Molecular biological study on point mutation of rhodopsin gene in retinitis pigmentosa

视网膜色素变性视紫红质基因点突变的分子生物学研究

• 批准号: 03670827
• 负责人: IIJIMA Hiroyuki
• 金额: $ 1.15万
• 依托单位: Yamanashi Medical College
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1991
• 资助国家: 日本
• 起止时间: 1991 至 1992
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-03670827/
• 关键词: Retinitis pigmentosa; Rod; Cone; Electroretinogram; Implicit time; Fundus flavimaculatus; Cone dystrophy; Cataract; ロドプシン; 点突然変異; 常染色体優性遺伝; ERG; 視野; PCR; SSCP

1) Clinical study with static perimetry and photopic electroretinogram (ERG)on sector retinitis pigmentosa disclosed two types of the disease; one with elevated thresholds in the lower half of the visual field and delayed implicit time,and the other with normal thresholds in the lower field and normal implicit time.2) ERGs in cone dystrophy showed low value of log(bp/bs) that represents the log of photopic ERG amplitude divided by scotopic ERG amplitude. The results were of importance for the differential diagnosis between retinitis pigmentosa and cone dystrophy.3) Fundus flavimaculatus with reduced cone ERG were studied clinically. The results showed electrophysiological heterogeneity in fundus flavimaculatus.4) Implicit Time of the photopic ERG has some clinical implications. The author found the better recordability of the photopic ERG with the brighter white stimulus flash. Most RP cases showed prolonged implicit time, while those with normal or mildly delayed implicit time were considered to have good prognosis.5) Clinical study on the cataractous patients with RP revealed that the interferometry can predict postoperative acuity in elderly cataractous patients with RP.

1)对色素性视网膜性视网膜炎进行静态视野检查和明视视网膜电图(ERG)的临床研究，发现该病有两种类型：一种是视野下半部阈值升高，潜伏期延迟，另一种是低视野阈值正常，潜伏期正常。2)视锥细胞营养不良的ERG表现为低对数(BP/bs)，即明视ERG波幅除以暗视ERG波幅。研究结果对视网膜色素变性和视锥细胞营养不良的鉴别诊断具有重要意义。3)对黄斑眼底视锥细胞视网膜电流图的改变进行了临床研究。结果表明黄斑黄斑变性患者眼底电生理的异质性。4)明视ERG的隐含时间具有一定的临床意义。作者发现，白光刺激闪光灯越亮，明感光ERG的可记录性越好。大多数RP患者的隐含时间延长，而隐含时间正常或轻度延迟的患者预后较好。5)对老年性白内障RP患者的临床研究表明，干涉仪可以预测老年性白内障RP患者的术后视力。

项目成果

Iijima H et al: "Fundus flavimaculatus with severely reduced cone electroretinogram" Jpn J Ophthalmol. 36. 249-256 (1992)

Iijima H 等人：“黄斑眼底，锥体视网膜电图严重减少”，Jpn J Ophamol。

Iijima H et al: "Static perimetry and temporal aspects of the photopic electroretinogram in sector retinitis pigmentosa" Acta Soc Ophthalmol Jpn. 96. 243-250 (1992)

Iijima H 等人：“色素性视网膜炎中明视视网膜电图的静态视野测量和时间方面”Acta Soc Ophasemol Jpn。

飯島裕幸: "区画型網膜色素変性症の静的視野閾値と錐体系ERG頂点潜時" 日本眼科学会雑誌. 96. 243-250 (1992)

Hiroyuki Iijima：“室间隔性色素性视网膜炎的静态视野阈值和锥体系统 ERG 尖峰潜伏期”日本眼科学会杂志 96. 243-250 (1992)。

Iijima H et al: "Photopic electroretinogram implicit time in retinitis pigmentosa" Jap J of Ophthalmol. 37.

Iijima H 等人：“色素性视网膜炎中的明视视网膜电图隐式时间”Jap J of Ophthalmol。

Iijima,H.: "Fundus flavimaculatus with severely reduced cone electroretinogram" Japanese Journal of Ophthalmology. 36. 249-256 (1992)

Iijima,H.：“黄斑眼底视网膜电图严重减少”，日本眼科杂志。