM were demonstrated by the American Optical H-R-R and the Panel D-15 tests. All affected patients correctly identified three of the four blue-yellow plates and a variable number of the red-green plates in the American Optical H-R-R test. The study patients consistently made errors oriented along the protan and deutan axes but they made none along the tritan axis. The authors conclude that the results of these two color discrimination tests are useful in diagnosing BCM.

摘要

蓝锥单色视(BCM)是全色盲的一种亚型,其中蓝锥细胞机制占主导地位。本研究中的四名患者均经证实患有BCM,其峰值光谱敏感度位于可见光谱的蓝色区域(接近440纳米)。临床上,由于X连锁遗传、两名患者视力优于20/200以及三名患者近视度数在-1.75至-15.00屈光度之间,故而怀疑患有此病。四名患者中有三名以先天性眼球震颤为首发症状。眼底检查均正常。美国光学H-R-R和Panel D-15测试证实了BCM独特的光谱特性。在美式光学H-R-R测试中,所有受影响患者均能正确识别四张蓝黄视标板中的三张以及数量不等的红绿视标板。研究中的患者在沿红色弱和绿色弱轴方向始终出现错误,但在沿蓝色弱轴方向未出现错误。作者得出结论,这两种颜色辨别测试的结果有助于诊断BCM。

相似文献

1
Blue cone monochromatism.蓝色视锥细胞单色视
J Pediatr Ophthalmol Strabismus. 1989 Sep-Oct;26(5):218-23. doi: 10.3928/0191-3913-19890901-04.
2
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.蓝锥单基因色盲:一项表型和基因型评估,有证据表明老年个体的视锥细胞功能逐渐丧失。
Eye (Lond). 2005 Jan;19(1):2-10. doi: 10.1038/sj.eye.6701391.
3
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.蓝锥单色素症:红/绿视蛋白基因簇突变患者的临床发现
Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35. doi: 10.1007/s00417-004-0921-z.
4
Color plates to help identify patients with blue cone monochromatism.
Am J Ophthalmol. 1983 Jun;95(6):741-7. doi: 10.1016/0002-9394(83)90058-2.
5
Japanese family with blue cone monochromatism.患有蓝色视锥细胞单色症的日裔家庭。
Jpn J Ophthalmol. 1992;36(2):132-41.
6
[X-linked blue cone monochromatism. A familial case report].[X连锁蓝锥单色素视症。1例家族性病例报告]
Arch Soc Esp Oftalmol. 2005 Jan;80(1):35-40. doi: 10.4321/s0365-66912005000100007.
7
Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.手持式视网膜电图系统在诊断儿童蓝锥单色视症中的应用价值。
Jpn J Ophthalmol. 2021 Jan;65(1):23-29. doi: 10.1007/s10384-020-00782-9. Epub 2020 Nov 2.
8
[The properties of visual functions and familial analysis in blue cone monochromatism].[蓝锥单色视的视觉功能特性及家系分析]
Nippon Ganka Gakkai Zasshi. 1992 Apr;96(4):523-30.
9
Eye movement abnormalities in carriers of blue-cone monochromatism.蓝锥单色视携带者的眼球运动异常。
Invest Ophthalmol Vis Sci. 1994 Aug;35(9):3556-60.
10
Association of acquired color vision defects in blue cone monochromatism.蓝锥单色视中获得性色觉缺陷的关联
Jpn J Ophthalmol. 1995;39(1):55-9.

引用本文的文献

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Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.评估蓝色视锥单色症的视网膜结构和视觉功能,为 L-opsin 基因治疗开发临床终点。
Int J Mol Sci. 2024 Oct 2;25(19):10639. doi: 10.3390/ijms251910639.
2
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.蓝锥单色症的色觉:临床试验的结果评估。
Transl Vis Sci Technol. 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25.
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Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in and Genes.
蓝色锥细胞单色症伴中心凹发育不良由 和 基因变异的共同作用引起。
Int J Mol Sci. 2021 Aug 10;22(16):8617. doi: 10.3390/ijms22168617.
4
Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.手持式视网膜电图系统在诊断儿童蓝锥单色视症中的应用价值。
Jpn J Ophthalmol. 2021 Jan;65(1):23-29. doi: 10.1007/s10384-020-00782-9. Epub 2020 Nov 2.
5
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.男性生殖系中从视蛋白1中波(OPN1MW)到视蛋白1长波(OPN1LW)的新生染色体内基因转换导致蓝锥单色性。
Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253.
6
Exposure to sunlight reduces the risk of myopia in rhesus monkeys.暴露在阳光下可降低恒河猴患近视的风险。
PLoS One. 2015 Jun 1;10(6):e0127863. doi: 10.1371/journal.pone.0127863. eCollection 2015.
7
[Achromatopsia].[全色盲]
Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. doi: 10.1007/s00347-010-2178-8.
8
Blue cone monochromacy: causative mutations and associated phenotypes.蓝色视锥细胞单色性:致病突变及相关表型
Mol Vis. 2009;15:876-84. Epub 2009 May 1.
9
Rod and rod-driven function in achromatopsia and blue cone monochromatism.色盲和蓝锥单色视中的视杆及视杆驱动功能。
Invest Ophthalmol Vis Sci. 2009 Feb;50(2):950-8. doi: 10.1167/iovs.08-2544. Epub 2008 Sep 29.
10
The cone dysfunction syndromes.视锥细胞功能障碍综合征
Br J Ophthalmol. 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102.