Molecular genetic and pathophysiological study of new hereditary retinal diseases.
新遗传性视网膜疾病的分子遗传学和病理生理学研究。
基本信息
- 批准号:13307048
- 负责人:
- 金额:$ 30.2万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for Scientific Research (A)
- 财政年份:2001
- 资助国家:日本
- 起止时间:2001 至 2002
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
"Occult macular dystrophy" is a new clinical entity detected by us and the clinical characteristics of 36 patients was studied. The autosomal dominant inheritance was suggested in 8 families. The visual acuity ranged from 0.1 to 1.0 and many patients showed red-green color vision deficiency. The fundi and fluorescein angiography were normal, however the detail analysis of OCT indicated that the thickness of the macula is significantly thinner than normal in many patients.We demonstrated that the congenital stationary night blindness with negative ERG is classified into two subtypes, complete and incomplete type, which are different clinical entities. Our hypothesis was proven true by molecular genetics. We studied 90 patients in terms of the molecular genetics and several visual functions. About half of the patients with complete type, the NYX gene mutation was shown, and all incomplete type patients showed CACNA1F gene mutation. The ERG findings indicated that the complete type has the selective dysfunction of the ON bipolar cell, while incomplete type has the incomplete dysfunction of both ON and OFF bipolar cells.Furthermore, the focal macular ERG recording, which we have developed suggested that the function of macula is different from other part of the retina in complete type. This result may be reasonable to explain that many patients show normal color vision and near normal contrast sensitivity in spite of the complete defect of ON visual pathway.
“隐匿性黄斑营养不良”是我们发现的一个新的临床实体,并研究了36例患者的临床特征。 8个家系均提示常染色体显性遗传。视力在0.1至1.0之间,许多患者表现出红绿色视觉缺陷。眼底和荧光素血管造影正常,但OCT详细分析表明许多患者黄斑厚度明显薄于正常。我们证明ERG阴性的先天性静止性夜盲症分为完全性和不完全性两种亚型类型,这是不同的临床实体。我们的假设被分子遗传学证明是正确的。我们对 90 名患者进行了分子遗传学和多种视觉功能方面的研究。大约一半的完全型患者显示NYX基因突变,所有不完全型患者显示CACNA1F基因突变。 ERG结果表明,完全型具有ON双极细胞的选择性功能障碍,而不完全型具有ON和OFF双极细胞的不完全功能障碍。此外,我们开发的局灶性黄斑ERG记录表明,黄斑与视网膜其他部分的完整类型不同。这一结果可以合理地解释,尽管 ON 视觉通路完全缺陷,但许多患者仍表现出正常的色觉和接近正常的对比敏感度。
项目成果
期刊论文数量(29)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Nakamura M, Ito S, Terasaki H, Miyake, Y: "Japanese X-linked juvenile retinoschisis : conflict of phenotype and genotype with novel mutations in the XLRS1 gene"Arch Ophthalmol. 119. 1553-1554 (2001)
Nakamura M、Ito S、Terasaki H、Miyake、Y:“日本 X 连锁青少年视网膜劈裂症:表型和基因型与 XLRS1 基因新突变的冲突”Arch Ophasemol。
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- 影响因子:0
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- 通讯作者:
Nakamura M, Ito S, Terasaki H, Miyake Y.: "Japanese X-linked juvenile retinoschisis : Conflict of phenotype : genotype with novel mutations in the XLRS1 gene"Arch Ophthalmol.. 119. 1553-1554 (2001)
Nakamura M、Ito S、Terasaki H、Miyake Y.:“日本 X 连锁青少年视网膜劈裂症:表型冲突:XLRS1 基因中具有新突变的基因型”Arch Ophthalmol.. 119. 1553-1554 (2001)
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Horio N, Kachi S, Hori K, Terasaki H, Miyake Y, et al.: "Progressive change of optical coherence tomography scans in retinal degeneration slow (rds) mice"Arch Ophthalmol.. 119. 1329-1332 (2001)
Horio N、Kachi S、Hori K、Terasaki H、Miyake Y 等人:“视网膜变性缓慢 (rds) 小鼠中光学相干断层扫描的渐进变化”Arch Ophthalmol.. 119. 1329-1332 (2001)
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Hotta Y, Nakamura M, Okamoto Y, Terasaki H, Miyake Y, et al.: "Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks"Br J Ophthalmol.. 85. 238-239 (2001)
Hotta Y、Nakamura M、Okamoto Y、Terasaki H、Miyake Y 等人:“XLRS1 基因的不同突变导致青少年视网膜劈裂伴视网膜白色斑点”Br J Ophthalmol.. 85. 238-239 (2001)
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Nakamura M, Ito S, Terasaki H, Miyake Y: "Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy"Am J Ophthalmol. 134. 463-465 (2002)
Nakamura M、Ito S、Terasaki H、Miyake Y:“与对称性视网膜萎缩相关的不完全先天性静止性夜盲症”Am J Ophamol。
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MIYAKE Yozo其他文献
MIYAKE Yozo的其他文献
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{{ truncateString('MIYAKE Yozo', 18)}}的其他基金
Layer-by-layer evaluation of function and morphology in macular diseases.
黄斑疾病功能和形态的逐层评估。
- 批准号:
11470363 - 财政年份:1999
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for Scientific Research (B).
Basic and clinical study of multifocal ERG
多焦ERG的基础与临床研究
- 批准号:
08457462 - 财政年份:1996
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Study of the mechanism of visual function in incomplete type of congenital stationary night blindness
不完全型先天性静止性夜盲症视功能机制研究
- 批准号:
06454496 - 财政年份:1994
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for General Scientific Research (B)
Study of diabetic maculopathy by focal lmacular ERG
局灶黄斑ERG研究糖尿病性黄斑病变
- 批准号:
04454440 - 财政年份:1992
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for General Scientific Research (B)
Study of automated perimetry
自动视野检查的研究
- 批准号:
02670784 - 财政年份:1990
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for General Scientific Research (C)
Objective visual functions in macular diseases
黄斑疾病的客观视觉功能
- 批准号:
62480362 - 财政年份:1987
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for General Scientific Research (B)
相似海外基金
Mechanisms of neural compensation in the retina and dysfunction in congenital stationary night blindness
先天性静止性夜盲症视网膜神经代偿机制及功能障碍
- 批准号:
10678730 - 财政年份:2023
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Establishment of dog model of congenital stationary night blindness
先天性静止性夜盲犬模型的建立
- 批准号:
26462683 - 财政年份:2014
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Identification of causative gene mutation and analysis of genotype-phenotype correlation in Japanese cone(-rod) dystrophy
日本视锥(杆)营养不良症致病基因突变鉴定及基因型-表型相关性分析
- 批准号:
14370556 - 财政年份:2002
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular genetic analysis of hereditary retinal diseases
遗传性视网膜疾病的分子遗传学分析
- 批准号:
12671703 - 财政年份:2000
- 资助金额:
$ 30.2万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
先天性静止性夜盲症基因的分离
- 批准号:
6151100 - 财政年份:1999
- 资助金额:
$ 30.2万 - 项目类别: